ALS TDI Reports Quarterly Progress

On July 16, 2009, the MDA-supported ALS Therapy Development Institute (ALS TDI, www.als.net) gave its quarterly research update in a Webcast that’s now archived on the Institute’s site and accessible to all who register (free).

Topics in the Webcast included the promising compound ALSTDI-00846; gene therapy; stem cells; barriers to drug development; and whether motor neurons are culprits or innocent bystanders in the ALS disease process.

MDA and the ALS TDI, in Cambridge, Mass., have collaborated to support ALS research since 2007.

ALSTDI-00846

The compound ALSTDI-00846 modifies a specific immune-system response, and has excited ALS TDI researchers because of its effects on ALS mice, said Steve Perrin, CEO and chief scientific officer at ALS TDI.

In studies of more than 200 mice, the compound increased survival an average of 12 days, said Perrin. Although that may not sound like much, Perrin said this is a “much bigger effect [in mice] than Rilutek,” the only drug approved by the U.S. Food and Drug Administration (FDA) for the treatment of ALS.

In addition, body weight in the mice increased, and the loss of neurological function slowed.

More about ALSTDI-00846 can be found on the ALS TDI Forum (www.als.net/forum).

Gene therapy

Gene therapy, Perrin said, is “coming back into the limelight” after being derailed some 10 years ago by the death of a patient with a metabolic disease who was participating in a gene therapy trial.

ALS TDI is working with the biotech company Asklepios BioPharma of Chapel Hill, N.C., to develop gene therapies for ALS. (Asklepios has received MDA support to develop gene therapy for Duchenne muscular dystrophy.)

Stem cells

John McCarty, director of therapeutic investigations at ALS TDI, reported on the International Society for Stem Cell Research conference he attended this summer in Barcelona, Spain.

McCarty said stem cells have three basic applications in ALS: 1) as research tools; 2) as cell replacement therapies; and 3) as a vehicle for delivering therapeutic substances.

Other targets

McCarty emphasized that ALS is “not just about motor neurons,” the cells in the brain and spinal cord that control muscle action and that are lost in ALS. Other potentially important cell types that could be targeted to treat the disease may be glial cells (non-nerve cells in the nervous system), muscle fibers and cells of the immune system, McCarty said.

Perrin echoed these sentiments, noting that, “It can be difficult to get a drug into the central nervous system, so these other mechanisms open up therapeutic, drugable pathways.” (Muscle fibers are outside the central nervous system, and immune-system cells have multiple locations.)

He went so far as to say that motor neurons may in fact be innocent bystanders that become victims in the ALS disease process.

Barriers to drug development

“Traditional pharmaceutical industry assumptions about ALS” are barriers to drug development in the disease and need to be challenged, said Perrin.

The industry has been averse to developing treatments for ALS, he said, because it believes 1) there are not a lot of patients, so the market is small; 2) the cause of ALS is unknown; and 3) there is no biological marker (biomarker) that can be easily measured to follow the course of the disease or the response to treatment.

Perrin stressed the importance of educating commercial firms that the market for ALS is potentially as large as it is for multiple sclerosis (MS) and is made smaller because ALS is such an aggressive disease. “If we could get a molecule that impacts the disease in ALS,” he said, “the number of [living] patients is going to climb, as it did for MS.”

He said research at ALS TDI focuses on understanding the biological pathways involved in ALS and on defining biomarkers to follow the course of the disease. Progress, he emphasized, is definitely being made.

Next Webcast in October

The next quarterly ALS TDI research Webcast will take place Oct. 5, 2009, during the Institute’s Leadership Summit. To register for the quarterly Webcast, go to http://register.webcastgroup.com/event/?wid=0820716094570.

Monthly Webinars are also offered by the ALS TDI. See www.als.net/webinar.

In Other Research News ...

Iplex on hold

The Richmond, Va., biopharmaceutical company Insmed (www.insmed.com) announced July 27, 2009, that it will not supply its experimental drug Iplex to any new patients with ALS for the foreseeable future, and that it intends to analyze the available data on Iplex for ALS and for myotonic dystrophy before deciding whether to proceed with development of the drug for either disease.

Iplex is a combination of the protein insulin-like growth factor 1 (IGF1) and IGF binding protein 3. Laboratory studies have suggested it may preserve muscle or nerve tissue under adverse circumstances, including degenerative disease.

There is no evidence that the drug is effective against ALS, but it has been available for use by ALS patients in other countries, and data so far suggest the compound is reasonably safe. According to Insmed, as of July 27, 2009, there were about 70 patients with ALS receiving Iplex, 12 in the United States and the remainder “around the rest of the world,” mostly in Italy.

Meta-analysis finds no ALS-PON gene connection

A new report combining data from 11 studies has failed to find a connection between variants in genes for paraoxonase (PON) enzymes and an increased risk of developing ALS.

The report, published July 7, 2009, in Neurology, included Orla Hardiman at Beaumont Hospital in Dublin (Ireland), whose MDA-supported study of PON gene variations in Ireland was published in 2007.

PON genes are the instructions for PON enzymes, which play a role in detoxifying certain poisons, such as organophosphate-based pesticides.

The jury is still out on whether variations in PON genes, coupled with toxic exposures, such as some military personnel may have experienced during the Gulf War, raise the risk of ALS. (iStock photo)

PON gene variants, in conjunction with toxic exposures (such as may have been experienced by soldiers in the first Gulf War), have been suspected of increasing ALS susceptibility.

The new “meta-analysis” (an overall analysis of several studies) rules out a common PON genetic mechanism that raises ALS risk across worldwide populations.

However, the analysis does not rule out the possibility that PON gene variations may raise ALS risk in people living in specific areas or in those who have experienced specific environmental exposures. (For more on this subject, see “How Reliable Are Genetic Association Studies?”)

Zenvia shows promise in treating ALS-related emotional symptoms

The pharamaceutical company Avanir has announced positive results for its phase 3 trial to treat unwanted episodes of laughing and crying in patients with ALS and multiple sclerosis using its experimental drug Zenvia.

This emotional phenomenon, known as “involuntary emotional expression disorder” (IEED) or “pseudobulbar affect” (PBA), is common in ALS and is believed to be caused by damage to an area of the brain the controls emotional expression. Contrary to appearances, people usually don’t feel emotional during a laughing or crying episode. (For an explanation of PBA and other ways to deal with it, see “PBA Symptoms No Laughing Matter,” MDA ALS Newsmagazine, March 2006.)

Zenvia (formerly called Neurodex) is a combination of two drugs, dextromethorphan and quinidine. Two dosage formulations were used in the trial: 30 milligrams of dextromethorphan combined with 10 milligrams of quinidine and 20 milligrams of dextromethorphan combined with 10 milligrams of quinidine. Avanir reports both dosages significantly reduced episodes of PBA compared to a placebo. The drug was generally safe and well tolerated.

The company intends to announce complete results from the phase 3 study this fall and to follow guidance from the U.S. Food and Drug Administration (FDA) to gain market approval for Zenvia to treat PBA.

For a thorough discussion of Zenvia in an Aug. 11, 2009, conference call, see “Webcasts” at www.avanir.com.

Study emphasizes need for caution with stem cells

There’s been a great deal of progress in the ability to induce adult cells to return to a stemlike state and then mature into specific cell types, including nerve cells. A goal of such research is therapeutic stem cell transplantation using immunologically compatible cells, taken from patients and then reprogrammed. However, new studies show caution is warranted.

Hideyuki Okano at Keio University in Tokyo and Sinya Yamanaka at Kyoto (Japan) University coordinated one study, publishing results online in Nature Biotechnology July 9, 2009.

Out of 34 mice that received neurologic stem cells derived from mouse embryonic stem cells, only three (9 percent) developed tumors. However, the story was different when the neurologic stem cells were derived from adult mouse cells that were then reprogrammed.

A new study shows mice receiving stem cell transplants from cells that were originally adult mouse cells were more likely to develop tumors than those receiving transplants derived from mouse embryonic stem cells.

For instance, of 55 mice receiving induced stem cells derived from adult mouse tail cells, 46 (84 percent) developed tumors. And out of 36 mice receiving neurologic stem cells derived from mouse liver cells, 10 (28 percent) showed tumors.

The scientists believe tumor formation can be influenced by the tissue of origin for the induced stem cells and by the methods used for reprogramming the cells.

They concluded that “all of the variables affecting safety must be rigorously evaluated before therapies based on induced pluripotent stem cells advance to the clinic.” (For a discussion of current stem cell treatments being promoted for ALS, see "Stem Cells Abroad.")

How Reliable are Genetic Association Studies?

These studies are powerful — and sometimes misleading

by Margaret Wahl

Human beings have diverse genetic backgrounds and diverse environmental exposures, compared to laboratory mice. It’s much harder to determine the effect of any specific factor on human disease than it is to determine its effect on rodent disease in a controlled laboratory environment.

It sounds like a good idea, or at least a simple idea:

Take a large group of people with a particular disease and look at their DNA; then take a similar group of people without the disease and look at their DNA. If there are differences in the DNA, those might be genetic risk factors for developing the disease, or might provide insights into the biochemical pathways of disease development, and ultimately could even help scientists in their quest for therapies.

In fact, dozens of such genetic association studies, in ALS and other diseases, have been conducted in the last several years, aided by tremendous advances in technology. It seems every day we’re hearing about another disease, ALS included, in which a new genetic factor has been identified.

The new genetic technologies have been rightly praised as powerful. And for diseases like ALS, for which causation remains largely a mystery (except in a small percentage of inherited cases), one can’t afford to leave any stones unturned.

But at the same time, pitfalls of genetic association studies have to be recognized, particularly in “genome-wide” or “whole-genome” association studies, in which all genes are analyzed at once.

Widening the lens

Until recently, most genetic association studies started with a biological hypothesis. For instance, if the distance between nerve and muscle fibers is abnormally large in a particular disease, investigators might hypothesize that there’s a problem with the proteins that hold things together at the junction of these fibers. They then would take a look at the genes for these proteins to see if they’re different in people affected by the disease.

This type of “narrow-lens” study still is done today. For example, a recent meta-analysis of 11 studies of variations in the genes for paraoxonase (PON) enzymes in ALS) included six such narrow-lens studies that looked specifically at PON genes. The biological hypothesis underlying the search for PON gene differences was based on the known role of PON enzymes in detoxifying pesticides and possibly other environmental poisons. (For more on this analysis, see “Meta-analysis finds no ALS-PON gene connection.”)

The other five studies in the PON gene meta-analysis were whole-genome association studies — scans of the entire genome (all genes) in search of any differences at all, without the guidance (or prejudice) of a biological hypothesis. This kind of “wide-lens” study wouldn’t have been possible without the technical developments of the last five years or so.

Pitfalls and caveats

Although all genetic association studies have the possibility to lead us in productive directions in ALS research, there are pitfalls to be aware of, particularly when using a very wide lens.

1. ALS probably isn’t one disease.

If research has shown us anything over the last several decades, it's that there are almost certainly many ways to develop degeneration of the motor neurons, the cells in the brain and spinal cord that control muscles and mysteriously die off in ALS.

If, in a study of 400 people or even 4,000 people with ALS, there are actually five or 10 subtypes of the disease, each of which has different genetic associations, then chances are extremely small that any particular genetic association will stand out as statistically significant. True associations can be missed this way.

2. Human populations are genetically diverse.

In a population of laboratory mice, investigators ideally keep all variables constant, except the ones in which they’re interested. Mice in the experimental group and mice in the “control” group to which they’re being compared will have as close to the same genetic background as possible. In fact, mice even can be cloned to achieve this.

But humans, even from the same ethnic group or family, have diverse genetic backgrounds. And when you start talking about humans from varying ethnic groups around the globe, their genetic backgrounds can diverge significantly.

That factor matters in a genetic association study, because a variant form of a gene (for instance, a PON gene) in one genetic background may have one effect, while the same variant placed against a different genetic background may have another.

The significance of a variant that may have a significant impact on disease development in a small, genetically similar ethnic group may be lost when a study combines people of widely divergent ethnic backgrounds.

3. Human exposures are widely diverse.

It’s a principle of good laboratory practice that experimental animals are kept in an environment that’s as controlled as possible.

Laboratory mice can be kept in a constant temperature range, protected from infection and injury and fed the same diet. If the animals were in the wild, they’d be exposed to a variety of infectious agents, food types and amounts, temperature ranges and injuries, any of which could affect the course of a disease or the chance of developing it.

Humans, of course, don’t live in controlled environments, usually not even for the course of a clinical trial, let alone a lifetime.

A genetic variant, such as a PON gene change, that only matters in the context of certain environmental exposures, could well be overlooked in a study in which a large percentage of the population didn’t have those exposures.

4. The amount of data generated, particularly with whole-genome association studies, can be enormous and unwieldy.

Today’s genetic association studies are often conducted using computer chips that can analyze and compare hundreds of thousands of nucleotides (the building blocks of DNA) at a time.

How is a whole-genome association study like a food colander? Like a colander, these studies strain out data that aren’t significant, allowing passage of only the most significant differences between the disease-affected and unaffected samples. But experts aren’t certain how small the holes (how stringent the criteria) should be.

Although the first three points above focused on the possibility of overlooking a genetic variant that might actually be relevant (a type of error called a “false negative”), this fourth point addresses the possibility of finding an influence that isn’t really relevant (a “false positive”).

The possibility is high that at least one of some half-million DNA nucleotide comparisons made in a whole-genome association study could be judged statistically significant by the usual mathematical criteria for such judgments.

But some of the findings from such an analysis would be false positives that actually have no influence on the development of ALS but which, by chance, turned out to be different in the affected versus the unaffected populations.

In order to avoid false positives, statisticians working on whole-genome association studies use very stringent criteria to establish significance.

Those criteria perform the same function that a colander performs in food preparation, straining out unwanted elements. If the usual data “colander” has holes that allow the passage of peas but not potatoes, statisticians on whole-genome analysis studies are using colanders with holes so small that only the smallest peppercorns get through.

The problem is, no one knows exactly how stringent the statistical criteria for such studies should be. If they’re not stringent enough, a lot of false positive “peas” fall through the holes. If they’re too stringent, even significant peppercorns might get stuck and not be counted.

The bottom line

The bottom line about gene association studies, for those avidly following the progress of ALS research: Positive findings from gene association studies should be taken as leads to be followed, not as immediate therapeutic targets. And negative findings don’t always mean there’s no association between a genetic variant and ALS.

Why you probably should resist the lure of cures in faraway lands

by Margaret Wahl

Stem cells are a legitimate and exciting area of ALS research, and MDA is actively exploring the potential of these cells.

Stem cells that are too undifferentiated (immature) can be unpredicatable and dangerous, while those that are too differentiated (mature) are no longer able to engraft. Bottom line for the medical consumer: Buyer beware.

As of fall 2009, there are no stem cell-based treatments for ALS that are known to be either safe or effective. Unfortunately, that doesn’t stop foreign clinics from offering them.

You don’t have to do much searching these days to find advertisements for treatments using stem cells in India, China and Eastern Europe. Some even mention ALS specifically. It’s hard to resist the lure of a possible treatment or even cure for a disease as devastating as ALS, but there are some questions you should ask before packing your bags.

What kind of stem cells are they using?

The first question to ask is, what does the clinic mean by “stem cells”?

The answer may not be clear, and it may not be entirely truthful.

Even in the United States and Western Europe, the definition of stem cell is unclear. Mature, fully developed, specialized cells, such as those of the nervous system, muscles, liver, skin, etc., come from (“stem” from) less developed, less specialized cells. The term “stem cell” has been used to describe cells in various stages of development, from the most primitive and flexible cells to cells that are well along the path of becoming a specific kind of cell.

Human embryonic stem cells, taken from human embryos at a very early stage of development, are completely undifferentiated, meaning they have the potential to become any type of cell. That’s logical, because an embryo is formed from only two, merged cells — an egg from a woman and a sperm cell from a man — but every tissue subsequently develops from it.

Cells with the suffix “blast” are generally well advanced in the process of differentiating into specific types of cells. Myoblasts are well on their way toward becoming muscle, osteoblasts toward becoming bone, and lymphoblasts toward becoming blood cells known as lymphocytes.

Stemlike cells appear to exist along a continuum of development. For instance, the satellite cells that lie near muscle fibers are less differentiated than myoblasts but more differentiated than embryonic cells. Under certain circumstances, such as when muscle repairs are needed, these satellite cells divide into two cells, one remaining a satellite and the other differentiating into a myoblast.

Until recently, scientists thought the human body harbored no precursors to nerve cells (the main type of cell affected in ALS) after the initial development of the nervous system. Today, we know that’s not true. However, stemlike cells in the nervous system are extremely rare.

A cell that’s too far along in its journey toward becoming, say, a motor neuron (a nerve cell that controls muscle), probably won’t integrate into existing tissue. On the other hand, one that’s not mature enough may not develop into the desired tissue type.

For obvious reasons, a cell that’s on its way to becoming a type of tissue that’s not desired (bone, for instance, instead of nerve) could be a disaster.

Scientists don’t yet fully understand what signals are needed to coax cells to become what they want them to become, although a lot of progress has been made in this area.

What are the risks of stem cell treatments?

Treatment failure: The most likely outcome is simply that the treatment won’t help. If you don’t mind spending many thousands of dollars and doing a lot of traveling without any therapeutic benefit, that may be an acceptable risk. However, you might enjoy a trip to China more without the treatment, while avoiding more serious possible outcomes.

Tumor formation: Malignant tumors come from cells that are incompletely differentiated and lack the regulatory controls on growth that mature, fully differentiated cells possess. Tumor formation is a definite risk when transplanting undifferentiated cells into a patient.

Quality control varies in foreign clinics.

Immune system rejection: If the cells being transplanted come from another person or another species, there’s a strong possibility that the immune system of the recipient will reject them. At best, that means the cells won’t survive, and time, money and effort will have been wasted. At worst, a life-threatening immune response (such as what people allergic to bees experience when stung) could occur. In between are other types of harm, such as development of a chronic autoimmune response to the new cells and the tissues in which they reside.

Infection: It's highly possible for cells used for transplantation to carry viruses or other pathogens from their human or animal sources or to acquire them while they’re being grown in a laboratory where less-than-stringent procedures are in place. A recipient of contaminated cells faces the possibility of serious disease or even death. Also, any surgical procedure, in and of itself, always carries a small risk of infection.

Why are conditions like spinal cord injury and bone marrow cancers better candidates for stem cell treatments than ALS?

Lack of understanding of the disease: Unfortunately, the ALS disease process still is not well understood. It’s unknown whether transplanted cells would meet the same fate as the patient’s original nerve cells. Spinal cord injury and bone marrow cancers are well understood compared to ALS.

ALS affects a larger area: Despite the devastating effects of spinal cord injuries, the area of tissue damage in most injuries is extremely small compared to that in ALS. It’s easier to patch a small defect like a spinal cord injury than to repopulate multiple areas of the central nervous system with new cells, as would be needed to correct the ravages of ALS.

Intricate, extensive connections: In addition to its sheer size, the connections in the motor nervous system between nerve cells and other nerve cells, muscle fibers, and support cells (glia) are specific and complex. There’s some speculation that certain types of stem cells may “know” how to connect to other cells once they’re in the right place, but that’s far from clear.

These types of connections also are important in repair of spinal cord injury, but there aren’t anywhere near as many of them to make. In other conditions, such as bone marrow cancers, these connections aren’t relevant.

What is MDA doing about developing therapies for ALS using stem cells?

MDA’s Venture Philanthropy (MVP) program is consulting experts in this field, with the goal of developing clear guidelines for judging which stem cells proposed by various biotechnology companies have the best therapeutic potential for ALS.

The anticipated guidelines will include criteria for judging laboratory data on the efficacy and safety of the proposed therapy; criteria for assessing the proposed methods of manufacturing, expanding and purifying the stem cells; and the safety and feasibility of conducting clinical trials using the proposed cells.

by Amy Labbe

MDA-supported testing is under way to determine whether the commonly used drug pyrimethamine, marketed under the brand name Daraprim, may reduce levels of abnormal SOD1 protein molecules that poison nerve cells in a familial (inherited) form of ALS.

A variety of mutations in the gene for the SOD1 protein account for approximately 20 percent of familial ALS cases, or about 2 percent of all cases of ALS.

Pyrimethamine is approved by the U.S. Food and Drug Administration for treatment in humans of the parasitic infections malaria and toxoplasmosis.

Targeting SOD1

In a pilot trial, a number of patients with SOD1-related ALS showed reduced SOD1 blood levels while taking pyri-methamine, says Dale Lange, an MDA grantee and director of the MDA clinic at Joan and Sanford I. Weill Medical College of Cornell University in New York. Evidence from animal studies also shows that pyrimethamine reduces SOD1.

If SOD1 levels can be effectively decreased, “there should be a change in [disease] progression,” Lange says.

Researchers now are conducting a phase 1 study of pyrimethamine that incorporates what was learned in the pilot study. For example, the pilot study showed that people didn’t tolerate rapid increases in the pyrimethamine dose, so dose escalation will be slower in the new study.

The pilot study also revealed that SOD1 levels may go down more efficiently in spinal fluid than in blood. Researchers will be measuring SOD1 levels in spinal fluid as well as in blood.

Reduced SOD1 levels in spinal fluid are “a lot more meaningful than if we found the reduction occurring only in the blood,” Lange says. “That we can alter the biologic target in the spinal fluid means that the drug effect is very close to the target organs [the spinal cord and brain].”

Sean Scott, late president of the ALS Therapy Development Institute in Cambridge, Mass., initiated the high-throughput screening effort that identified pyrimethamine as an SOD1-lowering agent.

The investigators noted that in the pilot study, which had 17 participants, the drug’s effects varied depending on the patient’s specific SOD1 gene mutation. Lange hopes the current study will enroll more than double the number of participants so this variation can be observed and insights about ALS and its treatment can be gleaned.

Why pyrimethamine?

Lange says there were “no preclinical suspicions” that pointed to pyrimethamine as a potential therapeutic for ALS.

Rather, a 2002 high-throughput screening effort initiated by Sean Scott (the late president of the ALS Therapy Development Institute in Cambridge, Mass., who lost his life to ALS on Feb. 9, 2009) and molecular neuropharmacologist Dan Benjamin of New Jersey isolated the drug as one of a few out of hundreds of prospects that indicated a potential to lower SOD1 levels in cells in the laboratory.

The most potent candidates were then evaluated to determine which could reduce SOD1 levels in a dose-responsive fashion, with higher doses causing more SOD1 reduction. Says Lange, “That would suggest that the drug actually is responsible for the effect.”

Of the remaining candidates, Scott and Benjamin looked for drugs that already had been approved for other applications, permitting them to more easily and more quickly be tried in people.

“That whittled the original list down quite a bit,” Lange says. “There were a couple of promising candidates, but the one they chose was the most studied, with the best toxicity profile and least chance of causing side effects — pyrimethamine.”

Study specifics

For more information, contact Mona Shahbazi at (212) 774-2361, or shahbazim@hss.edu, or see the Clinical Trials section of MDA’s Web site (www.mda.org). Participants must have documentation of an SOD1 genetic mutation.

by Kathy Wechsler

Why go to them when they can come to you?

Online delivery services such as Peapod deliver groceries right to your home.

This is the question more Americans are asking as mobile grocery and restaurant delivery services, mechanics, hair stylists, groomers, veterinarians, physicians and dentists become increasingly popular.

Mobile services are available across the country. Some businesses provide their services nationally; others offer them regionally or locally.

For people with ALS who are looking for ways to save time and energy in their daily lives, these mobile services are worth their weight in gold.

Saving time and energy

Every three to four months, Carol Elliott of Mechanicsville, Va., has her hair washed, cut, styled and blow-dried in the comfort of her home’s wheelchair-accessible bathroom. Elliott received a diagnosis of ALS in 2001 and uses a power wheelchair.

“She comes, works on my hair and goes in 20 minutes,” Elliott, 53, says of her hair stylist, Margaret Burford, who owns Two of A Kind Hair Design. “If I went there, getting in and out of the van would add at least 20 minutes to the whole ordeal and tire me out in the process.”

Two of A Kind is a regular hair salon, but Burford will travel to the homes of longtime clients who have developed special needs. Burford charges $6 to $8 extra for home visits, and has been coming to Elliott’s house for two years.

Aussie Pet Mobile travels to Glen and Linda Houston’s house to groom their dog, Lily.

Mobile services also make it possible for ALS caregivers to get things accomplished without having to leave the house.

For two years, Glen and Linda Houston of St. Charles, Mo., have been using Aussie Pet Mobile to groom their 8-year-old Airedale, Lily, every six to eight weeks. Glen received a diagnosis of ALS in 2003 and uses a power wheelchair.

As Glen’s primary caregiver, Linda says that the convenience of the mobile pet grooming service coming to their St. Charles, Mo., home is worth the $90 bill.

“I can’t leave Glen, and this way I don’t have to,” says Linda. “When I used to take Lily into the groomer’s, it was an all-day deal.”

Empowerment

Mobile services offer more than just convenience — they allow individuals with ALS to take back some control.

Deborah Goessling, who received an ALS diagnosis in 2007 and uses a power wheelchair and scooter, has been using Peapod online grocery service for six months.

Every week, she marks her desired purchases on Peapod’s Web site, and the truck delivers them to her Wayland, Mass., home. The driver even carries the grocery bags inside and puts them on the kitchen counter. Goessling pays an additional $10 for a minimum order of $60. If the order is over $100, the delivery charge drops to $7.

Goessling, who always was in control in her kitchen, appreciates being able to maintain some of that control through grocery shopping.

“ALS makes you feel that everyone is doing everything for you, and you can do nothing — not even select the food you want to eat,” says Goessling, 56. “[Ordering groceries online] makes me feel somewhat independent because I am involved with the food choices in the home.”

It also means that her husband, Dan, who is her sole caregiver, doesn’t have to do the grocery shopping.

Taking care of the ordering and meal planning while Dan does the actual cooking allows the couple to share meal preparation responsibilities.

“I try to think of things I can do to reduce the workload on my husband,” she says. “Shopping for food is one thing I can do to help.”

Going mobile

To find mobile services in your community, try an Internet search; ask friends for referrals; check with the area agency on aging or Chamber of Commerce; or simply call up individual service providers (especially those where you’re a longtime customer) and ask if they’ll come to you.

As more and more services are hitting the road and making life easier for people with ALS, let’s not forget the old standby.

”Of course, ‘mobile food’ has always been our friend,” says Linda Houston. “I mean, pizza and Chinese food — who doesn’t order them, right?”

Show time! It’s MDA’s single largest fundraising event of the year, and also a prime opportunity to raise public awareness of the battle against ALS.

On Sept. 6 and 7, on 180 MDA “Love Network” stations around the country, individuals and families affected by ALS will be profiled to personalize their stories for viewers in their communities.

On the national broadcast starring Jerry Lewis, originating once again from the South Point Hotel, Casino & Spa in Las Vegas, MDA ALS Division Co-Chairs Augie and Lynne Nieto of Corona del Mar, Calif., will share their experience of living with ALS, and the fight for a cure.

Fitness industry pioneer/entrepreneur Augie Nieto, 51, learned he has ALS in March 2005. The Nietos were the driving force behind MDA’s Augie’s Quest, which supports ALS research through fundraising events across the country.

As always, the 21½-hour Telethon offers up an array of entertainment talent, beginning at 9 p.m. EDT Sunday, Sept. 6.

Celebrity co-hosts include television personality Jann Carl; Grammy-winner Billy Gilman; Nancy O’Dell (“Access Hollywood”); Alison Sweeney (“Days of Our Lives” and “The Biggest Loser”); and award-winning vocalist Ace Young. Popular TV host Tom Bergeron (“Dancing with the Stars” and “America’s Funniest Home Videos”) also will be featured.

Included in a long list of talent are Dolly Parton, Lee Greenwood, Tony Orlando, Terry Fator, Train, Penn and Teller,  Wynonna, Carlos Peña (Tampa Bay Rays), Brandon Barash (“General Hospital”), Five for Fighting and more.

Interspersed with entertainers’ performances, the Telethon will offer firsthand accounts from MDA-supported researchers about scientific investigations now under way to defeat ALS and other neuromuscular diseases.  The Telethon also provides an opportunity to recognize national sponsors who raise funds year-round for MDA research and service programs.

Viewers can check local listings or consult the MDA Web site to find their local Telethon broadcast station.  The Telethon also can be viewed online at http://www.mda.org/telethon/2009telethon/, thanks to streaming video provided by RealNetworks.

Nancy O’Dell, host of the entertainment-news show “Access Hollywood” and MDA’s National ALS Ambassador, has teamed with MDA to launch Betty’s Battle in honor of her mother, Betty Humphries, who died last year of ALS.

MDA’s Betty’s Battle will raise funds for the MDA ALS Division, supporting services and ALS research.

 “I’m so grateful to MDA for everything they did for my family and me during my mom’s illness,” O’Dell said.  “It’s my hope that through Betty’s battle, we will make possible a future without ALS and no other family will have to go through what mine did.”

On Aug. 23, O’Dell launched the fundraising campaign at the World Wrestling Entertainment “SummerSlam” pay-per-view event at the Staples Center in Los Angeles. Serving as a celebrity backstage interviewer, O’Dell raised ALS awareness through media interviews and a VIP “Axxess” party at h.wood club in Los Angeles.

 “We’re honored to include Nancy among the MDA family,” MDA President & CEO Gerald C. Weinberg said.

“MDA Betty’s Battle will give us the opportunity to reach out to Nancy’s fans and friends, and educate and empower them to make a difference in the fight against ALS.”

In addition to her television duties, O’Dell recently wrote a book about parenting, Full of Life: Mom-to-Mom Tips I Wish Someone Had Told Me When I Was Pregnant (Simon Spotlight Entertainment, 2009). This Labor Day weekend she serves a second year as a co-host on the Jerry Lewis MDA Telethon. She also is an MDA national vice president, a volunteer position.

For more information about MDA’s Betty’s Battle, visit www.bettysbattle.org, or call (800) 572-1717.

by Bill Norman

Home power often bites the dust when storms or other unpredictable influences play havoc with power lines and neighborhood transformer boxes. For people who use electrically powered respiratory equipment, this can be a life-threatening occurrence — unless there’s a reliable secondary source of power at the ready.

The Energizer Bunny is a trademark of Energizer.

Note: Vents and positive-air-pressure devices (like Philips Respironics’ BiPAP) contain delicate electronics that can be damaged by hooking them up to the wrong sort of power source. Always consult your vent manual or contact the manufacturer whenever creating a backup power system.

Internal & external power

Most vents contain an internal battery that keeps them operating if the electricity goes out. Internal battery life varies greatly, from about 25 minutes in VIASYS Healthcare’s TBird Legacy vent, to up to 11 hours with the Puritan Bennett 540’s lithium ion battery.

Some units have no internal batteries, like the Respironics BiPAP Harmony S/T, ResMed’s Sullivan Comfort and the AIROX SmartAir ST.

Most manufacturers advise against relying on a vent’s internal power source for any longer than necessary, and many offer supplemental external batteries that are larger and heavier than their internal counterparts. These batteries, generally providing 12 volts of direct current (DC), usually come with battery chargers and are kept plugged in so they’re ready for use on short notice.  These backups are useful not only during power outages but also when traveling.

Manufacturers generally offer a range of external battery/charger options. For example, Pulmonetics offers five battery/charger options for its LTV 800 vent, with battery life ranging from three to nine hours. Prices run from about $540 to $1,050. Another Pulmonetics option is its Universal Power Supply, which serves as a full-time source of 110 power for the vent, but also contains a battery that’s kept charged as the current flows through it. If the house power goes down, the UPS automatically switches to battery power so the vent doesn’t experience any down time.

Comparison shopping

Pulmonetics battery will run vents about three hours.

A 12-volt battery suitable for powering a vent often can be bought at a local battery shop or auto parts store for much less money than from vent manufacturers. (Batteries suitable for this purpose vary widely in size, weight, configuration, capability, portability and cost. Lighter-weight batteries usually cost more than their heftier counterparts with the same power capability.)

Manufacturers often advise against making such buys, guaranteeing only their own batteries and chargers, and sometimes indicating that other batteries may be harmful to the vent.

Nonetheless, many budget-conscious vent owners do buy and use their own back-up 12-volt DC batteries, chargers and other equipment (see “Sine wave power”).

To connect an external battery to a vent, consumers need a cable with adapter (obtained from the manufacturer) that plugs into the vent, and two inexpensive clamps to attach the other end of the cable to the battery terminals/posts.

A word of caution: Cable clamps must be attached to the proper positive and negative battery terminals to avoid damage to the vent’s electronics. If unsure about the proper connection, check with the vent manufacturer.

Bob Mauro, motivational speaker, artist and writer (author of Sucking Air, Doing Wheelies, PublishAmerica, 2005), saves his old wheelchair batteries, and now has seven in his collection. Even when they’re no longer able to power his chair, they have sufficient remaining energy to power his vent for six to 10 hours each. “We get about two to three [power outages] a year,” he said of his home in Levittown, N.Y. “Each usually lasts three to five hours. Once when the Northeast coast went out, it was out 22 hours.”

Battery construction

Consumers generally can choose among three battery types: flooded, gel cell and absorbed glass mat. All three are readily available at typical battery stores. The right one for your use will depend on cost and where the battery will be used.

Flooded batteries (common for automobile use) are usually the least costly, but they contain acid that can spill out if the battery turns over. They also give off hydrogen gas, so they shouldn’t be used indoors, including in a bedroom, unless the space is well ventilated (even when the power is out). They’re not recommended for travel.

Deltran Battery Tender supplies just enough power to keep batteries topped off.

Gel cell batteries have had silica gel added to their acid so it’s the texture of thick jelly. The battery is sealed, and even if broken, the acid won’t run out.

In absorbed glass mat (AGM) batteries, the acid is contained inside boron-silicate glass mats, and the battery is sealed, as well. Although they cost about the same, their rugged construction means AGMs can withstand shock and bumping better than gel cells, and can be charged up more rapidly.

Batteries also should be of the deep-cycle type, which means their electric charge can be drawn down (60 percent or more) and they can be recharged many times.

Keeping batteries charged

Obviously, it’s important that backup batteries are ready to go on short notice. Some battery chargers offer a quick-charge capability, but that’s not a wise option for extended periods. Much more preferable are trickle chargers (available at auto parts stores, electronics shops and from some vent manufacturers), that can be left hooked up to the batteries for long periods. This is the type that Mauro uses. Small portable chargers can be had for $50-60.

A variation on rapid and trickle chargers is the battery charger/tender. The device, which sells in the same price range as the other types, contains a microprocessor. Once it has fully charged a battery, it tapers off on the charge and maintains just enough input to keep the battery topped off.

As when selecting backup batteries, select a charger whose output in amps at least equals the amp rating of the vent. Chargers with smaller amp output can charge batteries with higher Ah ratings (see box), but may require hours more to do so.

Sine wave power

Some vents require higher quality pure sine wave power.

The 110-volt alternating current that comes from a wall outlet is characterized by pure sine energy. When viewed on an oscilloscope screen, the energy shows as identical, uniform sine waves.

Power from other sources, such as DC batteries and some portable generators, can produce modified sine wave power that appears as blocky, ragged or jerky waves, not smooth and even like pure sine power.

Some vents require pure sine energy to protect their sensitive internal electronics. Others don’t. Asking the manufacturer if pure sine power is required is the only way to be sure.

If using a DC battery to power a vent that requires pure sine power, it’s important to connect an inverter between the battery and vent. The inverter converts DC power to pure sine AC power that the vent can safely use. Inverters are usually sold at battery shops, some camping/RV supply outlets and on the Internet.

A Samlex inverter turns 12-volt battery power to pure sine wave energy.

Many vents use between 200 and 400 watts of electricity, so when purchasing an inverter (typically costing $150 and up), make sure it can produce at least as much wattage as the vent requires. Wattage ratings are included in the vent’s tech literature.

The family car

A multitude of devices can be plugged into the cigarette lighter receptacle of cars, boats and planes to tap the vehicle’s 12-volt DC power. In many cases that includes vents.  Check with the manufacturer to be sure.

Some vent makers sell a plug, wiring and connector to link up the vent to a vehicle through its cigarette lighter receptacle. A convenient way to keep the vent powered up while traveling, it’s also an option during power outages. Cord length is usually limited to about 12 feet, however, meaning it may be tricky to reach a vent user inside a home.  When getting power this way, it’s necessary to start up the car every hour and let it run for about 15 minutes.

Generators

Gasoline- and diesel-fueled electric generators come in many sizes, from small portables to large permanently mounted units located adjacent to homes. Costs range from less than a hundred to thousands of dollars.

This video demonstrates the proper way to connect respiratory equipment to a back-up battery. MDA thanks Mike O'Dower of Walgreen's Home Care in Tucson, Ariz., for providing the equipment shown. O'Dower reminds customers to periodically use back-up batteries (even those on battery chargers) to ensure they're fully charged.

Because vents use relatively little power and backup batteries can keep them going for days, a generator may not be needed at all, unless appliances and other equipment in the home need to be powered.

In all cases, generators must be operated outside because they give off lethal carbon monoxide exhaust. Although large generator systems may “kick in” automatically if an outage occurs, most portables must be started by hand with a pull-cord.

Advising utilities and emergency responders

Electric utility companies can sometimes select which areas will be without power when they intentionally cause “rolling black-outs” to reduce electrical demand. If a company has been advised in advance that electrical power is critical, it may be able to avoid including that person’s home in a black-out region.

Police and fire personnel also should be advised in advance that a person with ALS at a specific address may require special assistance or life-support equipment during evacuations.