Genzyme Genetics, a part of Genzyme Corporation, has announced that “it is the first national laboratory specializing in reproductive testing to provide population carrier and prenatal diagnostic testing for spinal muscular atrophy (SMA)….This test will enable couples who are planning a pregnancy, or who are already pregnant, to determine if they are carriers and at risk of having a baby with SMA.”

From the company’s press release:

The Genzyme Genetics SMA test offers results in approximately 7 to 11 days and is expected to have an approximately 94 percent detection rate of carriers overall and approximately the same detection rate for the most common and severe types of SMA in affected fetuses. SMA is characterized by progressive muscle degeneration of motor neurons, resulting in severe muscle weakness. In 60-70 percent of cases, children with SMA die from respiratory failure by age two.

Greater than 94% of SMA carriers have a deletion of one SMN1 gene. Genzyme’s new test utilizes quantitative PCR (polymerase chain reaction), a technology that can determine the number of SMN1 genes. An individual with one SMN1 gene is a carrier of SMA; a fetus with no SMN1 genes will be affected with SMA. SMA is caused when both parents have only one SMN1 gene. Approximately one in 41 people is a carrier of the SMA-causing gene, resulting in an incidence rate of 1 in 6,000-10,000 births. If both parents are found to be carriers, prenatal diagnosis by chorionic villi sampling or amniocentesis is available.

Genzyme Corporation was a sponsor of the 2007 FightSMA Annual Conference and is scheduled to participate in the 2008 conference next week.

To read the full press release, click here.

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FightSMA’s science director, Dr. Chris Lorson, is profiled in the Winter 2008 issue of the University of Missouri’s newsletter For All We Call Mizzou.

From the article, “Leading the fight against a killer of infants”:

Although many people have never heard of it, spinal muscular atrophy (SMA) is the leading genetic cause of death among infants. The neurodegenerative disease does not discriminate; it affects all ethnic groups and occurs in approximately one in 6,000 live births.

“It’s a remarkably common ‘rare’ disease,” says Chris Lorson, associate professor of veterinary pathobiology. “Most kids who develop the disease live two to five years. Treatments have been developed to extend that lifespan, but there is still no cure.”

Lorson, PhD ’97, a researcher in the Christopher S. Bond Life Sciences Center, is leading the national effort to change that. With joint appointments in the College of Veterinary Medicine and the School of Medicine, Lorson has been collaborating with researchers on campus and across the country to learn more about what causes the disease and what can be done to stop it.

“The genetics are very clear,” Lorson says. “A single gene is responsible for all clinical forms of the disease, and about 1 in 35 people carries the gene.”

When it functions normally, this particular gene, known as survival motor neuron 1 (SMN1) creates a protein necessary for motor neuron activity. Children born with a defective SMN1 gene suffer from neurodegeneration, which leads to severe muscle weakness and difficulty crawling, walking, controlling their head and neck, swallowing and even breathing.

Lorson, who is also scientific director for the nonprofit organization Fight SMA, says his team is working on a multifaceted approach that includes drug development, supportive care and a gene therapy program to replace the defective gene. Their work could offer insights into treating other diseases such as Parkinson’s, Alzheimer’s and muscular dystrophy.

“SMA represents an outstanding platform for modeling neurodegenerative disorders,” Lorson says. “It is truly an exciting time to be working in this area. Obtaining funding, however, has become a full-time job.”

To read the original article, click here.

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Researchers at the Neurogenetics Laboratory at the University of Miami (Fla.) announced earlier this month that they’ve identified the gene responsible for a rare X-chromosome-linked form of spinal muscular atrophy.

Led by Dr. Lisa Baumbach-Reardon and supported by the Muscular Dystrophy Association (MDA), the research team found that flaws in the UBE1 gene cause the X-chromosome form of the disease, which affects male babies and occurs in a small percentage of SMA cases. Its exact incidence is unknown.

To learn more, read the news release on the MDA website.

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Dr. John Bach (left), Professor of Physical Medicine and Rehabilitation and Professor of Neurosciences at UMDNJ-New Jersey Medical School, is currently conducting a FightSMA funded study entitled “Autonomic Dysfunction in Childhood Onset Spinal Muscular Atrophy.” While autonomic dysfunction in spinal muscular atrophy (SMA) patients has been recognized in clinical practice, it has not been officially studied or reported in literature. Dr. Bach and FightSMA hope to expand the understanding of the relationship between SMA and autonomic dysfunction with this study.

According to Dr. Bach, “about 20% of children with SMA type 1 and 2 have slowing of heart rate below 60 beats per minute. At times the slowing is to below 40 beats per minute and results in loss of consciousness.” Dr. Bach goes on to explain that in some cases children have died suddenly because their heart rates dropped to zero. Heart rate is largely controlled by the “autonomic nervous system” (ANS) which is divided into two systems, the sympathetic and the parasympathetic. The sympathetic part causes the heart to speed up and the parasympathetic causes the heart to slow down. An imbalance between the two parts can result in a heart arrhythmia (a disturbance in the rhythm of the heartbeat) and can cause the heart to stop. Dr. Bach explains:

“Slowing, what we call “bradycardias”, can be a reaction to the heart “racing”, a “tachycardia”. Thus, anything that causes the heart rate to speed up like a fever, mucus plug, or excitement, that is, sympathetic stimulation, might result in a reactive bradycardia. Bradycardias can also occur without a tachycardia. In this case it would be from too little sympathetic activity to counter balance parasympathetic stimulation…The purpose of our study is to determine the sympathetic-parasympathetic balance of the innervations of the heart to help us figure this out.”

Using noninvasive equipment to record heart rate variability and respirations, the study compares the ANS activity of 100 SMA patients to the ANS of 100 control subjects of matching age and gender. Analysis of the data gathered may help identify autonomic dysfunction and determine treatment strategies. Dr. Bach continues to receive SMA patients for this study at his office in New Jersey.

For more information, please contact:
John R. Bach, MD
Physical Medicine and Rehabilitation
University of Medicine & Dentistry of New Jersey
90 Bergen Street, DOC 3100
Newark NJ 07103
Practice Phone: 973-972-2802
Email: bachjr@umdnj.edu
Website: www.doctorbach.com

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Scientists in Japan and the United States recently announced a scientific breakthrough that could induce human skin cells to act as embryonic stem cells do. From the New York Times November 27th article “After Stem-Cell Breakthrough, the Work Begins:”

Biologists were electrified on Tuesday, when scientists in Japan and Wisconsin reported that they could turn human skin cells into cells that behave like embryonic stem cells, able to grow indefinitely and to potentially turn into any type of tissue in the body.

The discovery, if it holds up, would decisively solve the raw material problem. It should provide an unlimited supply of stem cells without the ethically controversial embryo destruction and the restrictions on federal financing that have impeded work on human embryonic cells.

But scientists still face the challenge of taking that abundant raw material and turning it into useful medical treatments, like replacement tissue for damaged hearts and brains. And that challenge will be roughly as daunting for the new cells as it has been for the embryonic stem cells.

“Even though we have this nice new sources of cells, it doesn’t solve all the downstream problems of getting them into the body in useful form,” said James A. Thomson of the University of Wisconsin, who led one of the teams that developed the stem cell substitutes. Dr. Thomson was also the first to isolate human embryonic stem cells, about a decade ago.

Still, the new discovery should accelerate progress — if only because with the ethical issues seemingly out of the way, more scientists and money will be drawn to the field.

To read the whole article, click here.

Dr. Douglas Kerr, Associate Professor of Neurology, Molecular Microbiology and Immunology at Johns Hopkins and member of the FightSMA Scientific Advisory Board shares his thoughts on this important development:

I think the iPS studies are tremendously exciting. These are important studies for several reasons. First, it may make for a fairly quick way to derive cells from patients with genetic diseases and to create in vitro models of these diseases by differentiating them into relevant cell types. We could learn a lot mechanistically about these diseases and we could initiate high throughput screening to develop new treatments. Secondly, this could ultimately mean we could autologously transplant patients by making pluripotent stem cells from a patient’s own somatic cells, differentiating those cells into cell damaged by disease and transplanting them. Genetically identical, no risk of infection or immune rejection. But even if this new science is replicated and widely achievable, it is a decade or more to first in human. The ‘cocktail’ for reprogramming skin cells involves viral delivery of 4 genes, including oncogenes given by viral delivery. So, there are several things to worry about. 1) skin cells and indeed all somatic cells have gone through many cell doublings by the time they terminally differentiate. If you de-differentiate them and ask them to be ES-like cells, they go through many more cell doublings in cell culture. Each cell doubling raises the chance of mutations, telomere shortening and the other cellular features of old age. 2) What if the oncogenes used to reprogram the stem cells cannot be controlled and cause cancer? Pluripotency in normal ES cells exists within a developmental program and is regulatable/controllable. Pluriptency in these artificial ES-like cells is likely to be not regulatable and especially with the problems noted above, cancers more likely. 3) the clinical hurdles required for cell therapies with 4 viral vector gene therapies to make these cells pluripotent is going to be far more complex than normal ES cells.

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Notice Number: NOT-FD-08-001
Release Date: September 24, 2007
Issued by: Food and Drug Administration/Office of Orphan Products Development and Food and Drug Administration

The Food and Drug Administration’s (FDA) Office of Orphan Products Development (OOPD) is pleased to announce the availability of funds for fiscal year (FY) 2009 and FY 2010 grant awards to support clinical trials on the safety and effectiveness of products for rare diseases and conditions. Contingent on availability of FY 2009 and FY 2010 funds, it is anticipated that $14.2 million will be available for new applications, competing awards, and non competing continuation awards. For FY 2009, the application receipt date is February 6, 2008, and for FY 2010, the application receipt date is February 4, 2009.

These studies are intended to provide acceptable data to the FDA that will substantially contribute to the approval of new products, or new indications for already marketed products. In the FDA OOPD grants program, products for rare diseases and conditions (orphan products) are defined as drugs, biologics, medical devices, and medical foods indicated to treat or diagnose a rare disease or condition with a prevalence of fewer than 200,000 people in the United States.

To read the complete notice, click here.

**********************************

Participating Organizations: Food and Drug Administration (FDA)

Components of Participating Organizations: Office of Orphan Products Development (OPD)

Title: Clinical Studies of Safety and Effectiveness of Orphan Products; Research Project Grant (R01)

Request for Application (RFA) Number: RFA-FD-08-001

Opening Date: January 6, 2008 (Earliest date an application may be submitted to Grants.gov)

Application Submission/Receipt Date(s): February 6, 2008; February 4, 2009

Expiration Date: February 5, 2009

For more information, click here. For additional funding opportunities from the National Institutes of Health, click here.

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There’s an article in the latest issue of Neurology Today that covers the recent SMA Drug Summit. The summit, held in Washington D.C. and sponsored by Fight SMA, Families of SMA, and SMA Foundation, was held to foster the development of spinal muscular atrophy drugs that could be tested in clinical trials facilitated by the International Coordinating Committee.

The article includes an update on some of the drugs currently being tested that might show promise in treating SMA.

Click here to read the story, in PDF format.

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A new article from researchers at Peninsula Medical School in Exeter, UK charts out ongoing studies at the school that they hope will lead to a treatment for some victims of spinal muscular atrophy (SMA).

Researchers […] have carried out studies into one of the two survival motor neuron (SMN) genes that set suffers from SMA apart from the rest of the population. In 98% of SMA sufferers, the SMN protein is only produced from one of these genes. The resulting fall in SMN protein levels is what causes SMA to develop.

The remaining two per cent of SMA sufferers produce normal levels of SMN protein, but the protein is altered so that it is no longer capable of performing its normal functions within the body. One of the main reasons for this is that these disease-causing alterations in the SMN protein prevent it from localising to the correct places in the body¡¯s cells. By looking at why mutations occur and what they do to divert protein away from the cellular areas where it is required, the Peninsula Medical School team may be able to identify compounds that alter the protein so that it is directed correctly ¨C effectively producing a treatment for the disease.

The research could also have potential bearings on other treatments, such as gene therapy.

The paper highlighting this research is the first to be published by this particular research team, and it has made the front cover of Human Molecular Genetics, a remarkable achievement for a first time publication.

Read the entire article on EurekaAltert. 

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A reminder that a satellite symposium on SMA entitled “NMJ in spinal muscular atrophy - the chicken or the egg?” is being sponsored by Families of SMA, FightSMA, MDA, and SMA Foundation. The event, to be held Monday, November 5, 2007 at 6:30pm in the Annie Room of the Manchester Grand Hyatt San Diego, will be moderated by Dr. Michael Sendtner of the Universität Würzburg Institut für Klinische Neurobiologie in Germany. After refreshments from 6:30-7:10 PM, the meeting agenda is as follows:

For more information, meeting attendees can stop by the SMA organizations’ booth, #4301.

A list of more upcoming professional meetings can be found at the FightSMA website.

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FightSMA will be hosting booth #37 at the 36th Annual Child Neurology Society Meeting being held this week in Quebec City, Quebec. Doctors and researchers will receive general information about Spinal Muscular Atrophy, current and future clinical trials, and the SMA Treatment Acceleration Act. Also, visitors to the booth will have opportunities to discuss with FightSMA Scientific Advisor Dr. Alex MacKenzie.

During the Society for Neuroscience’s 37th Annual Meeting in November, a satellite symposium on SMA entitled “NMJ in spinal muscular atrophy - the chicken or the egg?” will be held Monday, November 5, 2007 at 6:30pm in the Annie Room of the Manchester Grand Hyatt San Diego. This event is being sponsored by Families of SMA, FightSMA, MDA, and SMA Foundation. For more information, meeting attendees can stop by the SMA organizations’ booth, #4301.

A list of more upcoming professional meetings can be found at the FightSMA website.

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