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Biobank Collecting Blood Samples for Neuromuscular Disease Research

December 28, 2010

Filed under: Studies and Clinical Trials

People with genetic neuromuscular diseases who want to “do something for science” now have a way to do so, although they’re unlikely to ever know the results of their good deed.

Scientists at the National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository at the Coriell Institute for Medical Research in Camden, N.J., are seeking blood samples from people with certain inherited neuromuscular diseases for use in research.

In particular, the biobank needs blood samples from people with muscular dystrophy, motor neuron diseases, metabolic diseases of muscle, peripheral nerve diseases, diseases of the neuromuscular junction and other myopathies. Most of the diseases covered by MDA are included in these categories.

“We try to have a broad representation in the repository of as many different genetic diseases as possible, and within diseases we try to represent as many genotypes/phenotypes as possible,” says Tara Schmidlen, a genetic counselor who coordinates the admittance of samples into the NIGMS biobank.

An exact genetic diagnosis is not required for a sample to be added to the bank, although the more clinical information that can be provided, the more useful the sample will be to researchers, Schmidlen says.

The biobank does not perform individual genetic testing and once a sample is submitted, it cannot be removed.

Numerous measures are taken to protect the privacy and anonymity of the donor, but these measures also prevent any personal information from being derived from the sample. The bank does not provide results of any kind to donors.

Rather, the anonymous samples are used by researchers around the world who use cell lines and DNA to discover new disease-causing genes; study known genes and their expression; and devise new genetic tests.

Samples from the NIGMS biobank, the world’s largest, have been used in more than 5,000 scientific publications and by scientists in more than 50 countries, the organization says.

Participation requires a blood or tissue sample, as well as a completed consent form, a submission form, and a clinical information summary form.

The Coriell Institute for Medical Research mails participants a collection kit and pays for the cost of shipping the sample, but not the costs associated with collecting it.

Genetic Factors Clinical Study

April 28, 2010

Researchers at the University of Miami are investigating genetic factors that contribute to Charcot Marie Tooth disease.  Any individual with a diagnosis of CMT and his/her selected family members can participate.  Participation involves providing a small blood sample, a family history interview, and a release of medical records related to CMT.  Travel is not required.
Contact Susan Hahn at 877-686-6444, or email

Dr. Michael Shy to lead $6.25 million NIH research program on Charcot Marie Tooth

November 28, 2009

The National Institutes of Health announced recently a second phase of the Rare Diseases Clinical Research Network totaling $117 million which includes funds for 19 research consortia.

Wayne State University received a five-year, $6.25 million research consortium grant from the National Institute of Neurological Disorders and Stroke under this program. The grant, “Inherited Neuropathies Consortium,” is an international project aimed at developing a better understanding of and new treatments for the various forms of Charcot-Marie-Tooth disease.

Charcot-Marie-Tooth disease (CMT) is one of the most common genetic nerve diseases, affecting 1 in 2,500 people, or 120,000 Americans. CMT causes progressive muscle weakness, painful foot deformities and walking difficulty. As the disease progresses, weakness and muscle atrophy occur in the hands, resulting in difficulty with fine motor skills. Symptoms vary from patient to patient, with pain ranging from mild to severe, with some patients relying on foot or leg braces or other orthopedic devices to maintain mobility. To date, no effective therapies are available for any form of CMT.

To address this issue, Dr. Michael Shy, M.D., professor of neurology in the School of Medicine, and resident of Bloomfield Hills, Mich., is leading the study which aims to provide insights into disease mechanisms, develop therapies and educate future research on inherited neuropathies such as CMT.

According to Shy, there are mutations in more than 40 different genes causing CMT in millions of patients throughout the world. “Modern genetics and cell biology make developing treatments for these disorders a realistic possibility,” said Shy. “However, many of the individual forms of CMT are rare, so to better understand the different forms of CMT and develop rational treatments for them requires national and international collaborations between neurologists and scientists.”

The project has specific goals geared toward establishing a Rare Disease Clinical Research Center (RDCRC) for the inherited neuropathies. In particular, the group will determine the natural history of the most common forms of CMT that currently lack this information.

“At Wayne State, we have pioneered the natural history studies for the two most common forms of CMT – CMT1A and CMTX,” said Shy. “Our results are used by neurologists around the world to design clinical trials for these disorders. However, for the types of CMT to be studied in this project, we do not see enough patients at WSU to perform natural history studies by ourselves, hence the critical nature of having a national and international collaboration.”

In addition, the project aims to identify ‘modifier genes’ in CMT1A, the most common inherited neuropathy. CMT1A comprises about half of all the patients with CMT and is caused by an identical genetic mutation in all patients.

In collaboration with the Human Genomic Institute at the University of Miami, the group will use 21st century gene sequencing techniques to identify these modifier genes that will help determine how severely patients will be affected. Using the same techniques, the University of Miami researchers will identify the genetic cause of CMT in families in which only a few members have been affected, something previously not possible.

The project also will study children affected by CMT. The consortium will develop a pediatric scoring system that will be used around the world to measure impairment and progression of disability in children with CMT. The collaborators also will establish a new CMT Web site to provide patients, their families and scientists around the world with the latest CMT information. In addition, the consortium will carry out an international training program for clinical and research doctors to train the next generation of researchers for CMT and other neurodegenerative diseases.

Wayne State University has one of the largest and most comprehensive CMT programs in the world. The program is translational, combining patient care and patient clinical research with animal and cellular models of CMT. Since 1996, WSU has evaluated more than 1,200 patients with CMT from more than 21 countries, five continents and 46 states in addition to Michigan, with funding coming from the National Institutes of Health, Muscular Dystrophy Association and Charcot-Marie-Tooth Association.

Along with Shy, project collaborators include Gyula Acsadi, M.D., Ph.D., associate professor of neurology at WSU and director of the Pediatric MDA Clinic and Pediatric Neurology Clinical Division Chief at Children’s Hospital of Michigan; Steve Scherer, M.D., Ph.D., William Kelly professor of neurology and vice chair for research in neurology at the University of Pennsylvania; Mary M. Reilly, M.D., director of the neuropathy clinic at the National Hospital for neurology and neurosurgery in London, England, and head of the Peripheral Neuropathy component of the MRC Centre for Neuromuscular Diseases at Newcastle University and the National Hospital for Neurology and Neurosurgery; Francesco Muntoni, M.D., professor and consultant in paediatric neurology in the Dubowitz Neuromuscular Centre at the University College of London Institute of Child Health; Stephan Zuchner, M.D., associate professor of medicine, Miami Institute of Human Genomics, University of Miami; Jeffery Vance, M.D., professor of medicine and director of the division of human genomics, University of Miami; and David Herrmann, M.D., associate professor of neurology and pathology, School of Medicine, University of Rochester.

“This international project establishes Wayne State University’s Department of Neurology as the leading inherited neuropathy program in the U.S. and around the world,” said Dr. Robert Lisak, chair of neurology in the School of Medicine. Under Dr. Shy’s leadership, this consortium will bring us much closer to the development of effective treatments for the various forms of CMT.”

Call for Patients to Complete a Questionnaire: Hereditary Neuropathy and Vocal Cord Problems

November 24, 2005

Filed under: Studies and Clinical Trials

It has been known for some time that certain types of Charcot-Marie-Tooth disorder (CMT) involve the muscles of the larynx (voice box), and there is reason to think that such problems may be more common than doctors have realized. The Hereditary Neuropathy Foundation is supporting a major new research effort to shed light on this problem. As part of this work, we are interested in learning how many people with CMT have problems that may be related to weakness of the vocal folds (vocal cords).
You qualify to complete the questionnaire if you are 18 years old or older and have Charcot-Marie-Tooth disorder. If you agree to be in this study, you will complete a web based questionnaire about your symptoms and disease. It will take about fifteen minutes to complete the questionnaire. There are no known risks associated with your participation in this research beyond those of everyday life. You will not be paid for participating in this questionnaire. To join in this study, click here.
If you have questions or wish to report a research-related problem, you may contact Celia Stewart, Ph.D. at 212-998-5262, For questions about your rights as a research participant, you may contact the University Committee on Activities Involving Human Subjects, New York University, 212-998-4808 or

Call for Patients: Hereditary Neuropathy and Vocal Cord Problems

March 29, 2005

Filed under: Studies and Clinical Trials

It has been known for some time that certain types of Charcot-Marie-Tooth disorder involve the muscles of the larynx (voicebox). There is reason to think that such problems may be more common than doctors have realized. The Hereditary Neuropathy Foundation is supporting a major new research effort to shed light on this problem. As part of this work, we are interested in examining patients with problems that may be related to weakness of the vocal folds (vocal cords).


CMT Database Project Seeks Participants

February 7, 2005

Filed under: Studies and Clinical Trials

The January/February issue of Quest (from MDA) mentions the search for participants in the CMT Database. You can also contact Carly Siskind at (313) 577-5273 or

Clinical trials

February 6, 2005

Filed under: Studies and Clinical Trials

MDA’s web site is listing three clinical trials that people with Dejerine-Sottas are eligible for. Please note that these trials are not designed to test treatments for Dejerine-Sottas in particular; rather, the researchers are looking to determine the safety of creatine monohydrate in children with neuromuscular diseases, develop a painless, noninvasive, diagnostic technique called “EIM” (electrical impedance myography), and compare biological markers in the blood of subjects with and without amyotrophic lateral sclerosis (ALS).

Call for CMT or Dejerine-Sottas Patients

September 17, 2004

Filed under: Studies and Clinical Trials

The laboratory of Dr. Lisa Baumbach at the University of Miami has recently discovered a new DNA polymorphism in the pmp-22 gene in the CMT1A duplication region. The polymorphism appears to be specific to individuals of African American heritage and was found in conjunction with other disease-causing mutations in two unrelated severely affected CMT patients of African-American descent. Dr. Baumbach?s laboratory is requesting blood specimens from any CMT or Dejerine-Sottas patients of African American heritage, for further molecular studies related to this polymorphism and genotype:phenotype correlations. For further information, please contact
Dr. Lisa Baumbach
University of Miami School of Medicine
Room 6021, MCCD
1601 NW 12 Avenue
Miami, FL 33136
phone (305)243-3997;
fax (305)243-3919;