Clinical trials and studies

Clinial trials are experiments conducted using human participants that seek to determine the value of a potential treatment, such as a drug, dietary supplement or exercise program. Most trials compare a treated group of participants with a “control,” or comparison, group, which receives an inert substance ("placebo") or a sham treatment.

Many trials are divided into phases, the first of which is usually quite small and almost always designed only to assess the safety of the new treatment and how well it’s tolerated. Phases 2 and 3 of a trial are larger and address questions of effectiveness and dose.

The term "study" implies either a trial or a more general research question under investigation, such as how many people with a certain set of symptoms have a particular genetic change or how parents cope with raising a child with a disability.

To learn more about the purposes and risks of clinical trials, please go to www.clinicaltrials.gov or MDA Clinical Trials & Studies of Neuromuscular Disease.

• The CMT North American Database
• Creatine monohydrate -- safety in children with neuromuscular disorders
• Electrical Impedance Myography (EIM) in NMD
• Metabolomic Signatures in Amyotrophic Lateral Sclerosis (ALS)
• Call for Patients: Hereditary Neuropathy and Vocal Cord Problems
• Exercise Habits Among Persons with Charcot-Marie-Tooth Disease

The CMT North American Database

The CMT Clinic at Wayne State University, Detroit, in collaboration with members of the Medical and Molecular Genetics Department at Indiana University, are pleased to announce the establishment of a North American CMT Database to be housed at Indiana University. This database will contain clinical and genetic information on patients with CMT in North America.

Using the sophisticated tools of molecular biology, scientists have recently found that mutations in any one of at least seven different genes can cause Charcot-Marie-Tooth disease. Because disease severity in CMT is quite variable, even among patients with the same genetic mutation, these important findings have not led to similar advances in understanding either how these mutations cause the symptoms of CMT or how the disease can be treated. To remedy this situation, the database will provide researchers with a significant number of uniformly characterized patients with different types of CMT.

The clinical information in this database can be used by researchers to further investigate the way in which mutations cause disease. In addition, this population of patients will provide researchers with a well-characterized population with which to carry out clinical trials or to find new genes causing CMT. Patients will not be entered into the database without their permission, and confidentiality of patient information will be strictly maintained. Information from the database will be made available to qualified scientists performing research on the causes and treatment of CMT.

Creatine monohydrate -- safety in children with neuromuscular disorders (UCSF)

Creatine monohydrate is a dietary supplement used by body builders to help increase muscle mass. Many people are using this supplement to see if it helps with nerve and muscle disorders. Dietary supplements are not regulated by the Food and Drug Administration. The investigators say that, since there may be significant side effects from this supplement, especially in children, they are undertaking this study to determine the safety of this treatment.

Electrical Impedance Myography (EIM) in NMD

The Department of Neurology at Beth Israel Deaconess Medical Center in Boston are conducting a research study involving the development of new technology for the assessment of muscle weakness. Their goal is to develop a new, painless, noninvasive, diagnostic technique called "EIM" (electrical impedance myography) that will be a useful tool in initially evaluating and following patients with neuromuscular disease. The investigators expect that this technique will allow them to follow disease progression in a quantitative way that is not currently clinically available.

Metabolomic Signatures in Amyotrophic Lateral Sclerosis (ALS)

The purpose of the study is to compare biological markers in the blood of subjects with and without amyotrophic lateral sclerosis (ALS). Specifically, we are looking for differences between the blood of subjects with ALS and those with other disorders, including peripheral nervous system diseases, inflammatory myopathies (inflammatory muscle diseases), and Alzheimer’s disease. Samples will also be compared with those from healthy subjects (controls).

Call for Patients: Hereditary Neuropathy and Vocal Cord Problems

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).

CLOSED: Exercise Habits Among Persons with Charcot-Marie-Tooth Disease

The purpose of the study is to identify exercise habits and the main reasons for not exercising among persons with Charcot-Marie-Tooth disease (CMT). Another purpose of the study is to determine the relationship between the type of CMT the person has, the score on the Short Form 36 (SF-36) Health Survey Questionnaire, and the amount and type of exercise he or she does.

Recruitment for this study is closed.