Clinical Study of Spinal Muscular Atrophy

Not Recruiting

Trial ID: NCT00443066

Purpose

The investigators propose to prepare for clinical trials where SMA patients are asked to join the research effort. The visits will include questions, physical exam, blood drawing, and sometimes X-rays and a skin biopsy. The investigators will use modern computer methods to process the information during which the investigators will plan a clinical trial. Once the clinical trial begins, the investigators will offer SMA patients participation if they meet the criteria for that trial. Identifying an effective SMA treatment is very important because there is currently none. Clinical trials are the only way to decide whether a new treatment works in SMA patients or not.

Official Title

Clinical Study of Spinal Muscular Atrophy

Stanford Investigator(s)

John W. Day, MD, PhD
John W. Day, MD, PhD

Professor of Neurology and Neurological Sciences (Adult Neurology), of Pediatrics (Genetics) and, by courtesy, of Pathology

Eligibility

Inclusion Criteria

* Clinical diagnosis of Spinal Muscular Atrophy
* Genetic diagnosis of SMN gene deletion
* Parents or if applicable subjects must give informed consent
* must be capable of complying with the study procedures
* Female subjects of child-bearing potential must agree to undergo pregnancy test prior to radiological studies
* Diagnosis of SMA before age 19 years

Exclusion Criteria:

* Unstable medical condition precluding participation
* Significant respiratory compromise that would interfere with safe travel to site of evaluation. (The clinical site PI decides when air travel is not recommended and when the patient's location is not within a reasonably safe driving distance (upper limit 150-250 miles)

Not Recruiting

Contact Information

Stanford University
School of Medicine
300 Pasteur Drive
Stanford, CA 94305