Trial Information

Summary: Clinical Study of Spinal Muscular Atrophy Condition

Spinal Muscular Atrophy (SMA) is the leading genetic cause of death in infancy. It is a devastating disease that leads to progressive loss of those nerve cells that control our muscle bulk and movement. Patients develop increasing weakness in all muscles, eventually including those needed for breathing. In more than half of patients, SMA starts in infancy and typically leads to death within the first 2 years of life. In others, the disease begins in childhood and leads to significant disability.

SMA is caused by a defect in the Survival of Motor Neurons (SMN1) gene. Researchers are hopeful to find a cure, because nature has provided humans with a second gene, almost an identical copy of the SMN1 gene. Normally, the second gene does not contribute much, but researchers think that its function can be increased by medications.

To find out whether these medications help patients with SMA, we have to conduct clinical trials. Here, we propose to prepare for clinical trials. We are inviting SMA patients to join our research effort. We will examine them regularly to better understand their disease. The visits will include questions, physical exam, blood drawing, and sometimes X-rays and a skin biopsy. We will use modern computer methods to process the information. We are conducting this research in preparation for a clinical trial. Once the clinical trial begins, we will offer SMA patients participation if they meet the criteria for that trial. We will make sure that the participants’ privacy is maintained and that the study risks are as low as possible.

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.

Patient 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

Patient 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)

If you would like to learn more about participating in this study, please send an e-mail message using the form below.