Clinical Study of Spinal Muscular Atrophy

NCT ID: NCT00443066

Last Updated: 2023-03-21

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 120 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2005-05-31
• Study Completion Date: 2011-08-17

Brief Summary

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.

Detailed Description

Spinal Muscular Atrophy (SMA) is one of the most devastating neurological diseases of childhood. Affected infants and children suffer from progressive muscle weakness caused by degeneration of lower motor neurons in the spinal cord and brainstem. Clinically, four phenotypes are distinguished within the continuous spectrum of disease severity based on the age of onset and the highest motor milestone ever achieved. SMA is caused by homozygous deletion of the survival motor neuron-1 (SMN1) gene. A related gene, SMN2, produces low levels of full-length SMN protein due to inefficient splicing. There is an inverse correlation between SMN copy number and disease severity, presumably mediated by levels of full length SMN protein. Therefore, increasing the amount of full-length SMN protein is a promising treatment strategy. Several drugs targeting splicing efficiency have resulted in increased SMN protein in preclinical assays and are now awaiting clinical testing.

With the future objective to conduct clinical trials in SMA, the proposed project has 3 specific aims: 1) To establish a web-based database that will serve to enroll the patient population and that will facilitate timely recruitment for future clinical trials; (2) to plan for clinical trials by a) developing reliable outcome measures, and (b) establishing the infrastructure needed to carry out efficient clinical trials, (c) convening meetings of preclinical and clinical researchers involved in SMA drug development to select candidate drugs, and (3) to characterize the patient population from a clinical and molecular point of view.

Conditions

Spinal Muscular Atrophy

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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)

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

The Spinal Muscular Atrophy Foundation

OTHER

Sponsor Role: collaborator

Columbia University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Darryl C De Vivo, MD

Role: PRINCIPAL_INVESTIGATOR

Columbia University

Locations

Columbia University SMA Clinical Research Center

New York, New York, United States

Countries

United States

Other Identifiers

CU52029001

Identifier Type: OTHER

Identifier Source: secondary_id

AAAB1635

Identifier Type: -

Identifier Source: org_study_id