NIH Clinical Research Studies

Protocol Number: 03-N-0203

Active Followup, Protocols NOT Recruiting New Patients

Title:
SMN Levels in Peripheral Blood Samples of SMA Patients and the Effects of Pharmacological Compounds In Vitro
Number:
03-N-0203
Summary:
Spinal muscular atrophy (SMA) is a disorder that affects the motor neurons. SMA is caused by a mutation in a part of the DNA called the survival motor neuron (SMN1) gene, which normally produces a protein called SMN. Because of their gene mutation, people with SMA make less SMN protein, which results in the loss of motor neurons. SMA symptoms may be improved by increasing the levels of SMN protein. The purpose of this study is to determine whether a drug called a histone deacetylase inhibitor can increase SMN levels.

After undergoing a general medical and neurological evaluation, study participants will donate a blood sample. Researchers will use this sample to measure SMN levels. They will also isolate cells from the blood and treat the cells with various drugs that may increase SMN levels.

Sponsoring Institute:
National Institute of Neurological Disorders and Stroke (NINDS)
Recruitment Detail
Type: Completed Study; data analyses ongoing
Gender: Male & Female
Referral Letter Required: No
Population Exclusion(s): None

Eligibility Criteria: This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
Special Instructions:
Currently Not Provided
Keyword(s):
Motor Neuron Disease
Neuromuscular Disease
Histone Deacytelase Inhibitors
Recruitment Keyword(s):
Spinal Muscular Atrophy
SMA
Neuromuscular Disease
Motor Neuron Disease
Condition(s):
Spinal Muscular Atrophy
Investigational Drug(s):
None
Investigational Device(s):
None
Interventions:
None
Supporting Site:
National Institute of Neurological Disorders and Stroke

Contact(s):
This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Citation(s):
Crawford TO, Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis. 1996 Apr;3(2):97-110. Review. No abstract available.

Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 1978 Dec;15(6):409-13.

Nicole S, Diaz CC, Frugier T, Melki J. Spinal muscular atrophy: recent advances and future prospects. Muscle Nerve. 2002 Jul;26(1):4-13. Review. PMID: 12115944

Active Followup, Protocols NOT Recruiting New Patients

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