Protocol Number: 03-N-0203

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: Active Accrual Of New Subjects

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria:

INCLUSION CRITERIA:

Diagnosis of SMA with genetically proven mutations in the SMN1 gene or unaffected family members (age greater than or equal to 2 years).

No exposure to valproic acid or any other HDAC inhibitors for a period of at least 2 weeks.

Written, informed consent (and assent, if applicable).

EXCLUSION CRITERIA:

History of valproic acid or other HDAC inhibitor use within the past14 days.

History of bleeding disorder, which would make a blood draw unsafe.

Special Instructions: Currently Not Provided

Keywords:

Motor Neuron Disease

Neuromuscular Disease

Histone Deacytelase Inhibitors

Recruitment Keywords:

Spinal Muscular Atrophy

SMA

Neuromuscular Disease

Motor Neuron Disease

Conditions:

Spinal Muscular Atrophy

Investigational Drug(s):

None

Investigational Device(s):

None

Contacts:

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:

Crawford TO, Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis. 1996 Apr;3(2):97-110. Review. No abstract available. PMID: 9173917

Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 1978 Dec;15(6):409-13. PMID: 745211

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

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
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Bethesda, Maryland 20892. Last update: 10/16/2004