- ICH GCP
- US Clinical Trials Registry
- Klinisk forsøg NCT00061607
Measuring Levels of SMN in Blood Samples of SMA Patients
SMN Levels in Peripheral Blood Samples of SMA Patients and the Effects of Pharmacological Compounds In Vitro
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.
Studieoversigt
Status
Betingelser
Detaljeret beskrivelse
Undersøgelsestype
Tilmelding (Faktiske)
Kontakter og lokationer
Studiesteder
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Maryland
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Bethesda, Maryland, Forenede Stater, 20892
- National Institutes of Health Clinical Center, 9000 Rockville Pike
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Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
Tager imod sunde frivillige
Køn, der er berettiget til at studere
Beskrivelse
- 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.
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Samarbejdspartnere og efterforskere
Publikationer og nyttige links
Generelle publikationer
- Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet. 1978 Dec;15(6):409-13. doi: 10.1136/jmg.15.6.409.
- Crawford TO, Pardo CA. The neurobiology of childhood spinal muscular atrophy. Neurobiol Dis. 1996 Apr;3(2):97-110. doi: 10.1006/nbdi.1996.0010. No abstract available.
- Nicole S, Diaz CC, Frugier T, Melki J. Spinal muscular atrophy: recent advances and future prospects. Muscle Nerve. 2002 Jul;26(1):4-13. doi: 10.1002/mus.10110.
Datoer for undersøgelser
Studer store datoer
Studiestart
Studieafslutning
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Skøn)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Nøgleord
Yderligere relevante MeSH-vilkår
Andre undersøgelses-id-numre
- 030203
- 03-N-0203
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