Measuring Levels of SMN in Blood Samples of SMA Patients
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|ClinicalTrials.gov Identifier: NCT00061607|
Recruitment Status : Completed
First Posted : May 30, 2003
Last Update Posted : October 6, 2017
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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.
|Condition or disease|
|Spinal Muscular Atrophy|
|Study Type :||Observational|
|Actual Enrollment :||73 participants|
|Official Title:||SMN Levels in Peripheral Blood Samples of SMA Patients and the Effects of Pharmacological Compounds In Vitro|
|Study Start Date :||May 19, 2003|
|Study Completion Date :||April 4, 2017|
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|Ages Eligible for Study:||2 Years and older (Child, Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||No|
- 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).
History of valproic acid or other HDAC inhibitor use within the past14 days.
History of bleeding disorder, which would make a blood draw unsafe.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00061607
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Kenneth H Fischbeck, M.D.||National Institute of Neurological Disorders and Stroke (NINDS)|
|Responsible Party:||National Institute of Neurological Disorders and Stroke (NINDS)|
|Other Study ID Numbers:||
|First Posted:||May 30, 2003 Key Record Dates|
|Last Update Posted:||October 6, 2017|
|Last Verified:||April 4, 2017|
Motor Neuron Disease
Histone Deacytelase Inhibitors
Spinal Muscular Atrophy
Muscular Atrophy, Spinal
Pathological Conditions, Anatomical
Nervous System Diseases
Spinal Cord Diseases
Central Nervous System Diseases
Motor Neuron Disease