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Measuring Levels of SMN in Blood Samples of SMA Patients

This study has been completed.
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute of Neurological Disorders and Stroke (NINDS) ) Identifier:
First received: May 29, 2003
Last updated: April 19, 2017
Last verified: April 4, 2017

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.

Spinal Muscular Atrophy

Study Type: Observational
Official Title: SMN Levels in Peripheral Blood Samples of SMA Patients and the Effects of Pharmacological Compounds In Vitro

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Enrollment: 73
Study Start Date: May 19, 2003
Estimated Study Completion Date: April 4, 2017
Detailed Description:
Spinal muscular atrophy (SMA) is a currently untreatable, autosomal recessive motor neuron disease that is caused by deficiency of full-length survival motor neuron (SMN) protein. One promising therapeutic approach to SMA is to pharmacologically increase full-length SMN protein levels. Several compounds have been shown to increase SMN levels in immortalized cell lines derived from SMA patients. The objective of this study is to determine baseline SMN levels in primary peripheral blood cells of SMA patients and heterozygous carriers compared to unaffected controls and to investigate the effects in vitro of pharmacological compounds that are expected to increase SMN levels. It is anticipated that these studies will provide further evidence to support the use of one or more of these compounds in a clinical trial for SMA patients. The study population will include patients with genetically proven type I, II, or III SMA and their family members. Blood samples from anonymous, unaffected control patients will be obtained through the department of transfusion medicine (99-CC-0168). This is an investigative study that involves blood drawing only. No new therapy will be provided except the standard of care.

Ages Eligible for Study:   2 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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.

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Please refer to this study by its identifier: NCT00061607

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Kenneth H Fischbeck, M.D. National Institute of Neurological Disorders and Stroke (NINDS)
  More Information

Responsible Party: National Institute of Neurological Disorders and Stroke (NINDS) Identifier: NCT00061607     History of Changes
Other Study ID Numbers: 030203
Study First Received: May 29, 2003
Last Updated: April 19, 2017

Keywords provided by National Institutes of Health Clinical Center (CC):
Motor Neuron Disease
Neuromuscular Disease
Histone Deacytelase Inhibitors
Spinal Muscular Atrophy

Additional relevant MeSH terms:
Muscular Atrophy, Spinal
Muscular Atrophy
Pathological Conditions, Anatomical
Spinal Cord Diseases
Central Nervous System Diseases
Nervous System Diseases
Motor Neuron Disease
Neurodegenerative Diseases
Neuromuscular Diseases
Neuromuscular Manifestations
Neurologic Manifestations
Signs and Symptoms processed this record on April 24, 2017