NCT00061607

Brief 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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
73

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started May 2003

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

May 19, 2003

Completed
10 days until next milestone

First Submitted

Initial submission to the registry

May 29, 2003

Completed
1 day until next milestone

First Posted

Study publicly available on registry

May 30, 2003

Completed
13.9 years until next milestone

Study Completion

Last participant's last visit for all outcomes

April 4, 2017

Completed
Last Updated

October 6, 2017

Status Verified

April 4, 2017

First QC Date

May 29, 2003

Last Update Submit

October 5, 2017

Conditions

Spinal Muscular Atrophy

Keywords

Motor Neuron DiseaseNeuromuscular DiseaseHistone Deacytelase InhibitorsSpinal Muscular AtrophySMA

Eligibility Criteria

Age2 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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).

You may not qualify if:

  • History of valproic acid or other HDAC inhibitor use within the past14 days.
  • History of bleeding disorder, which would make a blood draw unsafe.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

  • 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.

    PMID: 9173917BACKGROUND

  • 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.

    PMID: 745211BACKGROUND

  • 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.

    PMID: 12115944BACKGROUND

MeSH Terms

Conditions

Muscular Atrophy, SpinalMotor Neuron DiseaseNeuromuscular Diseases

Condition Hierarchy (Ancestors)

Spinal Cord DiseasesCentral Nervous System DiseasesNervous System DiseasesNeurodegenerative Diseases

Study Officials

  • Kenneth H Fischbeck, M.D.

    National Institute of Neurological Disorders and Stroke (NINDS)

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 29, 2003

First Posted

May 30, 2003

Study Start

May 19, 2003

Study Completion

April 4, 2017

Last Updated

October 6, 2017

Record last verified: 2017-04-04

Locations

US(1)