Measuring Levels of SMN in Blood Samples of SMA Patients

Status Completed

Clinical Trial 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.

Clinical Trial 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. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT00061607
Study type	Observational
Source	National Institutes of Health Clinical Center (CC)
Contact
Status	Completed
Phase	N/A
Start date	May 19, 2003
Completion date	April 4, 2017

View Details

See also
Status	Clinical Trial	Phase
Completed	`NCT04851873` - Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA)	Phase 3
Completed	`NCT03223051` - Development of a Space Exploration Assessment for Children With Spinal Muscular Atrophy	N/A
Completed	`NCT04335942` - Characterization of the Postural Habits of Wheelchair Users Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor	N/A
Recruiting	`NCT05794139` - Safety and Efficacy of NMD670 in Ambulatory Adult Patients With Type 3 Spinal Muscular Atrophy	Phase 2
Not yet recruiting	`NCT06300996` - Spinal Cord Stimulation for the Treatment of Motor Deficits in People With Spinal Muscular Atrophy - Upper Limb	N/A
Completed	`NCT02003937` - Aerobic Training in Patients With Spinal Muscular Atrophy Type III	N/A
Not yet recruiting	`NCT00961103` - Motor Development and Orthoses in Spinal Muscular Atrophy (SMA)	N/A
Completed	`NCT00227266` - Valproic Acid and Carnitine in Patients With Spinal Muscular Atrophy	Phase 2
Completed	`NCT00374075` - Study of Safety and Dosing Effect on SMN Levels of Valproic Acid (VPA) in Patients With Spinal Muscular Atrophy	Phase 1
Enrolling by invitation	`NCT05539456` - Reliability and Validity of the Turkish Version of the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old
Recruiting	`NCT05779956` - Personalized Medicine for SMA: a Translational Project
Recruiting	`NCT03300869` - Natural History of Types 2 and 3 SMA in Taiwan
Recruiting	`NCT03217578` - Neonatal Spinal Muscular Atrophy (SMA) Screening
Completed	`NCT01703988` - An Open-label Safety, Tolerability and Dose-Range Finding Study of Multiple Doses of Nusinersen (ISIS 396443) in Participants With Spinal Muscular Atrophy	Phase 1/Phase 2
Withdrawn	`NCT02235090` - Study of Feasibility to Reliably Measure Functional Abilities' Changes in Nonambulant Neuromuscular Patients Without Trial Site Visiting	N/A
Completed	`NCT02123186` - Newborn Screening for Spinal Muscular Atrophy	N/A
Completed	`NCT00756821` - A Pilot Study of Biomarkers for Spinal Muscular Atrophy	N/A
Completed	`NCT00004771` - Phase II Study of Leuprolide and Testosterone for Men With Kennedy's Disease or Other Motor Neuron Disease	Phase 2
Recruiting	`NCT05366465` - Quality of Life and Participation of the Adult With Spinal Muscular Atrophy in France
Recruiting	`NCT06310421` - Spinal Muscular Atrophy Neonatal Screening Program

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.