Evaluation of the Muscle Strength and Motor Ability in Children With Spinal Muscle Atrophy(SMA) Treated With Valproic Acid

University of Sao Paulo General Hospital

Status: Completed

Conditions: Spinal Muscular Atrophy

Study type: Observational

Funder types: Other

Identifiers

NCT01033331

CAPES9030 (Other Grant/Funding Number)

290/06

Details and patient eligibility

About

The purpose of this study is to determine if the treatment with valproic acid can increase the muscle strength and motor ability of children with spinal muscular atrophy.

Full description

Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects the motoneurons of the spinal anterior corn, resulting in hypotonia and muscle weakness. The knowledge about its molecular mechanism has led to clinical tests with drugs that increase survival motor neuron (SMN) protein level. The valproic acid (VA) that acts as a histone deacetylase inhibitor activates the SMN2 gene increasing the protein level. Methods: Twenty-two patients with type II and III SMA, aged between 2 and 18 years old, were treated with VA and were evaluated five times along a period of one year using the Manual Muscle Test (Medical Research Council scale-MRC), the Hammersmith Motor Ability Score, and the Barthel Index. The first evaluation was coincident with the introduction of VA. Results: After 12 months of therapy, the patients did not gain muscle strength but their motor ability has improved. Children younger than 6 years of age had a higher pronounced gain in motor ability. Conclusion: treatment of SMA patients with VA is one alternative to alleviate the progression of the disease.

Enrollment: 22 patients

Sex: All

Ages: 2 to 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Regularly attended at the Out-patient Service of Neuromuscular Disorders and Child Neurology of our Institution;
• More than 2 years olf and had a molecular analysis of Spinal Muscular Atrophy;

Exclusion criteria

• Had been submitted into a surgery recently;
• Did not come to the evaluation and medical sessions:
• Did not take the medication correctly