Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome

MELAS Syndrome Clinical Trial

Official title:

Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT00068913
• Other study ID #: P01HD032062
• Status: Active, not recruiting
• Phase: Phase 2
• First received: September 10, 2003
• Last updated: June 23, 2005
• Start date: March 2000

Study information

• Verified date: September 2004
• Source: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Food and Drug Administration
• Study type: Interventional

Clinical Trial Summary

Patients with the MELAS syndrome experience devastating mental impairment. This study will evaluate the effectiveness of the drug dichloroacetate (DCA) to reduce the symptoms of MELAS.

Description:

Although many organ systems are affected by mitochondrial (mt) DNA point mutations, the nervous system is particularly vulnerable. Maternally inherited mtDNA point mutations may cause chronic progressive encephalopathies and mental retardation. Patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome have the A3243G point mutation and elevated brain lactate levels. Research has shown that lactic acidosis is associated with progressive impairment in patients with MELAS. This study will evaluate the effectiveness of DCA in lowering lactate levels and slowing the progression of MELAS.

Patients with the A3243G mitochondrial mutation and who have had either a stroke or a seizure will be enrolled in this study. Patients will be randomized to receive either DCA or a placebo. At a predetermined time point, patients receiving DCA will be switched to placebo and patients receiving placebo will be switched to DCA. Patients will have study visits every 3 months for 3 years. Study visits will include neurological exams, cognitive testing, nerve conduction tests, and MRIs. Study medicine, testing, hospitalization for research purposes, and travel expenses will be fully covered by the study.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 35
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 6 Years and older

Eligibility

Inclusion Criteria

• A3243G mtDNA point mutation or maternally related to someone who has the mutation

• Symptomatic with MELAS, including previous seizure or stroke

• Certain laboratory values

• Ability to comply with the study protocol

Study Design

Allocation: Randomized, Endpoint Classification: Safety/Efficacy Study, Intervention Model: Crossover Assignment, Masking: Double-Blind, Primary Purpose: Treatment

Related Conditions & MeSH terms

• MELAS Syndrome
• Syndrome

Intervention

Drug:
• Dichloroacetate

Locations

Country	Name	City	State
United States	New York Presbyterian Hospital	New York City	New York

Sponsors (1)

Lead Sponsor	Collaborator
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Country where clinical trial is conducted

United States,