Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome

Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) (NIH)

Overall Status

Unknown status

CT.gov ID

NCT00068913

Collaborator

(none)

Enrollment

Location

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
MELAS Syndrome	Drug: Dichloroacetate	Phase 2

Detailed 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.

Study Design

Study Type:

Interventional

Allocation:

Randomized

Intervention Model:

Crossover Assignment

Masking:

Double

Primary Purpose:

Treatment

Official Title:

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

Study Start Date :

Mar 1, 2000

Outcome Measures

Primary Outcome Measures

Eligibility Criteria

Criteria

Ages Eligible for Study:

6 Years and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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