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Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome

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ClinicalTrials.gov Identifier: NCT00068913
Recruitment Status : Unknown
Verified September 2004 by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
Recruitment status was:  Active, not recruiting
First Posted : September 11, 2003
Last Update Posted : June 24, 2005
Information provided by:

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  (Clinical Trial)
Estimated Enrollment : 35 participants
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 : March 2000

Arms and Interventions

Outcome Measures

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00068913

United States, New York
New York Presbyterian Hospital
New York City, New York, United States, 10032
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Principal Investigator: Darryl C De Vivo, MD Columbia University
More Information

ClinicalTrials.gov Identifier: NCT00068913     History of Changes
Other Study ID Numbers: P01HD032062 ( U.S. NIH Grant/Contract )
First Posted: September 11, 2003    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: September 2004

Keywords provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):
Lactic Acidosis
Mitochondrial Disorder

Additional relevant MeSH terms:
Mitochondrial Encephalomyopathies
Mitochondrial Myopathies
Muscular Diseases
Mitochondrial Diseases
MELAS Syndrome
Pathologic Processes
Musculoskeletal Diseases
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Neuromuscular Diseases
Vascular Diseases
Cardiovascular Diseases
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases