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Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified September 2004 by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
Recruitment status was:  Active, not recruiting
Information provided by:
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Identifier:
First received: September 10, 2003
Last updated: June 23, 2005
Last verified: September 2004
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 Intervention Phase
MELAS Syndrome
Drug: Dichloroacetate
Phase 2

Study Type: Interventional
Study Design: Allocation: Randomized
Intervention Model: Crossover Assignment
Masking: Double-Blind
Primary Purpose: Treatment
Official Title: Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial

Resource links provided by NLM:

Further study details as provided by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD):

Estimated Enrollment: 35
Study Start Date: March 2000
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.


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
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Please refer to this study by its identifier: 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 Identifier: NCT00068913     History of Changes
Other Study ID Numbers: P01HD032062 ( US NIH Grant/Contract Award Number )
Study First Received: September 10, 2003
Last Updated: June 23, 2005

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 processed this record on May 25, 2017