Mitochondrial Myopathy
Conditions
Keywords
inborn errors of metabolism, mitochondrial myopathy, rare disease
Brief summary
OBJECTIVES: I. Assess the efficacy of thioctic acid in treating a single patient with mitochondrial myopathy.
Detailed description
PROTOCOL OUTLINE: The patient receives one thioctic acid tablet 3 times a day. If patient experiences no side effects after 1 week, 2 tablets are administered and given 3 times a day over 3 months for compassionate use. The patient is followed at weeks 3, 8, and 12.
Interventions
DRUGthioctic acid
Sponsors
University of Rochester
National Center for Research Resources (NCRR)
Study design
Primary purpose
TREATMENT
Eligibility
Sex/Gender
MALE
Age
0 Years to No maximum
Healthy volunteers
No
Inclusion criteria
PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- * Long standing ophthalmoparesis and fatiguable weakness of the limbs * Mild ataxia and no central nervous system involvement * History of mitochondrial DNA deletion and a measurable biochemical defect of the respiratory chain * Steady deterioration in skeletal muscle mass and power over 5 years --Prior/Concurrent Therapy-- * Previous participation in studies of muscle disease natural history (CRC Protocol 183A)
Outcome results
None listed