Lactic Acidosis
Conditions
Keywords
inborn errors of metabolism, lactic acidosis, rare disease
Brief summary
OBJECTIVES: I. Determine the pharmacokinetics of sodium dichloroacetate (DCA) in patients with congenital lactic acidemia. II. Determine the efficacy of DCA in decreasing the frequency and/or severity of acute episodes of acidotic illness, improving linear growth, improving neurological or developmental function, or slowing neurological or developmental deterioration in these patients.
Detailed description
PROTOCOL OUTLINE: This is a randomized, double blind, cross over study. Patients are randomized to start with one of two different doses of sodium dichloroacetate (DCA). Patients receive one of two doses of oral DCA for 6 months, then switch to the alternate dose for 6 months. This course is repeated once. Patients are followed for up to 2 years. Completion date provided represents the completion date of the grant per OOPD records
Interventions
Sponsors
University of California, San Diego
Study design
Primary purpose
TREATMENT
Eligibility
Sex/Gender
ALL
Age
3 Months to No maximum
Healthy volunteers
No
Inclusion criteria
PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- * Diagnosis of stable, persistent lactic acidemia Venous lactate at least 3 mM under basal conditions defined as: At least 4 hours postprandial No concurrent illness OR * Diagnosis of cerebral lactic acidemia with elevated lactic acid in CSF but not in the blood * No organic acidemias or defective gluconeogenesis --Patient Characteristics-- * Hematopoietic: Hemoglobin at least 7 mg/dL * Hepatic: Bilirubin no greater than 3 times upper limit of normal (ULN) AST, ALT, or GGT no greater than 10 times ULN * Renal: Creatinine no greater than 2 mg/dL * Cardiovascular: Ejection fraction at least 25% * Other: No hypoglycemia (blood sugar less than 50 mg/dL at no greater than 12 hours fasting) No severe peripheral neuropathy interfering with normal activities of living
Countries
United States
Outcome results
None listed