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
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
PROTOCOL ENTRY CRITERIA:
- 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
- Diagnosis of cerebral lactic acidemia with elevated lactic acid in CSF but not in the
- No organic acidemias or defective gluconeogenesis
- 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