Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:

• Status: Recruiting
• Trial end date: 2023-05-31
• Target enrollment: 0
• Participant gender: All

Summary

The objective of this research study is to conduct a pivotal phase 3 trial of treatment with the investigational drug dichloroacetate (DCA) in young children with deficiency of the pyruvate dehydrogenase complex (PDC). PDC deficiency (PDCD) is the most common cause of congenital lactic acidosis and is a frequently fatal metabolic disease of childhood for which no proven treatment exists. The investigators predict that DCA represents targeted potential therapy for PDCD because of its ability to increase both the catalytic activity and stability of the enzyme complex. The conclusions of numerous laboratory and clinical investigations are consistent with this postulate and have led to the designation of DCA as an Orphan Product for congenital lactic acidosis by the Food and Drug Administration.

A novel Observer reported outcome (ObsRO) survey that is completed by study participant's parent/caregiver, is the efficacy outcome measure.

Funding Source - FDA OOPD

• Phase: Phase 3
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University of Florida
• Collaborators: Columbia University; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); International Pyruvate Dehydrogenase Complex Deficiency Organization; Medosome Biotec LLC; Saol Therapeutics

Criteria

Inclusion Criteria:

• Age 6 m through 17 y

• Presence of characteristic clinical or metabolic features of pyruvate dehydrogenase complex deficiency (PDCD) and

• Presence of a known pathogenic mutation of a gene that is specifically associated with PDCD.

Exclusion Criteria:

A genetic mitochondrial disease other than those stipulated under inclusion criteria Primary disorders of amino acid metabolism; primary disorders of fatty acid oxidation Secondary lactic acidosis due to impaired oxygenation or circulation (cardiomyopathy or congenital heart defect) Renal insufficiency (defined as: requires chronic dialysis or serum creatinine ≥ 1.2 mg/dl; creatinine clearance <60 ml/min Primary hepatic disease unrelated to PDCD Pregnancy or breast feeding