Expanded Access Treatment Protocol With DCA for Patients With PDCD

NCT06931262 | Unknown

• 1 other identifier: SL 1009 EA-01
• Study Type: expanded_access
• Target: N/A
• Locations: 0 countries
• Sites: N/A

Brief Summary

Expanded Access (EA) will provide a transition to continue therapy for those patients who are currently in the open label extension of the Phase III study, SL 1009-01, while also allowing new patients diagnosed with PDCD who meet the eligibility criteria to also have access to therapy that would be otherwise unavailable.

Conditions

Pyruvate Dehydrogenase Complex Deficiency

Keywords

PDCD

Interventions

Dichloroacetate (DCA) DRUG

Study medication DCA is an oral solution mixed with an artificial sweetener containing aspartame and strawberry extract (50mg/mL) Participants will be genotyped to determine GSTZ1 (glutathione S-transferase Zeta-1) haplotype status, which will stratify this group into 1 of 2 dose regimens: EGT carriers will receive 12 mg/kg/12hr DCA. EGT non-carriers will receive 6 mg/kg/12 hr DCA.

Eligibility Criteria

• Age: 0 Years - 17 Years
• Sex: all
• Age Groups: Child (0-17)

You may qualify if:

• Ages 0 through adulthood
• Presence of characteristic clinical or metabolic features of PDCD and
• Presence of a known pathogenic mutation of a gene that is specifically associated with PDC (PDHA1, PDHB, DLAT, PDHX, DLD).
• Females of reproductive age must be willing to use an effective method of barrier contraception for the duration of the study.-

You may not qualify if:

• Primary, defined organic acidurias other than lactic acidosis (e.g., propionic aciduria)
• Primary disorders of amino acid metabolism
• Primary disorders of fatty acid oxidation
• Secondary lactic acidosis due to impaired oxygenation or circulation (e.g., due to severe cardiomyopathy or congenital heart defects)
• Malabsorption syndromes associated with D-lactic acidosis
• Renal insufficiency, defined as 1) a requirement for chronic dialysis or 2) serum creatinine ≥ 1.2 mg/dl or creatinine clearance \<60 ml/min
• Primary hepatic disease unrelated to PDCD
• Pregnancy or breast feeding -

Sponsors & Collaborators

• Saol Therapeutics Inc: lead
• AnovoRx: collaborator

MeSH Terms

Conditions

Pyruvate Dehydrogenase Complex Deficiency Disease

Interventions

Dichloroacetic Acid

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Pyruvate Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Mitochondrial Diseases

Intervention Hierarchy (Ancestors)

Chloroacetates; Acetates; Acids, Acyclic; Carboxylic Acids; Organic Chemicals; Hydrocarbons, Chlorinated; Hydrocarbons, Halogenated; Hydrocarbons

Study Officials

• Kiki Diorgu, M.D.

  Saol Therapeutics Inc

  STUDY CHAIR

Central Study Contacts

Kyle Ashton, Ph.D.

CONTACT

770-274-2500; eap@saolrx.com

Study Design

• Study Type: expanded access
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 1, 2025
• First Posted: April 17, 2025
• Last Updated: May 8, 2025

Record last verified: 2025-05