RecruitingPhase 1

Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency

United States6 participantsStarted 2024-07-11

Plain-language summary

This is a medical research study to test a medication in patients with a disease called Pyruvate Dehydrogenase Complex (PDC) Deficiency. The medication is triheptanoin, which is currently FDA approved for the treatment of Long-Chain Fatty Acid Oxidation Disorders. Previous research suggests that triheptanoin may also be effective in the treatment PDC Deficiency. This study will investigate the safety and efficacy (how well it works) of triheptanoin in patients with PDC Deficiency.

Who can participate

Age range1 Year – 17 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Age 1 year to \<18 years of age
✓. Subjects with PDCD would need to have a metabolic physician following their clinical care needs prior to their enrollment in the study
✓. Diagnosis of PDCD by molecular genetic confirmation of PDHA1, PDHB, DLAT, PDHX, or PDP1 mutation
✓. Not pregnant or lactating
✓. Parental permission and assent of minor and willingness to comply with study procedures
✓. Not participating in any interventional treatment clinical trials
✓. Not a recipient of gene therapy, organ transplant, or bone-marrow transplantation
✓. If currently on any investigational drugs or therapies, must complete a 30-day washout period prior to Intake \& Dosing (Day 1).

Exclusion criteria

✕. Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD)
✕. Use of alcohol or drugs of abuse
✕. Evidence of liver disease as defined by elevations of AST or ALT \>2x ULN in the past 6 months
✕. Pregnant, breastfeeding, or lactating females
✕. On any investigational product research study (and not completed the required 30-day washout period prior to Intake \& Dosing) or recipient of gene therapy or organ or bone-marrow transplantation

What they're measuring

Number of participants who report side-effects related to gastrointestinal (GI) distress

Timeframe: 24 months

Normalization of biochemical markers of disease (lactate)

Timeframe: 24 months

Normalization of biochemical markers of disease (pyruvate)

Timeframe: 24 months

Normalization of biochemical markers of disease (β-hydroxybutyrate level)

Timeframe: 24 months

Normalization of biochemical markers of disease (Alanine/Leucine ratio)

Timeframe: 24 months

Normalization of biochemical markers of disease (Alanine/Lysine ratio)

Timeframe: 24 months

Normalization of biochemical markers of disease (Alanine/Proline ratio)

Timeframe: 24 months

More efficacious seizure control

Timeframe: 24 months

Trial details

NCT IDNCT06340685

SponsorJirair Krikor Bedoyan

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2028-12-31

Contact for this trial

Angela Riemenschneider

412-692-5232 angela.riemenschneider@chp.edu

View on ClinicalTrials.gov More Pyruvate Dehydrogenase Complex Deficiency trials

Plain-language summary

Who can participate

Age range1 Year – 17 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Age 1 year to \<18 years of age
✓. Subjects with PDCD would need to have a metabolic physician following their clinical care needs prior to their enrollment in the study
✓. Diagnosis of PDCD by molecular genetic confirmation of PDHA1, PDHB, DLAT, PDHX, or PDP1 mutation
✓. Not pregnant or lactating
✓. Parental permission and assent of minor and willingness to comply with study procedures
✓. Not participating in any interventional treatment clinical trials
✓. Not a recipient of gene therapy, organ transplant, or bone-marrow transplantation
✓. If currently on any investigational drugs or therapies, must complete a 30-day washout period prior to Intake \& Dosing (Day 1).

Exclusion criteria

✕. Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD)
✕. Use of alcohol or drugs of abuse
✕. Evidence of liver disease as defined by elevations of AST or ALT \>2x ULN in the past 6 months
✕. Pregnant, breastfeeding, or lactating females
✕. On any investigational product research study (and not completed the required 30-day washout period prior to Intake \& Dosing) or recipient of gene therapy or organ or bone-marrow transplantation

What they're measuring

Number of participants who report side-effects related to gastrointestinal (GI) distress

Timeframe: 24 months

Normalization of biochemical markers of disease (lactate)

Timeframe: 24 months

Normalization of biochemical markers of disease (pyruvate)

Timeframe: 24 months

Normalization of biochemical markers of disease (β-hydroxybutyrate level)

Timeframe: 24 months

Normalization of biochemical markers of disease (Alanine/Leucine ratio)

Timeframe: 24 months

Normalization of biochemical markers of disease (Alanine/Lysine ratio)

Timeframe: 24 months

Normalization of biochemical markers of disease (Alanine/Proline ratio)

Timeframe: 24 months

More efficacious seizure control

Timeframe: 24 months