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

ConditionPyruvate Dehydrogenase Complex Deficiency
Trial statusRecruiting
Trial phasePhase 1
Trial typeInterventional
Biological sexAll
Age1-17
SponsorJirair Krikor Bedoyan

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

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

Trial design

Design model

Single group

Treatments tested in this trial

  • Triheptanoin

    Drug

    Open-label design with doses of triheptanoin up to 4.0 gm/kg triheptanoin

Treatment groups

6 Participants
are divided into 1 treatment group
Group A: TriheptanoinExperimental treatment 1 intervention

Trial outcomes

Primary outcomes

1

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

Time frame
24 months
2

Normalization of biochemical markers of disease (lactate)

Change in lactate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol/L

Time frame
24 months
3

Normalization of biochemical markers of disease (pyruvate)

Change in pyruvate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mg/dl

Time frame
24 months
4

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

Change in β-hydroxybutyrate levels, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in mmol/L

Time frame
24 months

Secondary outcomes

1

Improved quality of life

Measured by a change in scores on the PedsQL, from before and after trihepatnoin is initiated

Time frame
24 months
2

Improved long-term maintenance and tolerance of diet

Measured by parental report of diet maintenance and tolerance, from before and after triheptanoin is initiated

Time frame
24 months
3

Improved quality of life

Measured by a change in scores on the MetabQoL, from before and after trihepatnoin is initiated

Time frame
24 months

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Jirair Krikor Bedoyan

Lead sponsor

University of Pittsburgh

Sponsor institution

Ultragenyx Pharmaceutical Inc

Collaborator

Source ClinicalTrials.gov
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