- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT06340685
Triheptanoin for Children With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin as Treatment for Patients With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
Study Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Participation in the study will require the patient to participate in up to 10 visits over a two-year period. Five of those visits must be done at the UPMC Children's Hospital of Pittsburgh (CHP). Other visits can take place at CHP or remotely. All of these visits will include blood draws.
Triheptanoin will be added to the patients' diet and administered at least 4 times per day. The target dose will be 1.2-3.9 g of triheptanoin per kg body weight with a max goal dose of about 4 g/kg per day.
The triheptanoin will be provided to the patients at no cost. All other costs will be billed to the patients' insurance.
Study Type
Enrollment (Estimated)
Phase
- Phase 1
Contacts and Locations
Study Contact
- Name: Danielle Black, MPH
- Phone Number: 412-692-6893
- Email: danielle.black@chp.edu
Study Locations
-
-
Pennsylvania
-
Pittsburgh, Pennsylvania, United States, 15224
- Recruiting
- UPMC Children's Hospital of Pittsburgh
-
Contact:
- Danielle Black, MPH
- Phone Number: 412-692-6893
- Email: danielle.black@chp.edu
-
Principal Investigator:
- Jirair Bedoyan, MD, PhD
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
Accepts Healthy Volunteers
Description
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).
- Negative pregnancy test for all female patients of childbearing age. Individuals of childbearing potential must agree to use a highly effective method of contraception, and males must agree not to father a child or donate sperm. True abstinence for the duration of the study will also be accepted.
- Subjects are following some form or type of ketogenic diet at the time of the screening visit.
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
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
Experimental: Triheptanoin
Open label study
|
Open-label design with doses of triheptanoin up to 4.0 gm/kg triheptanoin
Other Names:
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Number of participants who report side-effects related to gastrointestinal (GI) distress
Time Frame: 24 months
|
24 months
|
|
Normalization of biochemical markers of disease (lactate)
Time Frame: 24 months
|
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
|
24 months
|
Normalization of biochemical markers of disease (pyruvate)
Time Frame: 24 months
|
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
|
24 months
|
Normalization of biochemical markers of disease (β-hydroxybutyrate level)
Time Frame: 24 months
|
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
|
24 months
|
Normalization of biochemical markers of disease (Alanine/Leucine ratio)
Time Frame: 24 months
|
Change in Alanine/Leucine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
|
24 months
|
Normalization of biochemical markers of disease (Alanine/Lysine ratio)
Time Frame: 24 months
|
Change in Alanine/Lysine ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
|
24 months
|
Normalization of biochemical markers of disease (Alanine/Proline ratio)
Time Frame: 24 months
|
Change in Alanine/Proline ratios, comparing results from before and after triheptanoin is initiated - this will be measured by the number of participants who experience any change; measured in μmol/L
|
24 months
|
More efficacious seizure control
Time Frame: 24 months
|
Measured by a reduction or alteration of home antiepileptics use, from before and after triheptanoin is initiated
|
24 months
|
More efficacious metabolic control
Time Frame: 24 months
|
Measured by a reduction in episodes of metabolic decompensation, from before and after triheptanoin is initiated
|
24 months
|
More efficacious disease control
Time Frame: 24 months
|
Measured by a reduction in the frequency of disease related hospitalizations, from before and after triheptanoin is initiated
|
24 months
|
Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Improved quality of life
Time Frame: 24 months
|
Measured by a change in scores on the PedsQL, from before and after trihepatnoin is initiated
|
24 months
|
Improved long-term maintenance and tolerance of diet
Time Frame: 24 months
|
Measured by parental report of diet maintenance and tolerance, from before and after triheptanoin is initiated
|
24 months
|
Improved quality of life
Time Frame: 24 months
|
Measured by a change in scores on the MetabQoL, from before and after trihepatnoin is initiated
|
24 months
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Jirair Bedoyan, MD, PhD, UPMC Children's Hospital of Pittsburgh
Study record dates
Study Major Dates
Study Start (Estimated)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Metabolic Diseases
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Carbohydrate Metabolism, Inborn Errors
- Metabolism, Inborn Errors
- Mental Retardation, X-Linked
- Intellectual Disability
- Heredodegenerative Disorders, Nervous System
- Brain Diseases, Metabolic
- Mitochondrial Diseases
- Brain Diseases, Metabolic, Inborn
- Pyruvate Metabolism, Inborn Errors
- Pyruvate Dehydrogenase Complex Deficiency Disease
Other Study ID Numbers
- STUDY23050042
- UX007-IST236 (Other Grant/Funding Number: Ultragenyx Pharmaceutical Inc.)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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