Pyruvate Dehydrogenase Complex Deficiency Clinical Trial
Official title:
An Open Label, Exploratory, Proof-of Concept Study of Triheptanoin as Treatment for Patients With Primary-Specific Pyruvate Dehydrogenase Complex (PDC) Deficiency
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.
Status | Recruiting |
Enrollment | 6 |
Est. completion date | June 30, 2027 |
Est. primary completion date | December 31, 2026 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 1 Year to 17 Years |
Eligibility | Inclusion Criteria: 1. Age 1 year to <18 years of age 2. Subjects with PDCD would need to have a metabolic physician following their clinical care needs prior to their enrollment in the study 3. Diagnosis of PDCD by molecular genetic confirmation of PDHA1, PDHB, DLAT, PDHX, or PDP1 mutation 4. Not pregnant or lactating 5. Parental permission and assent of minor and willingness to comply with study procedures 6. Not participating in any interventional treatment clinical trials 7. Not a recipient of gene therapy, organ transplant, or bone-marrow transplantation 8. If currently on any investigational drugs or therapies, must complete a 30-day washout period prior to Intake & Dosing (Day 1). 9. 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. 10. Subjects are following some form or type of ketogenic diet at the time of the screening visit. Exclusion Criteria: 1. Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) 2. Use of alcohol or drugs of abuse 3. Evidence of liver disease as defined by elevations of AST or ALT >2x ULN in the past 6 months 4. Pregnant, breastfeeding, or lactating females 5. 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 |
Country | Name | City | State |
---|---|---|---|
United States | UPMC Children's Hospital of Pittsburgh | Pittsburgh | Pennsylvania |
Lead Sponsor | Collaborator |
---|---|
Jirair Krikor Bedoyan | Ultragenyx Pharmaceutical Inc |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Number of participants who report side-effects related to gastrointestinal (GI) distress | 24 months | ||
Primary | 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 | 24 months | |
Primary | 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 | 24 months | |
Primary | Normalization of biochemical markers of disease (ß-hydroxybutyrate level) | Change in ß-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 | |
Primary | Normalization of biochemical markers of disease (Alanine/Leucine ratio) | 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 | |
Primary | Normalization of biochemical markers of disease (Alanine/Lysine ratio) | 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 | |
Primary | Normalization of biochemical markers of disease (Alanine/Proline ratio) | 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 | |
Primary | More efficacious seizure control | Measured by a reduction or alteration of home antiepileptics use, from before and after triheptanoin is initiated | 24 months | |
Primary | More efficacious metabolic control | Measured by a reduction in episodes of metabolic decompensation, from before and after triheptanoin is initiated | 24 months | |
Primary | More efficacious disease control | Measured by a reduction in the frequency of disease related hospitalizations, from before and after triheptanoin is initiated | 24 months | |
Secondary | Improved quality of life | Measured by a change in scores on the PedsQL, from before and after trihepatnoin is initiated | 24 months | |
Secondary | Improved long-term maintenance and tolerance of diet | Measured by parental report of diet maintenance and tolerance, from before and after triheptanoin is initiated | 24 months | |
Secondary | Improved quality of life | Measured by a change in scores on the MetabQoL, from before and after trihepatnoin is initiated | 24 months |
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