Triheptanoin for MCAD Deficiency

Overseen By Elizabeth McCracken

Age: Any Age

Sex: Any

Trial Phase: Phase 2

Sponsor: Jerry Vockley, MD, PhD

Must not be taking: Antimetabolites

Disqualifiers: Diabetes, Active infection, others

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Prior Safety Data This treatment has passed at least one previous human trial

Compensation: Varies

Number of Visits: 5

Duration: 4 weeks

24 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a medication called triheptanoin to determine its effectiveness for individuals with medium-chain acyl-CoA dehydrogenase deficiency (MCADD), a rare condition affecting fat metabolism. Triheptanoin has already received approval for other similar disorders, and researchers aim to assess its safety and efficacy for MCADD. Individuals diagnosed with MCADD who can manage routine medical activities like blood draws and glucose monitoring may be suitable candidates for this trial. As a Phase 2 trial, the research focuses on evaluating the treatment's effectiveness in an initial, smaller group of participants.

Will I have to stop taking my current medications?

The trial does not specify if you need to stop taking your current medications, but you cannot participate if you are taking antimetabolite drugs like hydroxyurea or methotrexate, as they can interfere with the study's glucose monitoring.

Is there any evidence suggesting that triheptanoin is likely to be safe for humans?

Research shows that the FDA has already approved triheptanoin for treating certain metabolic disorders. This approval indicates its safety in humans, as it has undergone careful review for another use. Studies have generally found triheptanoin to be well-tolerated. Some participants reported side effects like stomach discomfort and diarrhea, but these are uncommon. As this trial is in its early stages, the researchers are still studying its safety. However, the existing approval for another condition suggests that serious problems are unlikely. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising for MCADD?

Triheptanoin is unique because it offers a new approach to managing MCAD deficiency by providing an alternative energy source. While most treatments focus on dietary management and avoiding fasting, triheptanoin delivers specific fatty acids that can be rapidly converted into energy, potentially reducing the risk of severe metabolic crises. Researchers are excited because this could mean more stable energy levels and fewer complications for patients, especially during times of illness or stress.

What evidence suggests that triheptanoin might be an effective treatment for MCADD?

Research suggests that triheptanoin, which participants in this trial will receive, might help treat medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Although triheptanoin is already used for other similar disorders, studies have indicated it could also benefit people with MCADD. In lab tests, triheptanoin improved cellular oxygen use, crucial for energy production. Additionally, similar treatments in the past showed positive effects, suggesting that triheptanoin could be a promising option for MCADD. ^{3 4 6 7 8}

Who Is on the Research Team?

Gerard Vockley

Principal Investigator

UPMC Children's Hospital of Pittsburgh

Are You a Good Fit for This Trial?

This trial is for patients aged 4 and older with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). Specific eligibility criteria are not provided, but typically participants must meet certain health standards and may be excluded based on factors that could impact the study's safety or results.

Inclusion Criteria

Willing and able to adhere to requirements for maintaining continuous glucose monitoring

Able to perform and comply with study activities including placement of a continuous glucose monitor, IV catheter, and all blood draws

Signed informed consent by the subject or parent/guardian of minors

Exclusion Criteria

Use of any investigational drug within 30 days of Screening (Visit 1)

Known hypersensitivity to triheptanoin

I do not have any active infections or other ongoing health issues.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

1 week

1 visit (in-person)

Run-in

Participants undergo training on the use of a continuous glucose monitor and wear it for 10 days

1.5 weeks

1 visit (in-person)

Treatment

Participants receive triheptanoin with dose titration over 28 days

4 weeks

2 visits (in-person)

Follow-up

Participants are monitored for safety and effectiveness after treatment

1 week

1 phone call

What Are the Treatments Tested in This Trial?

Interventions

• Triheptanoin

Trial Overview The study tests triheptanoin, an FDA-approved medication for long chain fatty acid oxidation disorders. It aims to determine its safety and effectiveness in treating MCADD, a condition affecting the body's ability to break down certain fats.

How Is the Trial Designed?

Group I: 1.0 gm/kg/day triheptanoin Experimental Treatment 1 Intervention

Up to 24 subjects (8: 4-9 years of age, 8: 10-15 years of age; 8: 16 years of age or older) will take 1.0 gm/kg/day divided into 3 or 4 doses

Who Is Running the Clinical Trial?

Jerry Vockley, MD, PhD

Lead Sponsor

Trials

6

Recruited

460+

Ultragenyx Pharmaceutical Inc

Industry Sponsor

Trials

94

Recruited

104,000+

Dr. Emil D. Kakkis

Ultragenyx Pharmaceutical Inc

Chief Executive Officer since 2010

MD/PhD in Biological Chemistry from UCLA

Dr. Eric Crombez

Ultragenyx Pharmaceutical Inc

Chief Medical Officer since 2023

MD from Wayne State University School of Medicine

Citations

1. clinicaltrials.gov clinicaltrials.gov/study/NCT07097311

NCT07097311 | Study to Evaluate the Use of Triheptanoin ... Previous research suggests that triheptanoin may also be effective in the treatment MCADD. This study will investigate the safety and efficacy ( ...

2. sciencedirect.com sciencedirect.com/science/article/abs/pii/S1096719223003190

Heptanoic and medium branched-chain fatty acids as ... Triheptanoin (triheptanoylglycerol) has shown value as anaplerotic therapy for patients with long chain fatty acid oxidation disorders but is contraindicated ...

3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC7807521/

Long-term experience with triheptanoin in 12 Austrian ... Triheptanoin data show improvement in disease course. Triheptanoin appears to be a safe and beneficial treatment option in LC-FAOD.

4. rarediseaseadvisor.com rarediseaseadvisor.com/news/a-potential-new-therapy-for-medium-chain-acyl-coa-deficiency/

A Potential New Therapy for Medium-Chain Acyl-CoA ... The results from their study demonstrated that MCFAs and C7 resulted in improvements oxygen-consumption rate parameters in the MCAD deficient ...

5. trialx.com trialx.com/clinical-trials/listings/239423/study-of-triheptanoin-for-the-prevention-of-hypoglycemia-in-patients-with-medium-chain-acyl-coa-dehydrogenase-deficiency-mcadd/

Study of Triheptanoin for the Prevention of Hypoglycemia ... Previous research suggests that triheptanoin may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it ...

6. ncbi.nlm.nih.gov ncbi.nlm.nih.gov/books/NBK1424/

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Untreated severe hypoglycemic episodes can be accompanied by seizures, vomiting, lethargy, coma, and death. Metabolic decompensation during these episodes can ...

7. accessdata.fda.gov accessdata.fda.gov/drugsatfda_docs/nda/2020/213687Orig1s000IntegratedR.pdf

213687Orig1s000 - accessdata.fda.gov triheptanoin treatment in the available safety data. The ... • Diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency,.

8. connect.careboxhealth.com connect.careboxhealth.com/en-US/partner/umdf/trial/479096

Study of Triheptanoin for the Prevention of Hypoglycemia in ... Previous research suggests that triheptanoin may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it ...