Pegtibatinase for Homocystinuria

Not currently recruiting at 8 trial locations

Overseen By Travere Call Center

Age: Any Age

Sex: Any

Trial Phase: Phase 1 & 2

Sponsor: Travere Therapeutics, Inc.

Must not be taking: Injectable PEG drugs

Disqualifiers: HIV, Hepatitis B/C, Organ transplant, others

Compensation: Varies

Number of Visits: Unknown

Duration: 10 months

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests a new treatment called Pegtibatinase for individuals with homocystinuria, a rare genetic condition characterized by excessive homocysteine (an amino acid) accumulation in the body. Pegtibatinase aims to lower homocysteine levels by introducing an enzyme that is missing or malfunctioning in these patients. The trial will compare Pegtibatinase with a placebo (a substance with no therapeutic effect) to evaluate its effectiveness. Individuals with a confirmed diagnosis of homocystinuria who can maintain a stable diet might be suitable candidates for this study. As a Phase 1, Phase 2 trial, this research focuses on understanding how the treatment works in people and measuring its effectiveness in an initial, smaller group, offering participants a chance to contribute to groundbreaking advancements in treatment.

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 use any investigational products or injectable drugs containing PEG (except for pegtibatinase or COVID-19 vaccines) within 3 months before the study and during participation.

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

Research has shown that pegtibatinase is generally safe for humans. In earlier studies, most participants did not experience serious side effects. Specifically, there were no reports of severe allergic reactions or major unwanted effects. Some individuals did encounter mild side effects, but these were not severe enough to discontinue treatment. Overall, the treatment appears promising for individuals with homocystinuria, as it effectively lowers homocysteine levels, the primary goal. ^{1 2 3 4 5}

Why do researchers think this study treatment might be promising?

Unlike the standard treatments for homocystinuria, which often involve vitamin B6, dietary restrictions, and betaine therapy, Pegtibatinase offers a novel approach. Pegtibatinase is unique because it introduces an enzyme replacement therapy that directly targets the underlying metabolic defect by breaking down the excess homocysteine in the body. Researchers are excited about Pegtibatinase because it has the potential to address the root cause of homocystinuria more effectively, possibly leading to better control of the condition and improved quality of life for patients.

What evidence suggests that Pegtibatinase might be an effective treatment for homocystinuria?

Research has shown that pegtibatinase, which participants in this trial may receive, can significantly lower total homocysteine (tHcy) levels in the body. High homocysteine levels pose a concern for individuals with homocystinuria, making reduction crucial. Studies have found that pegtibatinase is generally well tolerated by patients and effectively lowers tHcy levels. This suggests it could be a viable treatment option for those with classical homocystinuria. The treatment works by introducing a modified version of a human enzyme into the bloodstream, which helps break down homocysteine. Overall, early results are promising for reducing symptoms related to this condition. ^{1 3 4 5 6}

Who Is on the Research Team?

Michael Imperiale, MD

Principal Investigator

Travere Therapeutics, Inc.

Are You a Good Fit for This Trial?

This trial is for individuals with confirmed homocystinuria, evidenced by specific blood test levels. Participants must be able to consent and follow study procedures, including maintaining a stable diet and using contraception if they have childbearing potential. Exclusions include recent use of investigational products, exposure to pegtibatinase, pregnancy or breastfeeding, certain health risks as assessed by the investigator, use of PEG-containing injectables (except some vaccines), and positive tests for HIV or hepatitis.

Inclusion Criteria

I can become pregnant and will take pregnancy tests during the study.

Willing and able to provide written, signed informed consent and to comply with all study related procedures

I am willing to use birth control during and 4 weeks after the study.

Exclusion Criteria

I have had an organ transplant, take immunosuppressants, or have a history of substance abuse.

I haven't used any PEG-containing injectable drugs recently, except for pegtibatinase or COVID-19 vaccines.

I haven't used any experimental drugs or devices in the last 30 days.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive Pegtibatinase or placebo subcutaneously to assess safety, tolerability, pharmacokinetics, and pharmacodynamics

10 months

Follow-up

Participants are monitored for safety and effectiveness after treatment

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Pegtibatinase

Trial Overview The COMPOSE trial is testing Pegtibatinase as an enzyme therapy against a placebo in patients with Homocystinuria caused by Cystathionine Beta-Synthase Deficiency. The aim is to introduce CBS enzyme into circulation to reduce harmful homocysteine levels and improve related symptoms affecting eyes, central nervous system, skeleton, and vascular system.

How Is the Trial Designed?

Group I: Pegtibatinase Active Control 1 Intervention

Group II: Placebo Placebo Group 1 Intervention

Who Is Running the Clinical Trial?

Travere Therapeutics, Inc.

Lead Sponsor

Trials

23

Recruited

103,000+

Orphan Technologies Ltd

Lead Sponsor

Trials

2

Recruited

180+

Citations

1. sciencedirect.com sciencedirect.com/science/article/pii/S1098360025001030

Clinical Trial Safety and efficacy of pegtibatinase enzyme ... Pegtibatinase was generally well tolerated and substantially reduced tHcy levels, demonstrating potential as a treatment for HCU.

2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/40382700/

Safety and efficacy of pegtibatinase enzyme replacement ... Pegtibatinase was generally well tolerated and substantially reduced tHcy levels, demonstrating potential as a treatment for HCU.

3. ir.travere.com ir.travere.com/news-releases/news-release-details/travere-therapeutics-announces-positive-topline-results-cohort-6/

News In this highest dose cohort to date, treatment with pegtibatinase resulted in rapid and sustained reductions in total homocysteine (tHcy), with ...

4. clinicaltrials.gov clinicaltrials.gov/study/NCT06247085

NCT06247085 | A Study to Investigate Efficacy and Safety ... The purpose of this study is to measure efficacy and safety of pegtibatinase treatment compared with placebo in participants with classical HCU receiving ...

5. gimopen.org gimopen.org/article/S2949-7744(24)00035-9/fulltext

Pegtibatinase, an investigational enzyme replacement ... These results demonstrate the potent treatment effect of pegtibatinase on tHcy reduction and support its further development as a novel therapy for HCU.

6. ir.travere.com ir.travere.com/press-releases/news-details/2025/Travere-Therapeutics-Presents-Abstracts-at-the-15th-International-Congress-of-Inborn-Errors-of-Metabolism/default.aspx

Travere Therapeutics Presents Abstracts at the 15th ... Presentation details long-term safety and efficacy data on pegtibatinase as a potential treatment for classical HCU.