Pegtibatinase for Classical Homocystinuria

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This interventional study tests pegtibatinase, with a placebo control, across multiple cohorts from adults to children with CBS-deficient homocystinuria. Primary goals are to evaluate safety and tolerability, including how the drug affects lab tests, heart rhythm, and immune responses. Secondary goals examine pharmacokinetics, effects on homocysteine and related metabolites, and impact on eyes, bones, mental health, and cognition. Cohort 7 expands enrollment to children aged 5 to 11 to assess safety and antibody responses in the pediatric population. The trial uses standard-of-care management alongside the study treatment and includes specified eligibility criteria and multiple investigational sites.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Age

  * Cohort 7 (currently enrolling): ≥5 to \<12 years of age.
  * Completed Cohorts 1-6: ≥12 to 65 years of age.
* Diagnosis of classical homocystinuria (HCU)

  * Cohort 7 (currently enrolling): Diagnosis based on clinical, biochemical, and/or molecular genetic testing.
  * Completed Cohorts 1-6: Genetically confirmed cystathionine beta-synthase (CBS)-deficient HCU.
* Plasma total homocysteine (tHcy)

  * Cohort 7 (currently enrolling): Plasma tHcy ≥50 μM at Screening.
  * Completed Cohorts 1-6: Plasma tHcy ≥50 μM at Screening and documented historical plasma tHcy ≥80 μM.
* Willing and able (or parent/legal guardian willing and able) to provide informed consent/assent and comply with study procedures.
* Willing to maintain a generally stable standard-of-care treatment regimen, including dietary management and HCU-related therapies, unless changes are medically necessary.
* Participants of childbearing potential must have a negative pregnancy test before study treatment and agree to use protocol-specified contraception, if applicable.

Exclusion Criteria:

Cohort 7 only:

* Diagnosis of Marfan syndrome, methylenetetrahydrofolate reductase (MTHFR) deficiency, or a disorder of cobalamin metabolism.
* History of a major thrombotic event within the previous 6 months.
* Body weight \<15 kg.

All Cohorts:

* Previous treatment with pegtibatinase or pegtarviliase)
* Participation in a pegtibatinase clinical study.
* Receipt of another investigational drug or investigational medical device within 30 days before Screening or planned use during study participation.
* Use of injectable polyethylene glycol (PEG)-containing medications (other than pegtibatinase or PEG-containing vaccines) within 3 months before Screening or during study participation.
* Known hypersensitivity to pegtibatinase or a history of severe hypersensitivity to a PEG-containing product.
* Active HIV, hepatitis B, or hepatitis C infection.
* History of organ transplantation or immunosuppressive therapy.
* Clinically significant medical conditions that could interfere with study participation or participant safety.
* Pregnant or breastfeeding, or planning to become pregnant during study participation.
* Major surgery planned during the study period.
* Any condition that could prevent the participant from complying with study procedures or completing the study.

Where it's running

• Science 37 - Virtual Site
  Morrisville, North Carolina, United States Recruiting
• Travere Investigational Site
  Aurora, Colorado, United States Completed
• Travere Investigational Site
  Miami, Florida, United States Completed
• Ann & Robert H. Lurie Children's Hospital of Chicago
  Chicago, Illinois, United States Not yet recruiting
• Travere Investigational Site
  Indianapolis, Indiana, United States Completed
• Travere Investigational Site
  Portland, Maine, United States Completed

Study contacts

• Study coordinator: Travere Call Center
• Email: medinfo@travere.com
• Phone: 1-877-659-5518

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Assessing Quality of Life in Patients with Classical Homocystinuria

  This study is trying to understand how classical homocystinuria affects the daily lives of patients and their families by talking to them and creating a questionnaire to measure their quality of life.

  Recruiting University Children's Hospital, Zurich · Zurich · NCT06556615

• Pegtibatinase versus placebo for people 12–65 with classical CBS‑deficient homocystinuria on standard care

  This trial tests whether pegtibatinase is safe and can lower homocysteine levels in people aged 12–65 with classical homocystinuria who are already receiving standard treatment.

  Recruiting at 37 sites Phase 3 Travere Therapeutics, Inc. · Phoenix, Arizona and 51 other locations · NCT06247085

• Treatment of pediatric kidney diseases with Sparsentan

  This study is testing if a new oral medication called Sparsentan can help children aged 1 to 18 with certain kidney diseases feel better and improve their condition over two years.

  Recruiting at 38 sites Phase 2 Travere Therapeutics, Inc. · Los Angeles, California and 46 other locations · NCT05003986

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.