Can a Lab-Made enzyme tame a rare genetic disorder?

NCT ID NCT03406611

Recruiting now Disease control Sponsor: Travere Therapeutics, Inc. Source: ClinicalTrials.gov ↗

First seen Aug 10, 2026 · Last updated Aug 11, 2026 · Updated 1 time

Summary

This trial tests whether pegtibatinase, a lab-made version of the CBS enzyme, can safely lower homocysteine levels in people with classical homocystinuria (HCU), a rare genetic condition that causes harmful buildup of homocysteine and methionine. The study includes children and adults with HCU who are already on standard treatments like a low-protein diet or betaine. Participants receive pegtibatinase or a placebo as a subcutaneous injection, and researchers monitor safety, drug levels, and changes in homocysteine and methionine.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance: Pegtibatinase (TVT-058), an enzyme replacement therapy given as a subcutaneous injection
What this could lead to: If it works, this could offer a new treatment option for people with classical homocystinuria, potentially reducing their risk of vision, bone, blood vessel, and cognitive problems.
What could go wrong: This is an early-phase trial with a small number of participants, so the treatment may not prove effective or safe. Possible side effects include reactions at the injection site and changes in methionine levels.

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Conditions

The condition(s) this trial relates to.

classic homocystinuria homocystinuria

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

HOMOCYSTINURIA

Contacts and locations

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Study contacts

Contact

Email: •••••@•••••

Locations

Ann & Robert H. Lurie Children's Hospital of Chicago
NOT_YET_RECRUITING

Chicago, Illinois, 60611, United States
Hospital Necker-Enfants Malades, Neurologie Pediatrique
NOT_YET_RECRUITING

Paris, 75015, France
Science 37 - Virtual Site
RECRUITING

Morrisville, North Carolina, 27560, United States
Sidra Medicine
NOT_YET_RECRUITING

Doha, Qatar
The Mount Sinai Hospital
NOT_YET_RECRUITING

New York, New York, 10029, United States
Travere Investigational Site
COMPLETED

Aurora, Colorado, 80045, United States
Travere Investigational Site
COMPLETED

Miami, Florida, 33136, United States
Travere Investigational Site
COMPLETED

Indianapolis, Indiana, 46202, United States
Travere Investigational Site
COMPLETED

Portland, Maine, 04102, United States
Travere Investigational Site
COMPLETED

Boston, Massachusetts, 02115, United States
Travere Investigational Site
COMPLETED

New York, New York, 10029, United States
Travere Investigational Site
COMPLETED

Philadelphia, Pennsylvania, 19104, United States

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