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

NCT ID NCT03406611

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.
Why investors are watching

Travere Therapeutics is running a phase 1/2 trial of pegtibatinase, an enzyme replacement therapy for classical homocystinuria, a rare genetic condition where current treatments like diet and betaine often fail. For a small company, this readout matters because it tests whether the drug can lower homocysteine levels in patients already on standard care, which would address an unmet need in a niche market. A clear signal of safety and efficacy could validate the company's pipeline beyond its existing products.

If it works: If the trial shows pegtibatinase reduces homocysteine levels with an acceptable safety profile, Travere could advance the drug toward later-stage studies and potentially secure a new revenue source for a rare disease with few options. That result would strengthen the company's position in metabolic disease treatment.

If it fails: The trial could fail to show meaningful homocysteine reduction or produce safety problems, which would set the program back and hurt a small company that depends on pipeline progress. Trials at this stage often fail, so investors should expect uncertainty until data emerges.

AI-written from the trial record. Speculative, and not investment advice.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Phase 1/2

Runs two stages together: safety and dose first, then whether the treatment works.

Participants

About 39 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jan 2019

Expected to finish

Jul 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

5 to 65 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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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

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The study's own enquiry address

    This study publishes an address for enquiries. See it below .

  2. The places running it

    5 sites in 3 countries. The list below names each one and where it is.

  3. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  4. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

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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