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Mapping homocystinuria: how does this rare metabolic disorder unfold over a lifetime?

NCT ID NCT02998710

Knowledge-focused 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 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 This study
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 Results may not be published yet.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This status has not been confirmed recently, so it may be out of date.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 Sep 09, 2026 · Last updated Sep 10, 2026 · Updated 1 time

Summary

Researchers are following 110 people aged 1 to 65 who have homocystinuria caused by a missing or faulty CBS enzyme. The study observes how the condition changes over time under standard care, without testing any new treatment. Participants give blood samples, complete quality-of-life questionnaires, and undergo bone density scans and eye exams. The goal is to understand the disease's typical course so future studies can be better designed.

What this could mean

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

What this could lead to
Detailed knowledge of how homocystinuria progresses could help doctors design better trials and treatments for the condition.
What could go wrong
This is an observational study, so it will not test whether any treatment works. Results depend on patients staying in the study long enough to see meaningful patterns.

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.

Participants

110 people

The number who actually took part.

Started

Jan 2017

Finished

Jul 2026

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.

Who is studied

Clinical site

Ages

1 year 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: * Patients who are clinically diagnosed with homocystinuria * Male/female patients aged 1 to 65 years * Patients who consented and/or assented * Patients who are willing and able to comply with all study-related procedures. Exclusion Criteria: * Medically significant postnatal complications or congenital anomalies that are not associated with homocystinuria * Received any experimental therapy for homocystinuria during the 6 months prior to enrollment or expected to receive any such therapy during duration of 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 due to CBS deficiency

Contacts and locations

Locations

  • Boston Children's Hospital

    Boston, Massachusetts, 02115, United States

  • Children's National Hospital

    Washington D.C., District of Columbia, 20010, United States

  • Emory University Hospital

    Atlanta, Georgia, 30322, United States

  • Hamad Medical Corporation

    Doha, Qatar

  • Indiana University School of Medicine

    Indianapolis, Indiana, 46202, United States

  • Salford Royal NHS Foundation Trust

    Salford, Manchester, M6 8HD, United Kingdom

  • Science 37 - Virtual Site for the US and Canada

    Morrisville, North Carolina, 27560, United States

  • Sidra Medicine

    Doha, Qatar, Qatar

  • Temple Street Children's University Hospital

    Dublin, 1, Ireland

  • The Children's Hospital of Colorado

    Aurora, Colorado, 80045, United States

  • The Children's Hospital of Philadelphia

    Philadelphia, Pennsylvania, 19104, United States