Recruiting

Observational Study

Sponsor:

Travere Therapeutics, Inc.

Code:

NCT02998710

Conditions

Homocystinuria Due to CBS Deficiency

Eligibility Criteria

Sex: All

Age: 1 - 65

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The purpose of the study is to characterize the clinical course of homocystinuria in pediatric and adult patients aged 1 to 65 years under current clinical management practices

Conditions

Homocystinuria Due to CBS Deficiency

Study ID

NCT02998710

Start date

Jan, 2017

Status verified date

Nov, 2024

Completion date

Aug, 2026

Anticipated

Primary completion date

Apr, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 1 - 65

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

150 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Changes in Met cycle metabolites levels - tHcy [ Time Frame: 6.5 years ]
  • Changes in Met cycle metabolites levels - total Cys [ Time Frame: 6.5 years ]
  • Changes in Met cycle metabolites levels - Met [ Time Frame: 6.5 years ]
  • Changes in Met cycle metabolites levels - Cth [ Time Frame: 6.5 years ]
  • Patient Reported Outcome (PRO): Quality of Life in Neurological Disorders [Neuro-QoL] [ Time Frame: 6.5 years ]
  • Patient Reported Outcome (PRO): Quality of Life by 36-Item Short Form Survey [SF-36] [ Time Frame: 6.5 years ]
  • National Institutes of Health (NIH) Toolbox Cognition Battery [ Time Frame: 6.5 years ]
  • EuroQol EQ-5D™ questionnaire to measure health and quality-of-life [ Time Frame: 6.5 years ]
  • Dual-Energy X-Ray Absorptiometry to measure bone mineral density [ Time Frame: 6.5 years ]
  • Eye assessments to evaluate ocular health: Visual acuity examination will be performed to determine the clarity or sharpness of vision [ Time Frame: 6.5 years ]
  • Eye assessments to evaluate ocular health: Slit lamp eye examination will be performed to look for any diseases or abnormalities in the anterior portion of the eye [ Time Frame: 6.5 years ]

Central Contacts and Locations

Central contacts

Travere Call Center

1-877-659-5518medinfo@travere.com

Locations

Travere Investigational Site (Enrolling 1 to <5 Year-olds Only)

Recruiting

Aurora, Colorado, United States, 80045

Travere Investigational Site (Enrolling 1 to <5 Year-olds Only)

Recruiting

Washington, District of Columbia, United States, 20010

Travere Investigational Site (Enrolling 1 to <5 Year-olds Only)

Recruiting

Philadelphia, Pennsylvania, United States, 19104

More Information

Sponsor

Travere Therapeutics, Inc.

Last update posted

Nov 22, 2024

Last verified

Nov, 2024

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Travere Therapeutics, Inc. on 2024-11-22.