Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

Description

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

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Study Overview

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Study Details

Study overview

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

A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients (ACAPPELLA)

Natural History Study of Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency (ACAPPELLA)

Condition
Homocystinuria Due to CBS Deficiency
Intervention / Treatment

-

Contacts and Locations

Culver City

Travere Investigational Site - Virtual Site, Culver City, California, United States, 90230

Aurora

Travere Investigational Site (Enrolling 1 to <5 Year-olds Only), Aurora, Colorado, United States, 80045

Washington

Travere Investigational Site (Enrolling 1 to <5 Year-olds Only), Washington, District of Columbia, United States, 20010

Atlanta

Travere Investigational Site, Atlanta, Georgia, United States, 30322

Indianapolis

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

Boston

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

Philadelphia

Travere Investigational Site (Enrolling 1 to <5 Year-olds Only), Philadelphia, Pennsylvania, United States, 19104

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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.
  • * 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

Ages Eligible for Study

1 Year to 65 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Travere Therapeutics, Inc.,

Michael Imperiale, MD, STUDY_DIRECTOR, Travere Therapeutics, Inc.

Study Record Dates

2026-08