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

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

Recruiting
1-65 years
All
Phase N/A

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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

Eligibility

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 details
    Homocystinuria Due to CBS Deficiency

NCT02998710

Travere Therapeutics, Inc.

12 April 2024

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