Last updated on July 2019

Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH)


Are you eligible to participate in this study?

You may be eligible for this study if you meet the following criteria:

  • Conditions: Homocystinuria Due to CBS Deficiency
  • Age: Between 5 - 65 Years
  • Gender: Male or Female

Inclusion Criteria:

  • Patients who are clinically diagnosed with homocystinuria
  • Male/female patients aged 5 to 65 years
  • Patients who consented and/or assented

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

Recruitment Status: Open


Brief Description Eligibility Contact Research Team


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