Natural History Study of CBS Deficiency

Natural History Study of CBS Deficiency

Orphan Technologies Ltd is looking for male and female patients, between the ages 5 to 65 years, who have been clinically diagnosed with homocystinuria.

Study Details:

Purpose: To characterise the clinical course of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) in paediatric and adult patients under current clinical management practices.

Name: A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Paediatric and Adult Patients

Study Type: Observational

Study Design:

  • Observational Model: Case-Only
  • Time Perspective: Prospective

Time Frame: January 2017 – April 2021 (estimated)

Ages Eligible for Study: 5 years to 65 years (Child, Adult)

Genders Eligible for Study: Both

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 the duration of the study


To read more about the patient study, visit the Clinical website.




Natural History Study of CBS Deficiency