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 Trials.gov website.