Orphan Technologies Ltd is looking for male and female patients, between the ages 5 to 65 years, who have been clinically diagnosed with homocystinuria.
Purpose: To characterize the clinical course of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) in pediatric 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
- 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
- Patients who are clinically diagnosed with homocystinuria
- Male / female patients aged 5 to 65 years
- Patients who consented and/or assented
- 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
- Emory University - Decatur, Georgia
- Boston Children's Hospital - Boston, Massachusetts
- Children's Hospital of Philadelphia - Philadelphia, Pennsylvania
Contact: Ann Kuan (781) 966-3822
To read more about the patient study, visit the Clinical Trials.gov website.