orphantechnologies
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 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

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

Sites:

  • 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.