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

Description

The purpose of the study is to characterize the clinical course of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) in pediatric and adult patients under current clinical management practices

Study Start Date

January, 01 2017

Estimated Completion Date

April 2021

Interventions

No interventions cited

Study ID

Orphan Technologies Ltd -- CBS-HCY-NHS-01

Status

Recruiting

Trial ID

NCT02998710

Study Type

Observational

Trial Phase

N/A

Enrollment Quota

100

Sponsor

Orphan Technologies Ltd

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

Gender

All

Ages

5 Years to 65 Years

Accepts Healthy Volunteers

No

Study Locations and Contact Information (6)

Study Location Distance Name Phone Email
Boston Childrens Hospital - Boston, Massachusetts 2.6 miles None None None
Boston Childrens Hospital - Boston, Massachusetts 2.6 miles None None None
The Childrens Hospital of Philadelphia - Philadelphia, Pennsylvania 270.8 miles None None None
The Childrens Hospital of Philadelphia - Philadelphia, Pennsylvania 270.8 miles None None None
Emory University School of Medicine Department of Human Genetics - Decatur, Georgia 929.2 miles None None None
Emory University School of Medicine Department of Human Genetics - Decatur, Georgia 929.2 miles None None None

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