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

This study is currently recruiting participants.

See

Contacts and Locations

Verified May 2017 by Orphan Technologies Ltd

Sponsor:

Information provided by (Responsible Party):

Orphan Technologies Ltd

ClinicalTrials.gov Identifier:

NCT02998710

First received: December 2, 2016

Last updated: May 30, 2017

Last verified: May 2017

History of Changes

Purpose

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

Condition
Homocystinuria Due to CBS Deficiency


Study Type:	Observational
Study Design:	Observational Model: Case-Only Time Perspective: Prospective
Official Title:	A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients

Resource links provided by NLM:

Genetics Home Reference related topics: homocystinuria

Genetic and Rare Diseases Information Center resources: Homocystinuria Homocystinuria Due to CBS Deficiency Inborn Amino Acid Metabolism Disorder

U.S. FDA Resources

Further study details as provided by Orphan Technologies Ltd:

Primary Outcome Measures:

National Institutes of Health (NIH) Toolbox Cognition Battery [ Time Frame: 3 years ]
EuroQol EQ-5D™ questionnaire to measure health and quality-of-life [ Time Frame: 3 years ]
EQ-5D™ is a standardized questionnaire as judged by the patients. This questionnaire consists of two parts:
1. Five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension consists of 5 levels of grading: no problem, slight problem, moderate problem, severe problem and extreme problem. For youths, 3 levels of grading: no problem, some problems, and a lot of problems.
2. Visual analogue scale (VAS) is a vertical scale from 0 (worst) to 100 (best).
Eye assessments to evaluate ocular health: Visual acuity examination will be performed to determine the clarity or sharpness of vision [ Time Frame: 3 years ]
Eye assessments to evaluate ocular health: Slit lamp eye examination will be performed to look for any diseases or abnormalities in the anterior portion of the eye [ Time Frame: 3 years ]
Dual-Energy X-Ray Absorptiometry to measure bone mineral density [ Time Frame: 3 years ]
Growth and development: World Health Organization (WHO) growth charts will be used to document height in centimeters (cm) for age 5 to 19 years old. Routine methods will be used to document height for all other age groups. [ Time Frame: 3 years ]
Growth and development: World Health Organization (WHO) growth charts will be used to document weight in kilograms (kg) for age 5 to 10 years old. Routine methods will be used to document weight for all other age groups. [ Time Frame: 3 years ]
Growth and development: World Health Organization (WHO) growth charts will be used to document Body Mass Index (BMI) in kilograms per meter square for age 5 to 19 years old. Routine methods will be used to document BMI for all other age groups. [ Time Frame: 3 years ]

Secondary Outcome Measures:

Amino acid tests [ Time Frame: 3 years ]
Optional CBSDH genetic testing [ Time Frame: The optional test will be done once at screening visit ]


Estimated Enrollment:	100
Study Start Date:	January 2017
Estimated Study Completion Date:	April 2021
Estimated Primary Completion Date:	February 2021 (Final data collection date for primary outcome measure)

Eligibility


Ages Eligible for Study:	5 Years to 65 Years (Child, Adult)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

Clinical site

Criteria

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

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02998710

Contacts


Contact: Anne Kuan	+1 781 966 3832	anne.kuan@neovii.com

Locations


United States, Georgia
Emory University, School of Medicine Department of Human Genetics	Recruiting
Decatur, Georgia, United States, 30033
United States, Massachusetts
Boston Children's Hospital	Recruiting
Boston, Massachusetts, United States, 02115
United States, Pennsylvania
The Children's Hospital of Philadelphia	Recruiting
Philadelphia, Pennsylvania, United States, 19104
Ireland
Temple Street Children's University Hospital	Not yet recruiting
Dublin, Ireland, 1
United Kingdom
Salford Royal NHS Foundation Trust	Recruiting
Salford, Manchester, United Kingdom, M6 8HD

Sponsors and Collaborators

Orphan Technologies Ltd

More Information


Responsible Party:	Orphan Technologies Ltd
ClinicalTrials.gov Identifier:	NCT02998710 History of Changes
Other Study ID Numbers:	CBS-HCY-NHS-01
Study First Received:	December 2, 2016
Last Updated:	May 30, 2017

Additional relevant MeSH terms:


Homocystinuria Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases	Hyperhomocysteinemia Amino Acid Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn Connective Tissue Diseases Metabolic Diseases

ClinicalTrials.gov processed this record on August 18, 2017

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