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Trial record 3 of 8 for:    homocystinuria

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

This study is currently recruiting participants.
Verified October 2017 by Orphan Technologies Ltd
Sponsor:
ClinicalTrials.gov Identifier:
NCT02998710
First Posted: December 20, 2016
Last Update Posted: October 11, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Information provided by (Responsible Party):
Orphan Technologies Ltd
  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:


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

Information from the National Library of Medicine

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, Learn About Clinical Studies.


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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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 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
First Submitted: December 2, 2016
First Posted: December 20, 2016
Last Update Posted: October 11, 2017
Last Verified: October 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