Clinical Trial: Observational Study to Assess Natural History in Cockayne Syndrome Patients

Study Status: Terminated
Recruit Status: Terminated
Study Type: Observational

Official Title: An Observational Study to Assess the Natural History Including Growth and Hearing in Patients With Cockayne Syndrome

Brief Summary:

This is an Observational Study of children under the age of 11 diagnosed with Cockayne Syndrome to assess the natural progression of Cockayne Syndrome disease, with special attention to hearing and physical changes in length or height, weight, head circumference, and arm span during standard treatment.

The primary analytical objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.

Detailed Summary:
Sponsor: DNage B.V.

Current Primary Outcome: The primary objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age. [ Time Frame: 6 -12 months ]

Original Primary Outcome: Same as current

Current Secondary Outcome: Hearing Test Results tabulated and with the severity/deficits to be correlated with patient age, height velocity, and Pediatric Evaluation of Disabilities Inventory (PEDI)Score [ Time Frame: 6-12 months ]

Original Secondary Outcome: Hearing Test Results tabulated and with the severity/deficits to be correlated with patient age, growth, and gene mutation involved (ERCC6 or ERCC8) or cellular responses to ultraviolet (UV)-induced deoxyribonucleic acid (DNA) damage. [ Time Frame: 6-12 months ]

Information By: DNage B.V.

Dates:
Date Received: September 25, 2009
Date Started: September 2009
Date Completion:
Last Updated: June 22, 2011
Last Verified: June 2011