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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.
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Inclusion criteria
Pediatric patients with a documented diagnosis of CS, as suggested by clinical features and possible confirmation by genetic consultation and analysis
Age of participation:
Exclusion criteria
Severe contractures or physical deformities that in the opinion of the investigator would prevent accurate measurement of height, length and ulna length
Patients that have taken growth hormone or growth hormone related medications within 12 months prior to the date of Informed Consent/Assent
Known history of inborn error of hyperprolinemia (Type I or Type II)
Clinical features present at the time of initial screening that are associated with the terminal phases of the natural progression of CS suggesting safe travel and completion of the study and its assessments to be unlikely as judged by the Investigator, including any of the following:
Presence of scoliosis with a Cobb's angle of 30º or greater
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Data sourced from clinicaltrials.gov
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