Status:
TERMINATED
Observational Study to Assess Natural History in Cockayne Syndrome Patients
Lead Sponsor:
DNage B.V.
Conditions:
Cockayne Syndrome
Eligibility:
All Genders
1-11 years
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 ph...
Eligibility Criteria
Inclusion
- Pediatric patients with a documented diagnosis of CS, as suggested by clinical features and possible confirmation by genetic consultation and analysis
- Age of participation:
- At least 12 months of age at the time of signing Informed Consent/Assent
- Female patient's age will not be greater than 10 years of age at the time of signing Informed Consent/Assent
- Male patient's age will not be greater than 11 years of age at the time of signing Informed Consent/Assent
Exclusion
- 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:
- Continuous or intermittent dependence on supplemental oxygen at home during the prior six months
- Two or more hospitalizations for pneumonia during the prior 12 months;
- A documented net weight loss of at least 10%, which has not been recovered and which includes a significant net weight loss (beyond the estimated error of the measurement) over the most recent 6 months, despite intensive nutritional support including the use of gastrostomy tube feedings
- Presence of scoliosis with a Cobb's angle of 30º or greater
Key Trial Info
Start Date :
September 1 2009
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
February 1 2011
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT00985413
Start Date
September 1 2009
End Date
February 1 2011
Last Update
June 23 2011
Active Locations (4)
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1
Harvard medical School, Children's Hospital Boston, Division of Genetics & Metabolism
Boston, Massachusetts, United States, 02115
2
New York University Medical Center
New York, New York, United States, 10016
3
Hopitaux Universitaires de Strasbourg, Service de Pédiatrie 1
Strasbourg, Cedex, France, 67098
4
St. Mary's Hospital, Genetic Medicine, 6th Floor, Oxford Road
Manchester, United Kingdom, M13 9 WL