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Observational Study to Assess Natural History in Cockayne Syndrome Patients

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ClinicalTrials.gov Identifier: NCT00985413
Recruitment Status : Terminated (The company DNage is in receivership and no longer functional)
First Posted : September 28, 2009
Last Update Posted : June 23, 2011
Sponsor:
Information provided by:
DNage B.V.

Tracking Information
First Submitted Date September 25, 2009
First Posted Date September 28, 2009
Last Update Posted Date June 23, 2011
Study Start Date September 2009
Actual Primary Completion Date February 2011   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: September 25, 2009)
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 Measures Same as current
Change History Complete list of historical versions of study NCT00985413 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: April 28, 2010)
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 Measures
 (submitted: September 25, 2009)
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 ]
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Observational Study to Assess Natural History in Cockayne Syndrome Patients
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 Description Not Provided
Study Type Observational
Study Design Observational Model: Cohort
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
whole blood, plasma, serum, white blood cells, urine, tissue
Sampling Method Probability Sample
Study Population Pediatric patients up to 10 years of age for females and up to 11 years of age for males who have received a diagnosis of Cockayne Syndrome
Condition Cockayne Syndrome
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Terminated
Estimated Enrollment
 (submitted: September 25, 2009)
40
Original Estimated Enrollment Same as current
Actual Study Completion Date February 2011
Actual Primary Completion Date February 2011   (Final data collection date for primary outcome measure)
Eligibility Criteria

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:

    • 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 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:

    • 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
Sex/Gender
Sexes Eligible for Study: All
Ages 1 Year to 11 Years   (Child)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries France,   United Kingdom,   United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00985413
Other Study ID Numbers MP1003-01
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Dr. E. Neilan, Principal Investigator, Children's Hospital Boston
Study Sponsor DNage B.V.
Collaborators Not Provided
Investigators
Principal Investigator: E. G. Neilan, MD, PhD Boston Children’s Hospital
PRS Account DNage B.V.
Verification Date June 2011