Observational Study to Assess Natural History in Cockayne Syndrome Patients

This study has been terminated.
(The company DNage is in receivership and no longer functional)
Sponsor:
Information provided by:
DNage B.V.
ClinicalTrials.gov Identifier:
NCT00985413
First received: September 25, 2009
Last updated: June 22, 2011
Last verified: June 2011

September 25, 2009
June 22, 2011
September 2009
February 2011   (final data collection date for primary outcome measure)
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 ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT00985413 on ClinicalTrials.gov Archive Site
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 ] [ Designated as safety issue: No ]
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 ] [ Designated as safety issue: No ]
Not Provided
Not Provided
 
Observational Study to Assess Natural History in Cockayne Syndrome Patients
An Observational Study to Assess the Natural History Including Growth and Hearing in Patients With Cockayne Syndrome

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.

Not Provided
Observational
Observational Model: Cohort
Not Provided
Retention:   Samples With DNA
Description:

whole blood, plasma, serum, white blood cells, urine, tissue

Probability Sample

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

Cockayne Syndrome
Not Provided
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Terminated
40
February 2011
February 2011   (final data collection date for primary outcome measure)

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
Both
1 Year to 11 Years
No
Contact information is only displayed when the study is recruiting subjects
United States,   France,   United Kingdom
 
NCT00985413
MP1003-01
Yes
Dr. E. Neilan, Principal Investigator, Children's Hospital Boston
DNage B.V.
Not Provided
Principal Investigator: E. G. Neilan, MD, PhD Children's Hospital Boston
DNage B.V.
June 2011

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP