Observational Study to Assess Natural History in Cockayne Syndrome Patients

Cockayne Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT00985413
• Other study ID #: MP1003-01
• Status: Terminated
• Phase: N/A
• First received: September 25, 2009
• Last updated: June 22, 2011
• Start date: September 2009
• Est. completion date: February 2011

Study information

• Verified date: June 2011
• Source: DNage B.V.
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

Other known NCT identifiers

• NCT01230333

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 40
• Est. completion date: February 2011
• Est. primary completion date: February 2011
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 1 Year to 11 Years

Eligibility

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

Study Design

Observational Model: Cohort

Related Conditions & MeSH terms

• Cockayne Syndrome
• Syndrome

Locations

Country	Name	City	State
France	Hopitaux Universitaires de Strasbourg, Service de Pédiatrie 1	Strasbourg	Cedex
United Kingdom	St. Mary's Hospital, Genetic Medicine, 6th Floor, Oxford Road	Manchester
United States	Harvard medical School, Children's Hospital Boston, Division of Genetics & Metabolism	Boston	Massachusetts
United States	New York University Medical Center	New York	New York

Sponsors (1)

Lead Sponsor	Collaborator
DNage B.V.

Countries where clinical trial is conducted

United States,  France,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.		6 -12 months	No
Secondary	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		6-12 months	No