Observational Study to Assess Natural History in Cockayne Syndrome Patients

June 22, 2011 updated by: DNage B.V.

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.

Study Overview

Status

Terminated

Conditions

Cockayne Syndrome

Study Type

Observational

Enrollment (Anticipated)

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

France
- Cedex
  - Strasbourg, Cedex, France, 67098
    - Hopitaux Universitaires de Strasbourg, Service de Pédiatrie 1
United Kingdom
- - Manchester, United Kingdom, M13 9 WL
    - St. Mary's Hospital, Genetic Medicine, 6th Floor, Oxford Road
United States
- Massachusetts
  - Boston, Massachusetts, United States, 02115
    - Harvard medical School, Children's Hospital Boston, Division of Genetics & Metabolism
- New York
  - New York, New York, United States, 10016
    - New York University Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 7 years (Child)

Accepts Healthy Volunteers

Genders Eligible for Study

All

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

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Observational Models: Cohort

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
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	6 -12 months

Secondary Outcome Measures

Outcome Measure	Time Frame
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	6-12 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

DNage B.V.

Investigators

Principal Investigator: E. G. Neilan, MD, PhD, Boston Children's Hospital

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2009

Primary Completion (Actual)

February 1, 2011

Study Completion (Actual)

February 1, 2011

Study Registration Dates

First Submitted

September 25, 2009

First Submitted That Met QC Criteria