Trial record 1 of 3 for:    "Cockayne syndrome"
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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
  Purpose

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.


Condition
Cockayne Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: An Observational Study to Assess the Natural History Including Growth and Hearing in Patients With Cockayne Syndrome

Resource links provided by NLM:


Further study details as provided by DNage B.V.:

Primary Outcome Measures:
  • 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 ]

Secondary Outcome Measures:
  • 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 ]

Biospecimen Retention:   Samples With DNA

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


Estimated Enrollment: 40
Study Start Date: September 2009
Study Completion Date: February 2011
Primary Completion Date: February 2011 (Final data collection date for primary outcome measure)
  Eligibility

Ages Eligible for Study:   1 Year to 11 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00985413

Locations
United States, Massachusetts
Harvard medical School, Children's Hospital Boston, Division of Genetics & Metabolism
Boston, Massachusetts, United States, 02115
United States, New York
New York University Medical Center
New York, New York, United States, 10016
France
Hopitaux Universitaires de Strasbourg, Service de Pédiatrie 1
Strasbourg, Cedex, France, 67098
United Kingdom
St. Mary's Hospital, Genetic Medicine, 6th Floor, Oxford Road
Manchester, United Kingdom, M13 9 WL
Sponsors and Collaborators
DNage B.V.
Investigators
Principal Investigator: E. G. Neilan, MD, PhD Children's Hospital Boston
  More Information

No publications provided

Responsible Party: Dr. E. Neilan, Principal Investigator, Children's Hospital Boston
ClinicalTrials.gov Identifier: NCT00985413     History of Changes
Obsolete Identifiers: NCT01230333
Other Study ID Numbers: MP1003-01
Study First Received: September 25, 2009
Last Updated: June 22, 2011
Health Authority: United States: Institutional Review Board

Keywords provided by DNage B.V.:
Cockayne Syndrome
pediatrics
growth
hearing
Ageing

Additional relevant MeSH terms:
Cockayne Syndrome
Syndrome
Disease
Pathologic Processes
Dwarfism
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases

ClinicalTrials.gov processed this record on September 22, 2014