NCT00985413

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.

Trial Health

60
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
40

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Sep 2009

Geographic Reach
3 countries

4 active sites

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

September 1, 2009

Completed
24 days until next milestone

First Submitted

Initial submission to the registry

September 25, 2009

Completed
3 days until next milestone

First Posted

Study publicly available on registry

September 28, 2009

Completed
1.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

February 1, 2011

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

February 1, 2011

Completed
Last Updated

June 23, 2011

Status Verified

June 1, 2011

Enrollment Period

1.4 years

First QC Date

September 25, 2009

Last Update Submit

June 22, 2011

Conditions

Cockayne Syndrome

Keywords

Cockayne SyndromepediatricsgrowthhearingAgeing

Outcome Measures

Primary Outcomes (1)

  • 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

Secondary Outcomes (1)

  • 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

Eligibility Criteria

Age1 Year - 11 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodProbability 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

You may qualify if:

  • 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

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Harvard medical School, Children's Hospital Boston, Division of Genetics & Metabolism

Boston, Massachusetts, 02115, United States

Location

New York University Medical Center

New York, New York, 10016, United States

Location

Hopitaux Universitaires de Strasbourg, Service de Pédiatrie 1

Strasbourg, Cedex, 67098, France

Location

St. Mary's Hospital, Genetic Medicine, 6th Floor, Oxford Road

Manchester, M13 9 WL, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

Cockayne Syndrome

Condition Hierarchy (Ancestors)

DwarfismBone Diseases, DevelopmentalBone DiseasesMusculoskeletal DiseasesHeredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornDNA Repair-Deficiency DisordersMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • E. G. Neilan, MD, PhD

    Boston Children's Hospital

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Sponsor Type
INDUSTRY

Study Record Dates

First Submitted

September 25, 2009

First Posted

September 28, 2009

Study Start

September 1, 2009

Primary Completion

February 1, 2011

Study Completion

February 1, 2011

Last Updated

June 23, 2011

Record last verified: 2011-06

Locations

US(2)FR(1)GB(1)