Growth Curves in Cockayne Syndrome Type 1 and Type 2

• Conditions: Cockayne Syndrome, Type I and II

• Registration Number: NCT05090917
• Lead Sponsor: University Hospital, Strasbourg, France

Brief Summary

Despite the natural progression of Cockayne's syndrome, affected patients also present with variable neurological and gastrointestinal damage (gastroesophageal reflux, recurrent vomiting, swallowing disorders, etc.) with varying repercussions on their growth. Acute intercurrent events such as seizures, constipation, infections can also interact with their metabolism, food intake and influence their growth. The nutritional deficit potentially involved in this growth retardation can be responsible for many manifestations such as anemia, bone fractures, fatigue, coagulation disorders responsible in total for the reduction in quality and life expectancy.

Faced with growth retardation in patients with Cockayne syndrome, medical management is difficult to establish. Is this delay part of the natural course of the pathology?

Detailed Description

Not available

Study Timeline

• Study Start: 2020-11-01
• Status Verified: 2021-10
• Study First Submitted: 2021-10-11
• Study First Submitted QC: 2021-10-11
• Study First Posted: 2021-10-25
• Last Update Submitted: 2021-11-18
• Last Update Posted: 2021-12-01
• Primary Completion: 2022-05-15
• Study Completion: 2022-05-15

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 85

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Development of growth curves in Cockayne syndrome type 1 and type 2 from existing medical data	Files analysed retrospectively from January 01, 1985 to March 01, 2020 will be examined]

Trial Locations

Locations (1)

Service de Pédiatrie1 - Hôpitaux Universitaires de Strasbourg; 🇫🇷 Strasbourg, France