Growth Curves in Cockayne Syndrome Type 1 and Type 2 (Curves-CS)

November 18, 2021 updated by: University Hospital, Strasbourg, France

Development of Growth Curves in Cockayne Syndrome Type 1 and Type 2

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?

Study Overview

Status

Recruiting

Conditions

Cockayne Syndrome, Type I and II

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 Contact

Name: Vincent LAUGEL, MD, PhD
Phone Number: 33 3 88 12 77 43
Email: vincent.laugel@chru-strasbourg.fr

Study Locations

France
- - Strasbourg, France, 67091
    - Recruiting
    - Service de Pédiatrie1 - Hôpitaux Universitaires de Strasbourg
    - Contact:
      
      Vincent LAUGEL, MD, PhD
      
      Phone Number: 33 3 88 12 77 43
      
      Email: vincent.laugel@chru-strasbourg.fr
    - Principal Investigator:
      
      Vincent Laugel, MD, PhD
    - Sub-Investigator:
      
      Sarah BAER, MD

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

1 year to 17 years (Child)

Accepts Healthy Volunteers

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Minor patient with cockayne syndrome with molecular confirmation, treated between 01/01/1985 and 01/03/2020

Description

Inclusion criteria:

Minor patient
Cockayne syndrome with molecular confirmation, treated between 01/01/1985 and 01/03/2020
Collection of at least one growth data (height, weight, head circumference) for a given age
Clinic compatible with type 1 or 2 Cockayne syndrome
Holder of parental authority not opposing, after information, the reuse of their child's medical data for the purposes of this scientific research.

Exclusion criteria:

Refusal to participate in the study.
Lack of molecular confirmation of Cockayne syndrome
Lack of growth data for a given age.
Clinic not compatible with type 1 or 2 Cockayne syndrome. Exclusion of type 3 Cockayne syndromes, trichothiodystrophy and xeroderma-pigmentosum.

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: Case-Control
Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

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

Sponsor

University Hospital, Strasbourg, France

Investigators

Principal Investigator: Vincent LAUGEL, MD, PhD, Service de Pédiatrie1 - Hôpitaux Universitaires de Strasbourg

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 (Actual)

November 1, 2020

Primary Completion (Anticipated)

May 15, 2022

Study Completion (Anticipated)

May 15, 2022

Study Registration Dates

First Submitted

October 11, 2021

First Submitted That Met QC Criteria