Metabolic Study of Cockayne Syndrome (METABO-CS)

August 1, 2025 updated by: University Hospital, Strasbourg, France

Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair. It is an autosomal recessive multisystemic disorder characterized by mental retardation, microcephaly, severe growth failure with lipoatrophia, sensorial impairment, cutaneous photosensitivity, dental decay, enophtalmios. The disease is progressive causing severe impairments but there's currently no therapeutics for the disease.

Growth failure, feeding difficulties and lipoatrophia are prognostic keys of CS but physiopathology is unknown.

According to preliminary assays, our goal is to test the hypothesis that cachexia is due to hypometabolism. We also want to test the potential link between this basal metabolism modification and mitochondrial dysfunction and somatotrope axis, and correlation between the basal metabolism degree and global severity of the disease.

Study Overview

Status

Terminated

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

25

Phase

  • Not Applicable

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
      • Strasbourg, France, 67098
        • Centre d'investigation Clinique

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

6 months and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Description

Cockayne patients:

Inclusion criteria :

  • Male and female with cockayne syndrome
  • Age>6 months

Exclusion criteria:

  • Intercurrent diseases
  • Subject in period of exclusion
  • Pregnancy and breastfeeding

Control subjects :

Inclusion criteria :

  • Sister or brother of Cockayne patients
  • Age>6 months

Exclusion criteria:

  • Intercurrent diseases
  • Subject in periods of exclusion
  • Pregnancy and breastfeeding

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

  • Primary Purpose: Basic Science
  • Allocation: Non-Randomized
  • Interventional Model: Parallel Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Cockayne patients

Interventions performed:

  • blood sample
  • urinary collection
  • metabolic evaluation
  • clinical evaluation
Other: Metabolic evaluation
  • diet assessment
  • biological evaluation
  • clinical evaluation
  • metabolic evaluation (calorimetry)
Other: Control subjects

Interventions performed:

  • urinary collection
  • metabolic evaluation
  • clinical evaluation
Other: Metabolic evaluation
  • diet assessment
  • biological evaluation
  • clinical evaluation
  • metabolic evaluation (calorimetry)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Rest energetic cost measured by indirect calorimetry compared to calculated Black equation
Time Frame: Day 0
Day 0

Secondary Outcome Measures

Outcome Measure
Time Frame
Rest energetic cost measured by indirect calorimetry compared to calculated theorical equations
Time Frame: Day 0
Day 0
Hormonal axis evaluation and mitochondrial activity measured by level of hormones and lactates/pyruvates in blood
Time Frame: Day 0
Day 0
Respiratory quotient measured by indirect calorimetry
Time Frame: Day 0
Day 0
Fat mass and lean mass measured by impedancemetry
Time Frame: Day 0
Day 0

Collaborators and Investigators

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

Sponsor

University Hospital, Strasbourg, France

Investigators

  • Principal Investigator: Marie-Aude SPITZ, MD, Hôpitauc 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)

April 4, 2017

Primary Completion (Actual)

August 1, 2024

Study Completion (Actual)

August 1, 2024

Study Registration Dates

First Submitted

January 16, 2017

First Submitted That Met QC Criteria

February 2, 2017

First Posted (Estimated)

February 6, 2017

Study Record Updates

Last Update Posted (Actual)

August 3, 2025

Last Update Submitted That Met QC Criteria

August 1, 2025

Last Verified

August 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 6372

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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