Metabolic Study of Cockayne Syndrome

Not Applicable

Terminated

• Conditions: Cockayne Syndrome
• Interventions: Other: Metabolic evaluation

• Registration Number: NCT03044210
• Lead Sponsor: University Hospital, Strasbourg, France

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2017-01-16
• Study First Submitted QC: 2017-02-02
• Study First Posted: 2017-02-06
• Study Start: 2017-04-04
• Status Verified: 2024-08
• Primary Completion: 2024-08-01
• Study Completion: 2024-08-01
• Last Update Submitted: 2024-08-16
• Last Update Posted: 2024-08-19

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 25

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Control subjects	Metabolic evaluation	Interventions performed: * urinary collection * metabolic evaluation * clinical evaluation
Cockayne patients	Metabolic evaluation	Interventions performed: * blood sample * urinary collection * metabolic evaluation * clinical evaluation

Primary Outcome Measures

Name	Time	Method
Rest energetic cost measured by indirect calorimetry compared to calculated Black equation	Day 0

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Centre d'Investigation Clinique; 🇫🇷 Strasbourg, France