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Metabolic Study of Cockayne Syndrome

NCT03044210 · Status: TERMINATED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 25

Last updated 2025-08-03

No results posted yet for this study

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.

Conditions

  • Cockayne Syndrome

Interventions

OTHER

Metabolic evaluation

* diet assessment * biological evaluation * clinical evaluation * metabolic evaluation (calorimetry)

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Principal Investigators

  • Marie-Aude SPITZ, MD · Hôpitauc Universitaires de Strasbourg

Study Design

Allocation
NON_RANDOMIZED
Purpose
BASIC_SCIENCE
Masking
NONE
Model
PARALLEL

Eligibility

Min Age
6 Months
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2017-04-04
Primary Completion
2024-08-01
Completion
2024-08-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03044210 on ClinicalTrials.gov