Metabolic Study of Cockayne Syndrome

  • End date
    Apr 20, 2024
  • participants needed
  • sponsor
    University Hospital, Strasbourg, France
Updated on 20 September 2021


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.

Condition Cockayne Syndrome, Dwarfism, Idiopathic Short Stature, Severe Short Stature
Treatment Metabolic evaluation
Clinical Study IdentifierNCT03044210
SponsorUniversity Hospital, Strasbourg, France
Last Modified on20 September 2021


Yes No Not Sure

Inclusion Criteria

Sister or brother of Cockayne patients
Age>6 months

Exclusion Criteria

Intercurrent diseases
Subject in periods of exclusion
Pregnancy and breastfeeding
Clear my responses

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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