Metabolic Study of Cockayne Syndrome (METABO-CS)

NCT03044210 NA TERMINATED

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.

Details

Lead sponsor	University Hospital, Strasbourg, France
Phase	NA
Status	TERMINATED
Enrolment	25
Start date	Tue Apr 04 2017 00:00:00 GMT+0000 (Coordinated Universal Time)
Completion	Thu Aug 01 2024 00:00:00 GMT+0000 (Coordinated Universal Time)

Conditions

• Cockayne Syndrome

Interventions

• Metabolic evaluation

Countries

France