NCT03044210

Metabolic Study of Cockayne Syndrome

• Status: Terminated
• Phase: N/A
• Study type: Interventional
• Enrollment: 25 (actual)
• Sponsor: University Hospital, Strasbourg, France · Academic / Other
• Sex: All
• Age: 6 Months
• Healthy volunteers: Accepted

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

Type	Name	Description
OTHER	Metabolic evaluation	* diet assessment * biological evaluation * clinical evaluation * metabolic evaluation (calorimetry)

Timeline

• Start date: 2017-04-04
• Primary completion: 2024-08-01
• Completion: 2024-08-01
• First posted: 2017-02-06
• Last updated: 2025-08-03

Locations

1 site across 1 country: France