Status
Conditions
Treatments
About
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.
Enrollment
Sex
Ages
Volunteers
Inclusion and exclusion criteria
Cockayne patients:
Inclusion criteria :
Exclusion criteria:
Control subjects :
Inclusion criteria :
Exclusion criteria:
Primary purpose
Allocation
Interventional model
Masking
25 participants in 2 patient groups
Loading...
Central trial contact
Vincent LAUGEL, MD, PhD; Marie-Aude SPITZ, MD
Data sourced from clinicaltrials.gov
Clinical trials
Research sites
Resources
Legal