Cockayne Syndrome
Conditions
Keywords
Rest energetic cost measured by indirect calorimetry, Hormonal axis, Mitochondrial oxidative phosphorylation, Basal metabolism
Brief 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.
Interventions
OTHERMetabolic evaluation
* diet assessment * biological evaluation * clinical evaluation * metabolic evaluation (calorimetry)
Sponsors
University Hospital, Strasbourg, France
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
6 Months to No maximum
Healthy volunteers
Yes
Inclusion criteria
Cockayne patients: Inclusion criteria : * Male and female with cockayne syndrome * Age\>6 months
Exclusion criteria
* Intercurrent diseases * Subject in period of exclusion * Pregnancy and breastfeeding Control subjects : Inclusion criteria : * Sister or brother of Cockayne patients * Age\>6 months
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Rest energetic cost measured by indirect calorimetry compared to calculated Black equation | Day 0 |
Secondary
| Measure | Time frame |
|---|---|
| Rest energetic cost measured by indirect calorimetry compared to calculated theorical equations | Day 0 |
| Hormonal axis evaluation and mitochondrial activity measured by level of hormones and lactates/pyruvates in blood | Day 0 |
| Respiratory quotient measured by indirect calorimetry | Day 0 |
| Fat mass and lean mass measured by impedancemetry | Day 0 |
Countries
France
Outcome results
None listed