Metabolic Study of Cockayne Syndrome

Study Overview
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Brief Summary
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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.

Official Title
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Metabolic Study of Cockayne Syndrome

Conditions
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Cockayne Syndrome

Intervention / Treatment
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* Other: Metabolic evaluation


Participation Criteria
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Eligibility Criteria
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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 Exclusion criteria: Intercurrent diseases Subject in periods of exclusion Pregnancy and breastfeeding

Ages Eligible for Study
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Minimum Age: 6 Months

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Other: Cockayne patients<br>Interventions performed: blood sample urinary collection metabolic evaluation clinical evaluation | Other: Metabolic evaluation<br>* diet assessment biological evaluation clinical evaluation metabolic evaluation (calorimetry)<br>|
| Other: Control subjects<br>Interventions performed: urinary collection metabolic evaluation clinical evaluation | Other: Metabolic evaluation<br>* diet assessment biological evaluation clinical evaluation metabolic evaluation (calorimetry)<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Rest energetic cost measured by indirect calorimetry compared to calculated Black equation |  | Day 0 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Rest energetic cost measured by indirect calorimetry, Hormonal axis, Mitochondrial oxidative phosphorylation, Basal metabolism