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pas assez de patients
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cockayne patients | Other | Interventions performed:
|
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| Control subjects | Other | Interventions performed:
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Metabolic evaluation | Other |
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| Measure | Description | Time Frame |
|---|---|---|
| Rest energetic cost measured by indirect calorimetry compared to calculated Black equation | Day 0 |
| 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 |
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Cockayne patients:
Inclusion criteria :
Exclusion criteria:
Control subjects :
Inclusion criteria :
Exclusion criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Marie-Aude SPITZ, MD | Hôpitauc Universitaires de Strasbourg | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre d'Investigation Clinique | Strasbourg | 67098 | France |
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| ID | Term |
|---|---|
| D003057 | Cockayne Syndrome |
| ID | Term |
|---|---|
| D004392 | Dwarfism |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
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| Respiratory quotient measured by indirect calorimetry | Day 0 |
| Fat mass and lean mass measured by impedancemetry | Day 0 |
| D020271 |
| Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |