Metabolic Study of Cockayne Syndrome (METABO-CS)

University Hospital, Strasbourg, France

Status: Terminated

Conditions: Cockayne Syndrome

Treatments: Other: Metabolic evaluation

Study type: Interventional

Funder types: Other

Identifiers

NCT03044210

6372

Details and patient eligibility

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: 25 patients

Sex: All

Ages: 6+ months old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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

Exclusion criteria:

• Intercurrent diseases
• Subject in periods of exclusion
• Pregnancy and breastfeeding

Trial design

Primary purpose: Basic Science

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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25 participants in 2 patient groups

Cockayne patients

Other group

Description:

Interventions performed: * blood sample * urinary collection * metabolic evaluation * clinical evaluation

Treatment:

Other: Metabolic evaluation

Control subjects

Other group

Description:

Interventions performed: * urinary collection * metabolic evaluation * clinical evaluation

Treatment:

Other: Metabolic evaluation