Metabolic Study of Cockayne Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Clinical Phase

NA

Total Enrollment

25 participants

Study Classification

INTERVENTIONAL

Study Start Date

2017-04-04

Study Completion Date

2024-08-01

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.

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Detailed Description

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Conditions

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Cockayne Syndrome

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

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Cockayne patients

Interventions performed:

* blood sample
* urinary collection
* metabolic evaluation
* clinical evaluation

Group Type OTHER

Metabolic evaluation

Intervention Type OTHER

* diet assessment
* biological evaluation
* clinical evaluation
* metabolic evaluation (calorimetry)

Control subjects

Interventions performed:

* urinary collection
* metabolic evaluation
* clinical evaluation

Group Type OTHER

Metabolic evaluation

Intervention Type OTHER

* diet assessment
* biological evaluation
* clinical evaluation
* metabolic evaluation (calorimetry)

Interventions

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Metabolic evaluation

* diet assessment
* biological evaluation
* clinical evaluation
* metabolic evaluation (calorimetry)

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Male and female with cockayne syndrome
* Age\>6 months

* Sister or brother of Cockayne patients
* Age\>6 months

Exclusion Criteria

* Intercurrent diseases
* Subject in period of exclusion
* Pregnancy and breastfeeding

Control subjects :

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

Minimum Eligible Age

6 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes