Metabolic Study of Cockayne Syndrome

NCT03044210 | Terminated

• 1 other identifier: 6372
• Study Type: interventional
• Target: 25
• Locations: 1 country
• Sites: 1

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.

Conditions

Cockayne Syndrome

Keywords

Rest energetic cost measured by indirect calorimetry; Hormonal axis; Mitochondrial oxidative phosphorylation; Basal metabolism

Outcome Measures

Primary Outcomes (1)

• Rest energetic cost measured by indirect calorimetry compared to calculated Black equation

  Day 0

Secondary Outcomes (4)

• 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

Study Arms (2)

Cockayne patients

OTHER

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

Other: Metabolic evaluation

Control subjects

OTHER

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

Other: Metabolic evaluation

Interventions

Metabolic evaluation OTHER

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

Cockayne patients; Control subjects

Eligibility Criteria

• Age: 6 Months+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

You may not qualify if:

• Intercurrent diseases
• Pregnancy and breastfeeding
• Control subjects :
• Sister or brother of Cockayne patients
• Age\>6 months
• Intercurrent diseases
• Pregnancy and breastfeeding

Sponsors & Collaborators

• University Hospital, Strasbourg, France: lead

Study Sites (1)

Centre d'Investigation Clinique

Strasbourg, 67098, France

Location

MeSH Terms

Conditions

Cockayne Syndrome

Condition Hierarchy (Ancestors)

Dwarfism; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Marie-Aude SPITZ, MD

  Hôpitauc Universitaires de Strasbourg

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 16, 2017
• First Posted: February 6, 2017
• Study Start: April 4, 2017
• Primary Completion: August 1, 2024
• Study Completion: August 1, 2024
• Last Updated: August 3, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)