Metabolic Study of Cockayne Syndrome

Cockayne Syndrome Clinical Trial

— METABO-CS  

Official title:

Metabolic Study of Cockayne Syndrome

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03044210
• Other study ID #: 6372
• Status: Recruiting
• Phase: N/A
• Start date: April 4, 2017
• Est. completion date: April 2024

Study information

• Verified date: August 2023
• Source: University Hospital, Strasbourg, France
• Contact: Marie-Aude SPITZ, MD
• Phone: 03 88 12 77 55
• Email: marie-aude.spitz[@]chru-strasbourg.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 45
• Est. completion date: April 2024
• Est. primary completion date: April 2024
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 6 Months and older

Eligibility

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

Related Conditions & MeSH terms

• Cockayne Syndrome
• Syndrome

Intervention

Other:
• Metabolic evaluation
diet assessment biological evaluation clinical evaluation metabolic evaluation (calorimetry)

Locations

Country	Name	City	State
France	Centre d'Investigation Clinique	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Rest energetic cost measured by indirect calorimetry compared to calculated Black equation		Day 0
Secondary	Rest energetic cost measured by indirect calorimetry compared to calculated theorical equations		Day 0
Secondary	Hormonal axis evaluation and mitochondrial activity measured by level of hormones and lactates/pyruvates in blood		Day 0
Secondary	Respiratory quotient measured by indirect calorimetry		Day 0
Secondary	Fat mass and lean mass measured by impedancemetry		Day 0