Clinical Trial: Metabolic Study of Cockayne Syndrome

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Interventional

Official Title: Metabolic Study of Cockayne Syndrome

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.


Detailed Summary:
Sponsor: University Hospital, Strasbourg, France

Current Primary Outcome: Rest energetic cost measured by indirect calorimetry compared to calculated Black equation [ Time Frame: Day 0 ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Rest energetic cost measured by indirect calorimetry compared to calculated theorical equations [ Time Frame: Day 0 ]
  • Hormonal axis evaluation and mitochondrial activity measured by level of hormones and lactates/pyruvates in blood [ Time Frame: Day 0 ]
  • Respiratory quotient measured by indirect calorimetry [ Time Frame: Day 0 ]
  • Fat mass and lean mass measured by impedancemetry [ Time Frame: Day 0 ]


Original Secondary Outcome: Same as current

Information By: University Hospital, Strasbourg, France

Dates:
Date Received: January 16, 2017
Date Started: February 2017
Date Completion: February 2019
Last Updated: February 2, 2017
Last Verified: February 2017