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Metabolic Study of Cockayne Syndrome (METABO-CS)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03044210
Recruitment Status : Recruiting
First Posted : February 6, 2017
Last Update Posted : August 19, 2022
Sponsor:
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

Tracking Information
First Submitted Date  ICMJE January 16, 2017
First Posted Date  ICMJE February 6, 2017
Last Update Posted Date August 19, 2022
Actual Study Start Date  ICMJE April 4, 2017
Estimated Primary Completion Date April 2024   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: February 2, 2017)		 Rest energetic cost measured by indirect calorimetry compared to calculated Black equation [ Time Frame: Day 0 ]
Original Primary Outcome Measures  ICMJE Same as current
Change History
Current Secondary Outcome Measures  ICMJE
 (submitted: February 2, 2017)
  • 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 Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE Metabolic Study of Cockayne Syndrome
Official Title  ICMJE 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 Description Not Provided
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Condition  ICMJE Cockayne Syndrome
Intervention  ICMJE Other: Metabolic evaluation
  • diet assessment
  • biological evaluation
  • clinical evaluation
  • metabolic evaluation (calorimetry)
Study Arms  ICMJE
  • Cockayne patients

    Interventions performed:

    • blood sample
    • urinary collection
    • metabolic evaluation
    • clinical evaluation
    Intervention: Other: Metabolic evaluation
  • Control subjects

    Interventions performed:

    • urinary collection
    • metabolic evaluation
    • clinical evaluation
    Intervention: Other: Metabolic evaluation
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: February 2, 2017)		 45
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE April 2024
Estimated Primary Completion Date April 2024   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

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
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Ages  ICMJE 6 Months and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers  ICMJE Yes
Contacts  ICMJE
Contact: Marie-Aude SPITZ, MD 03 88 12 77 55 ext +33 marie-aude.spitz@chru-strasbourg.fr
Contact: Vincent LAUGEL, MD, PhD 0388128498 ext +33 vincent.laugel@chru-strasbourg.fr
Listed Location Countries  ICMJE France
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03044210
Other Study ID Numbers  ICMJE 6372
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE
Plan to Share IPD: No
Current Responsible Party University Hospital, Strasbourg, France
Original Responsible Party Same as current
Current Study Sponsor  ICMJE University Hospital, Strasbourg, France
Original Study Sponsor  ICMJE Same as current
Collaborators  ICMJE Not Provided
Investigators  ICMJE
Principal Investigator: Marie-Aude SPITZ, MD Hôpitauc Universitaires de Strasbourg
PRS Account University Hospital, Strasbourg, France
Verification Date August 2022

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP