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Metabolic Study of Cockayne Syndrome (METABO-CS)

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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

Study Description
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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.


Condition or disease Intervention/treatment Phase
Cockayne Syndrome Other: Metabolic evaluation Not Applicable

Study Design
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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 45 participants
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)
Primary Purpose: Basic Science
Official Title: Metabolic Study of Cockayne Syndrome
Actual Study Start Date : April 4, 2017
Estimated Primary Completion Date : April 2024
Estimated Study Completion Date : April 2024

Resource links provided by the National Library of Medicine


Arms and Interventions
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Arm Intervention/treatment
Cockayne patients

Interventions performed:

  • blood sample
  • urinary collection
  • metabolic evaluation
  • clinical evaluation
 Other: Metabolic evaluation
  • diet assessment
  • biological evaluation
  • clinical evaluation
  • metabolic evaluation (calorimetry)
Control subjects

Interventions performed:

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


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

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

Eligibility Criteria
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Ages Eligible for Study:   6 Months and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03044210


Contacts
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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

Locations
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France
Centre d'Investigation Clinique Recruiting
Strasbourg, France, 67098
Contact: Myriam Durand    0388128736 ext +33    myriam.durand@chru-strasbourg.fr   
Principal Investigator: Marie-Aude SPITZ, MD         
Sub-Investigator: Vincent LAUGEL, MD, PhD         
Sponsors and Collaborators
University Hospital, Strasbourg, France
Investigators
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Principal Investigator: Marie-Aude SPITZ, MD Hôpitauc Universitaires de Strasbourg
More Information
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Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier: NCT03044210    
Other Study ID Numbers: 6372
First Posted: February 6, 2017    Key Record Dates
Last Update Posted: August 19, 2022
Last Verified: August 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Strasbourg, France:
Rest energetic cost measured by indirect calorimetry
Hormonal axis
Mitochondrial oxidative phosphorylation
Basal metabolism
Additional relevant MeSH terms:
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Cockayne Syndrome
Syndrome
Disease
Pathologic Processes
Dwarfism
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
 Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
DNA Repair-Deficiency Disorders
Metabolic Diseases