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Metabolic Study of Cockayne Syndrome (METABO-CS)

Primary Purpose

Cockayne Syndrome

Status
Recruiting
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
Metabolic evaluation
Sponsored by
University Hospital, Strasbourg, France
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional basic science trial for Cockayne Syndrome focused on measuring Rest energetic cost measured by indirect calorimetry, Hormonal axis, Mitochondrial oxidative phosphorylation, Basal metabolism

Eligibility Criteria

6 Months - undefined (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

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

Sites / Locations

  • Centre d'Investigation CliniqueRecruiting

Arms of the Study

Arm 1

Arm 2

Arm Type

Other

Other

Arm Label

Cockayne patients

Control subjects

Arm Description

Interventions performed: blood sample urinary collection metabolic evaluation clinical evaluation

Interventions performed: urinary collection metabolic evaluation clinical evaluation

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

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

Full Information

First Posted
January 16, 2017
Last Updated
August 18, 2023
Sponsor
University Hospital, Strasbourg, France
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1. Study Identification

Unique Protocol Identification Number
NCT03044210
Brief Title
Metabolic Study of Cockayne Syndrome
Acronym
METABO-CS
Official Title
Metabolic Study of Cockayne Syndrome
Study Type
Interventional

2. Study Status

Record Verification Date
August 2023
Overall Recruitment Status
Recruiting
Study Start Date
April 4, 2017 (Actual)
Primary Completion Date
April 2024 (Anticipated)
Study Completion Date
April 2024 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
University Hospital, Strasbourg, France

4. Oversight

Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Cockayne Syndrome
Keywords
Rest energetic cost measured by indirect calorimetry, Hormonal axis, Mitochondrial oxidative phosphorylation, Basal metabolism

7. Study Design

Primary Purpose
Basic Science
Study Phase
Not Applicable
Interventional Study Model
Parallel Assignment
Masking
None (Open Label)
Allocation
Non-Randomized
Enrollment
45 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
Cockayne patients
Arm Type
Other
Arm Description
Interventions performed: blood sample urinary collection metabolic evaluation clinical evaluation
Arm Title
Control subjects
Arm Type
Other
Arm Description
Interventions performed: urinary collection metabolic evaluation clinical evaluation
Intervention Type
Other
Intervention Name(s)
Metabolic evaluation
Intervention Description
diet assessment biological evaluation clinical evaluation metabolic evaluation (calorimetry)
Primary Outcome Measure Information:
Title
Rest energetic cost measured by indirect calorimetry compared to calculated Black equation
Time Frame
Day 0
Secondary Outcome Measure Information:
Title
Rest energetic cost measured by indirect calorimetry compared to calculated theorical equations
Time Frame
Day 0
Title
Hormonal axis evaluation and mitochondrial activity measured by level of hormones and lactates/pyruvates in blood
Time Frame
Day 0
Title
Respiratory quotient measured by indirect calorimetry
Time Frame
Day 0
Title
Fat mass and lean mass measured by impedancemetry
Time Frame
Day 0

10. Eligibility

Sex
All
Minimum Age & Unit of Time
6 Months
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility 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
Central Contact Person:
First Name & Middle Initial & Last Name or Official Title & Degree
Marie-Aude SPITZ, MD
Phone
03 88 12 77 55
Ext
+33
Email
marie-aude.spitz@chru-strasbourg.fr
First Name & Middle Initial & Last Name or Official Title & Degree
Vincent LAUGEL, MD, PhD
Phone
0388128498
Ext
+33
Email
vincent.laugel@chru-strasbourg.fr
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Marie-Aude SPITZ, MD
Organizational Affiliation
Hôpitauc Universitaires de Strasbourg
Official's Role
Principal Investigator
Facility Information:
Facility Name
Centre d'Investigation Clinique
City
Strasbourg
ZIP/Postal Code
67098
Country
France
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Myriam Durand
Phone
0388128736
Ext
+33
Email
myriam.durand@chru-strasbourg.fr
First Name & Middle Initial & Last Name & Degree
Marie-Aude SPITZ, MD
First Name & Middle Initial & Last Name & Degree
Vincent LAUGEL, MD, PhD

12. IPD Sharing Statement

Plan to Share IPD
No

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Metabolic Study of Cockayne Syndrome

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