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 25, 2020
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Tracking Information | |||||||||
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First Submitted Date ICMJE | January 16, 2017 | ||||||||
First Posted Date ICMJE | February 6, 2017 | ||||||||
Last Update Posted Date | August 25, 2020 | ||||||||
Actual Study Start Date ICMJE | April 4, 2017 | ||||||||
Estimated Primary Completion Date | April 2021 (Final data collection date for primary outcome measure) | ||||||||
Current Primary Outcome Measures ICMJE |
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 |
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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. |
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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 |
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Condition ICMJE | Cockayne Syndrome | ||||||||
Intervention ICMJE | Other: Metabolic evaluation
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Study Arms ICMJE |
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Publications * | Not Provided | ||||||||
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||||||
Recruitment Status ICMJE | Recruiting | ||||||||
Estimated Enrollment ICMJE |
45 | ||||||||
Original Estimated Enrollment ICMJE | Same as current | ||||||||
Estimated Study Completion Date ICMJE | April 2021 | ||||||||
Estimated Primary Completion Date | April 2021 (Final data collection date for primary outcome measure) | ||||||||
Eligibility Criteria ICMJE | Cockayne patients: Inclusion criteria :
Exclusion criteria:
Control subjects : Inclusion criteria :
Exclusion criteria:
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Sex/Gender ICMJE |
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Ages ICMJE | 6 Months and older (Child, Adult, Older Adult) | ||||||||
Accepts Healthy Volunteers ICMJE | Yes | ||||||||
Contacts ICMJE |
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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 |
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IPD Sharing Statement ICMJE |
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Responsible Party | University Hospital, Strasbourg, France | ||||||||
Study Sponsor ICMJE | University Hospital, Strasbourg, France | ||||||||
Collaborators ICMJE | Not Provided | ||||||||
Investigators ICMJE |
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PRS Account | University Hospital, Strasbourg, France | ||||||||
Verification Date | August 2020 | ||||||||
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |