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 25, 2020

See Contacts and Locations

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 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

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

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 :

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

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:

Responsible Party

University Hospital, Strasbourg, France

Study Sponsor ^ICMJE

University Hospital, Strasbourg, France

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 2020

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

To Top