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
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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 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 |

Arm | Intervention/treatment |
---|---|
Cockayne patients
Interventions performed:
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Other: Metabolic evaluation
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Control subjects
Interventions performed:
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Other: Metabolic evaluation
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- Rest energetic cost measured by indirect calorimetry compared to calculated Black equation [ Time Frame: Day 0 ]
- 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 ]

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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 |
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

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
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 |
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 |
Principal Investigator: | Marie-Aude SPITZ, MD | Hôpitauc Universitaires de Strasbourg |
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 |
Studies a U.S. FDA-regulated Drug Product: | No |
Studies a U.S. FDA-regulated Device Product: | No |
Rest energetic cost measured by indirect calorimetry Hormonal axis Mitochondrial oxidative phosphorylation Basal metabolism |
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 |