Metabolic Study of Cockayne Syndrome

Metabolic Study of Cockayne Syndrome

Sponsors

Lead Sponsor: University Hospital, Strasbourg, France

Source University Hospital, Strasbourg, France
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.

Overall Status Recruiting
Start Date April 4, 2017
Completion Date April 2021
Primary Completion Date April 2021
Phase N/A
Study Type Interventional
Primary Outcome
Measure Time Frame
Rest energetic cost measured by indirect calorimetry compared to calculated Black equation Day 0
Secondary Outcome
Measure Time Frame
Rest energetic cost measured by indirect calorimetry compared to calculated theorical equations Day 0
Hormonal axis evaluation and mitochondrial activity measured by level of hormones and lactates/pyruvates in blood Day 0
Respiratory quotient measured by indirect calorimetry Day 0
Fat mass and lean mass measured by impedancemetry Day 0
Enrollment 45
Condition
Intervention

Intervention Type: Other

Intervention Name: Metabolic evaluation

Description: diet assessment biological evaluation clinical evaluation metabolic evaluation (calorimetry)

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

Gender: All

Minimum Age: 6 Months

Maximum Age: N/A

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Last Name Role Affiliation
Marie-Aude SPITZ, MD Principal Investigator Hôpitauc Universitaires de Strasbourg
Overall Contact

Last Name: Marie-Aude SPITZ, MD

Phone: 03 88 12 77 55

Phone Ext.: +33

Email: [email protected]

Location
Facility: Status: Contact: Investigator: Centre d'Investigation Clinique Myriam Durand 0388128736 +33 [email protected] Marie-Aude SPITZ, MD Principal Investigator Vincent LAUGEL, MD, PhD Sub-Investigator
Location Countries

France

Verification Date

August 2020

Responsible Party

Type: Sponsor

Keywords
Has Expanded Access No
Condition Browse
Number Of Arms 2
Arm Group

Label: Cockayne patients

Type: Other

Description: Interventions performed: blood sample urinary collection metabolic evaluation clinical evaluation

Label: Control subjects

Type: Other

Description: Interventions performed: urinary collection metabolic evaluation clinical evaluation

Acronym METABO-CS
Patient Data No
Study Design Info

Allocation: Non-Randomized

Intervention Model: Parallel Assignment

Primary Purpose: Basic Science

Masking: None (Open Label)

Source: ClinicalTrials.gov