Cockayne SyndromeMETABO-CSNCT03044210
Metabolic Study of Cockayne Syndrome
A study testing Metabolic evaluation in people with Cockayne Syndrome, run by University Hospital, Strasbourg, France at 1 site in France.
Trial 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… Read more about this study
- Who is it for?
- Ages 6 months and olderHealthy volunteers can take part
- Conditions the study is for
- Cockayne Syndrome
- What is being tested?
- Metabolic evaluation
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 25 participants
- Where
- 1 siteFrance
- Study dates
- 4 Apr 2017to 1 Aug 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 months and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Male and female with cockayne syndrome
- Age>6 months
- Sister or brother of Cockayne patients
- Age>6 months
Who cannot join
- Intercurrent diseases
- Subject in period of exclusion
- Pregnancy and breastfeeding
- Control subjects :
- Intercurrent diseases
- Subject in periods of exclusion
- Pregnancy and breastfeeding
Trial locations and contacts
1 site in 1 country.
About this study
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.
- Conditions
- Cockayne Syndrome
- Being tested
- Metabolic evaluation
- Keywords
- Rest energetic cost measured by indirect calorimetry, Hormonal axis, Mitochondrial oxidative phosphorylation, Basal metabolism
- Medical subject headings
- Cockayne Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Metabolic evaluationOther
- diet assessment
- biological evaluation
- clinical evaluation
- metabolic evaluation (calorimetry)
| Study group | Role | What they receive |
|---|---|---|
| Cockayne patients | Other | Interventions performed:
* blood sample
* urinary collection
* metabolic evaluation
* clinical evaluation Receives: Other: Metabolic evaluation |
| Control subjects | Other | Interventions performed:
* urinary collection
* metabolic evaluation
* clinical evaluation Receives: Other: Metabolic evaluation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Rest energetic cost measured by indirect calorimetry compared to calculated Black equation
Measured: Day 0
Secondary outcomes (4)
Rest energetic cost measured by indirect calorimetry compared to calculated theorical equations
Measured: Day 0
Hormonal axis evaluation and mitochondrial activity measured by level of hormones and lactates/pyruvates in blood
Measured: Day 0
Respiratory quotient measured by indirect calorimetry
Measured: Day 0
Fat mass and lean mass measured by impedancemetry
Measured: Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Feb 2017 (estimated)
- Study start4 Apr 2017
- Primary completion1 Aug 2024
- Study completion1 Aug 2024
Why it stopped: pas assez de patients
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cockayne SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 25 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Marie-Aude SPITZ, MD, Principal investigator, Hôpitauc Universitaires de Strasbourg
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03044210
- Sponsor's protocol ID
- 6372
- Acronym
- METABO-CS
- Status last verified
- Aug 2025
- First submitted
- 16 Jan 2017
- Last updated
- 3 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Metabolic Study of Cockayne Syndrome
- ClinicalTrials.gov ID
- NCT03044210
- Acronym / sponsor ID
- METABO-CS / 6372
- Conditions
- Cockayne Syndrome
- Keywords
- Rest energetic cost measured by indirect calorimetry, Hormonal axis, Mitochondrial oxidative phosphorylation, Basal metabolism
- Study type
- Interventional
- Recruitment status
- TerminatedReason stopped: pas assez de patients
- Enrolment
- 25 participants (actual)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 4 Apr 2017 (actual)
- Primary completion
- 1 Aug 2024 (actual)
- Study completion
- 1 Aug 2024 (actual)
- First posted
- 6 Feb 2017 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cockayne patients | Other | Other: Metabolic evaluationInterventions performed: * blood sample * urinary collection * metabolic evaluation * clinical evaluation |
| Control subjects | Other | Other: Metabolic evaluationInterventions performed: * urinary collection * metabolic evaluation * clinical evaluation |
Who may qualify
- Ages
- 6 months and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Male and female with cockayne syndrome
- Age>6 months
- Sister or brother of Cockayne patients
- Age>6 months
Key exclusion criteria (7 listed)
- Intercurrent diseases
- Subject in period of exclusion
- Pregnancy and breastfeeding
- Intercurrent diseases
- Subject in periods of exclusion
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Metabolic evaluation* diet assessment * biological evaluation * clinical evaluation * metabolic evaluation (calorimetry) | Other | Cockayne patients, Control subjects |
Primary outcome
Rest energetic cost measured by indirect calorimetry compared to calculated Black equation
Time frame: Day 0
4 secondary outcomes
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
Results and safety
The study was stopped early (reason given: pas assez de patients). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Aug 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Marie-Aude SPITZ, MD principal investigator
Hôpitauc Universitaires de Strasbourg
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Metabolic evaluation in people with Cockayne Syndrome, run by University Hospital, Strasbourg, France at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 3 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: pas assez de patients). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Rest energetic cost measured by indirect calorimetry compared to calculated Black equation (time frame: Day 0). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Aug 2025.