Ehlers-Danlos Syndromes (EDS)DIAGNOSEDhNCT07899554
Evaluation of the Role of Serum Tenascin-X Levels in the Diagnosis of Hypermobile Ehlers-Danlos Syndrome
A study testing Blood sampling in people with Ehlers-Danlos Syndromes (EDS), run by Assistance Publique - Hôpitaux de Paris.
Trial summary
Thirteen types of EDS have been described based on their clinical manifestations and genetic backgrounds. Their diagnosis relies on personal and family medical history, together with established clinical criteria. A definitive diagnosis can then be confirmed through genetic testing. Read more about this study
- Who is it for?
- Ages 18 to 60 years, women onlyHealthy volunteers can take part
- Conditions the study is for
- Ehlers-Danlos Syndromes (EDS)
- What is being tested?
- Blood sampling
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 80 participants
- Where
- No sites listed yet
- Study dates
- 1 Nov 2026to 1 Mar 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
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 18 to 60 years
- Women only
- Healthy volunteers accepted
- Adult
Who may be able to join
- hEDS group:
- hEDS diagnostic criteria according to the 2017 classification Female sex Age between 18 and 60 years
- Control group = healthy volunteers:
- Female sex Age between 18 and 60 years.
Who cannot join
- Pregnant or breastfeeding women Persons deprived of their liberty or under legal guardianship Persons unable to comply with the medical follow-up required for the study for geographical, social, or psychological reasons Persons not affiliated with the French social security system Inability to provide the participant with adequate information and/or inability of the participant to provide written informed consent: dementia, psychosis, impaired consciousness, non-French-speaking patients
- Control group = healthy volunteers:
- Suspected or diagnosed hEDS Joint hypermobility with a Beighton score ≥ 5 History of recurrent sprains and/or dislocations History of scoliosis requiring bracing or surgery Clinical cutaneous features suggestive of EDS or another connective tissue disorder Connective tissue-related skin disorders (hypertrophic or keloid scars, etc.) Fragility of other connective tissues in the body Diseases or conditions causing extracellular matrix (ECM) remodeling (tumors, inflammatory or allergic diseases, postoperative healing within the previous year) Pregnant or breastfeeding women Persons deprived of their liberty or under legal guardianship Persons unable to comply with the medical follow-up required for the study for geographical, social, or psychological reasons Persons not affiliated with the French social security system Inability to provide the participant with adequate information and/or inability of the participant to provide written informed consent: dementia, psychosis, impaired consciousness, non-French-speaking patients.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Thirteen types of EDS have been described based on their clinical manifestations and genetic backgrounds. Their diagnosis relies on personal and family medical history, together with established clinical criteria. A definitive diagnosis can then be confirmed through genetic testing. However, definitive diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS), the most common EDS subtype (>80% of cases), remains impossible because its molecular basis is still unknown.
The diagnosis of hEDS is based on a set of clinical criteria, some of which are subject to examiner interpretation. These criteria have limitations at the extremes of age and in mild or incomplete forms, potentially preventing a formal diagnosis. Patients may consequently experience a diagnostic odyssey and psychological distress, without recognition of their condition or access to appropriate management.
Read more
The diagnosis of hEDS is further complicated by the overlap between its clinical manifestations and those of Hypermobility Spectrum Disorders (HSD), which are relatively common in the general population (1-3%). HSD are also characterized by joint hypermobility, which may be complicated by joint instability and pain, but unlike hEDS, they are not associated with tissue fragility. There is therefore an urgent need to identify a reliable, simple, reproducible, and widely accessible diagnostic criterion to establish a diagnosis of hEDS in the large population of hypermobile patients.
Tenascin-X (TN-X) is a glycoprotein involved in the assembly of the ECM. One study showed that TN-X levels were reduced by 35% in 52% of hypermobile patients (9/17) compared with healthy controls. This finding suggests a possible association between serum TN-X levels and hEDS. However, no correlation has yet been investigated.
We hypothesize that serum TN-X levels could serve as a biological diagnostic criterion for hEDS.
- Conditions
- Ehlers-Danlos Syndromes (EDS)
- Being tested
- Blood sampling
- Keywords
- Ehlers-Danlos syndromes (EDS), Genetic disorders
- Medical subject headings
- Ehlers-Danlos Syndrome, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood samplingGenetic
Collection of blood samples (serum and whole blood) for TN-X concentration measurement
| Study group | Role | What they receive |
|---|---|---|
| Patients with hypermobile Ehlers-Danlos syndrome | Other | Collection of blood samples (serum and whole blood) during a follow-up visit as part of the participant's usual care for TN-X concentration measurement Receives: Genetic: Blood sampling |
| Control group (healthy volunteers) | Other | Collection of blood samples (serum and whole blood) for TN-X concentration measurement Receives: Genetic: Blood sampling |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measurement of TN-X concentration
Measurement of TN-X concentration (ng/mL) in serum from the experimental population (= patients with hypermobile Ehlers-Danlos syndrome [hEDS]) and the control population (= healthy volunteers), using a targeted quantitative proteomics approach based on mass spectrometry
We will assess the ability of the serum TN-X level to discriminate between patients with and without hEDS, classified according to the gold standard, using the area under the ROC curve, estimated as a point estimate and with a 95% confidence interval.
The diagnosis of hEDS, considered the gold standard, will be established according to the clinical criteria validated by the International Consortium on Ehlers-Danlos Syndromes [4,5], by a physician with expertise in this rare disease at the participating centers.
Measured: through study completion, an average of 1 year
Secondary outcomes (1)
Diagnostic threshold for serum TN-X levels for the diagnosis of hEDS
Diagnostic threshold for serum TN-X levels for the diagnosis of hEDS, determined using the Youden index on the same ROC curve.
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Oct 2026
- Study start1 Nov 2026 (estimated)
- Primary completion1 Nov 2027 (estimated)
- Study completion1 Mar 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ehlers-Danlos Syndromes (EDS)Studies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe 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
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 80 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Karelle Benistan, MD, Principal investigator, Assistance Publique - Hôpitaux de Paris
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07899554
- Sponsor's protocol ID
- APHP260912
- Acronym
- DIAGNOSEDh
- Status last verified
- Sep 2026
- First submitted
- 30 Sep 2026
- Last updated
- 27 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of the Role of Serum Tenascin-X Levels in the Diagnosis of Hypermobile Ehlers-Danlos Syndrome
- ClinicalTrials.gov ID
- NCT07899554
- Acronym / sponsor ID
- DIAGNOSEDh / APHP260912
- Conditions
- Ehlers-Danlos Syndromes (EDS)
- Keywords
- Ehlers-Danlos syndromes (EDS), Genetic disorders
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 80 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- 1 Nov 2026 (estimated)
- Primary completion
- 1 Nov 2027 (estimated)
- Study completion
- 1 Mar 2028 (estimated)
- First posted
- 27 Oct 2026 (actual)
- 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.
Thirteen types of EDS have been described based on their clinical manifestations and genetic backgrounds. Their diagnosis relies on personal and family medical history, together with established clinical criteria. A definitive diagnosis can then be confirmed through genetic testing. However, definitive diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS), the most common EDS subtype (>80% of cases), remains impossible because its molecular basis is still unknown.
The diagnosis of hEDS is based on a set of clinical criteria, some of which are subject to examiner interpretation. These criteria have limitations at the extremes of age and in mild or incomplete forms, potentially preventing a formal diagnosis. Patients may consequently experience a diagnostic odyssey and psychological distress, without recognition of their condition or access to appropriate management.
The diagnosis of hEDS is further complicated by the overlap between its clinical manifestations and those of Hypermobility Spectrum Disorders (HSD), which are relatively common in the general population (1-3%). HSD are also characterized by joint hypermobility, which may be complicated by joint instability and pain, but unlike hEDS, they are not associated with tissue fragility. There is therefore an urgent need to identify a reliable, simple, reproducible, and widely accessible diagnostic criterion to establish a diagnosis of hEDS in the large population of hypermobile patients.
Tenascin-X (TN-X) is a glycoprotein involved in the assembly of the ECM. One study showed that TN-X levels were reduced by 35% in 52% of hypermobile patients (9/17) compared with healthy controls. This finding suggests a possible association between serum TN-X levels and hEDS. However, no correlation has yet been investigated.
We hypothesize that serum TN-X levels could serve as a biological diagnostic criterion for hEDS.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients with hypermobile Ehlers-Danlos syndrome | Other | Genetic: Blood samplingCollection of blood samples (serum and whole blood) during a follow-up visit as part of the participant's usual care for TN-X concentration measurement |
| Control group (healthy volunteers) | Other | Genetic: Blood samplingCollection of blood samples (serum and whole blood) for TN-X concentration measurement |
Who may qualify
- Ages
- 18 to 60 years
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult
Key inclusion criteria (4 listed)
- hEDS diagnostic criteria according to the 2017 classification Female sex Age between 18 and 60 years
- Female sex Age between 18 and 60 years.
Key exclusion criteria (3 listed)
- Pregnant or breastfeeding women Persons deprived of their liberty or under legal guardianship Persons unable to comply with the medical follow-up required for the study for geographical, social, or psychological reasons Persons not affiliated with the French social security system Inability to provide the participant with adequate information and/or inability of the participant to provide written informed consent: dementia, psychosis, impaired consciousness, non-French-speaking patients
- Suspected or diagnosed hEDS Joint hypermobility with a Beighton score ≥ 5 History of recurrent sprains and/or dislocations History of scoliosis requiring bracing or surgery Clinical cutaneous features suggestive of EDS or another connective tissue disorder Connective tissue-related skin disorders (hypertrophic or keloid scars, etc.) Fragility of other connective tissues in the body Diseases or conditions causing extracellular matrix (ECM) remodeling (tumors, inflammatory or allergic diseases, postoperative healing within the previous year) Pregnant or breastfeeding women Persons deprived of their liberty or under legal guardianship Persons unable to comply with the medical follow-up required for the study for geographical, social, or psychological reasons Persons not affiliated with the French social security system Inability to provide the participant with adequate information and/or inability of the participant to provide written informed consent: dementia, psychosis, impaired consciousness, non-French-speaking patients.
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 |
|---|---|---|
| Blood samplingCollection of blood samples (serum and whole blood) for TN-X concentration measurement | Genetic | Control group (healthy volunteers), Patients with hypermobile Ehlers-Danlos syndrome |
Primary outcome
Measurement of TN-X concentration
Time frame: through study completion, an average of 1 year
Measurement of TN-X concentration (ng/mL) in serum from the experimental population (= patients with hypermobile Ehlers-Danlos syndrome [hEDS]) and the control population (= healthy volunteers), using a targeted quantitative proteomics approach based on mass spectrometry We will assess the ability of the serum TN-X level to discriminate between patients with and without hEDS, classified according to the gold standard, using the area under the ROC curve, estimated as a point estimate and with a 95% confidence interval. The diagnosis of hEDS, considered the gold standard, will be established according to the clinical criteria validated by the International Consortium on Ehlers-Danlos Syndromes [4,5], by a physician with expertise in this rare disease at the participating centers.
1 secondary outcome
Diagnostic threshold for serum TN-X levels for the diagnosis of hEDS
Time frame: through study completion, an average of 1 year
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Oct 2026.
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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.
Karelle Benistan, MD principal investigator
Assistance Publique - Hôpitaux de Paris
Questions about this trial
What is this clinical trial studying?
A study testing Blood sampling in people with Ehlers-Danlos Syndromes (EDS), run by Assistance Publique - Hôpitaux de Paris.
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 3 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: opening soon, as of the sponsor's last update on 27 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Karelle Benistan, MD (+33 (0)147104440, karelle.benistan@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Measurement of TN-X concentration (time frame: through study completion, an average of 1 year). 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 27 Oct 2026; AzTrials last refreshed its copy on 8 Nov 2026.