Ehlers-Danlos Syndromes (EDS)BASE SED-NVNCT07899489
CLINICAL AND BIOLOGICAL DATABASE OF PATIENTS WITH NON-VASCULAR EHLERS-DANLOS SYNDROMES
An observational study of Ehlers-Danlos Syndromes (EDS), run by Assistance Publique - Hôpitaux de Paris.
Trial summary
The Rare Disease Reference Center (CRMR) for Non-Vascular Ehlers-Danlos Syndromes (NV-EDS) at the Raymond Poincaré University Hospital provides diagnosis and care for patients with non-vascular Ehlers-Danlos syndrome. Read more about this study
- Who is it for?
- Ages 16 years and olderHealthy volunteers can take part
- Conditions the study is for
- Ehlers-Danlos Syndromes (EDS)
- How many people
- 3,500 participants
- Where
- No sites listed yet
- Study dates
- Nov 2026to Nov 2046
- Phase
- Observational
- 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 16 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: This is a retrospective and prospective cohort study. All patients diagnosed with SED-NV and followed up at the CRMR SED-NV unit at Raymond Poincaré Hospital may be included in this study.
Who may be able to join
- Age ≥ 16 years;
- Patients diagnosed with SED-NV who have been or are currently being treated at the SED-NV Regional Reference Center (CRMR SED-NV), Raymond Poincaré University Hospital (retrospective);
- Patients treated at the SED-NV Regional Reference Center (CRMR SED-NV), Raymond Poincaré University Hospital, with suspected or diagnosed SED-NV (prospective);
- Covered by health insurance or AME;
- Informed and having signed a written consent form;
- As applicable, an adult under legal guardianship with signed consent from their guardian.
Who cannot join
- Minor patient (age < 16);
- Patient and/or legal representative who has not given consent for the collection of clinical and biological data, or for the reclassification or use of their biological samples for research purposes;
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
Official title: Evaluation of the Role of Serum Tenascin-X Levels in the Diagnosis of Hypermobile Ehlers-Danlos Syndrome
The Rare Disease Reference Center (CRMR) for Non-Vascular Ehlers-Danlos Syndromes (NV-EDS) at the Raymond Poincaré University Hospital provides diagnosis and care for patients with non-vascular Ehlers-Danlos syndrome.
Thanks to its expertise in clinical care and research, this CRMR has been accredited by the Ministry of Health since 2017 and has served as the coordinator of the national network for NV-Ehlers-Danlos syndromes since 2023. It is part of the OSCAR healthcare network for rare diseases of the bone, calcium, and cartilage and is a member of the Paris-Saclay Rare Diseases Platform.
Read more
Due to the low prevalence of non-vascular Ehlers-Danlos syndromes (NV-EDS), prospective patient enrollment will not yield a sufficiently large number of samples for several years, making it difficult to study these conditions in detail. We therefore believe it is important to supplement this cohort retrospectively by including clinical data from patients followed since 2017, as well as biological data from clinical specimens that will be retrieved and reused for research purposes. The clinical data associated with the biological samples will help improve the diagnosis, management, and treatment of patients with SED-NV.
The clinical and biological data collected will enable the conduct of future research projects in collaboration with research units and partner laboratories of the CRMR SED-NV at the Raymond Poincaré University Hospital.
Read the detailed description
One of the benefits of these collections will be to address research challenges associated with rare diseases. Due to the low prevalence of SEDs, we currently lack the resources to initiate research projects. Nevertheless, a clinical and biological database will enable us to consider setting up larger-scale research projects in collaboration with research units partnered with the CRMR SED-NV. To establish a health database using samples obtained during clinical care, as well as by retrieving and reusing samples already collected during care for patients who have been followed since 2017, and to build a prospective biological collection by collecting samples during the routine follow-up of patients being monitored for SED-NV at the CRMR SED-NV at Raymond Poincaré Hospital.
- Unused residual DNA and RNA
- Collection of a minimal additional volume during routine clinical sample collection In addition, patients may have urine samples collected as part of their care; on these occasions, 10 ml of urine will be stored for research purposes.
Similarly, as part of their care, patients being treated for SED-NV may undergo a skin biopsy for fibroblast culture as part of the diagnostic process. Any remaining fibroblasts will then be stored for research.
In the event of surgery performed on a patient with SED (orthopedic, gastrointestinal, or cardiac), a tissue specimen considered waste and intended for disposal may be retained for research purposes.
- Conditions
- Ehlers-Danlos Syndromes (EDS)
- Keywords
- Genetic disorders, Ehlers-Danlos syndromes (EDS)
- Medical subject headings
- Ehlers-Danlos Syndrome, Genetic Diseases, Inborn
What is being measured
The primary outcome is the main question the study is designed to answer.
Specific criteria will be determined for each study conducted using the database.
The objective of this non-interventional study is to establish a database of patients with SED-NV who are receiving routine care. It aims to collect, both retrospectively and prospectively, biological and clinical data from patients treated at the SED-NV CRMR at Raymond Poincaré Hospital and to follow these patients over the long term in order to document the clinical course of the disease and the therapeutic strategies implemented.
This will help address the challenges posed by research into a rare disease with a low incidence. One of the major challenges is to study the clinical and biological biomarkers involved in the mechanisms of SED-NV.
Measured: from study star through study completion ( which is 20 years)
Secondary outcomes (1)
Specific criteria will be determined for each study conducted using the database
Clinical and biological data collected from patients with SED-NV will be described using appropriate descriptive statistics. Specific variables and analyses will depend on the research question addressed in each study conducted using the database.
Measured: from study star through study completion ( which is 20 years)
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 startNov 2026 (estimated)
- Primary completionNov 2046 (estimated)
- Study completionNov 2046 (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
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 3,500 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
- NCT07899489
- Sponsor's protocol ID
- APHP260229
- Other IDs
- 2026-A00493-48
- Acronym
- BASE SED-NV
- 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
- NCT07899489
- Acronym / sponsor ID
- BASE SED-NV / APHP260229
- Conditions
- Ehlers-Danlos Syndromes (EDS)
- Keywords
- Genetic disorders, Ehlers-Danlos syndromes (EDS)
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 3,500 participants (estimated)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Nov 2026 (estimated)
- Primary completion
- Nov 2046 (estimated)
- Study completion
- Nov 2046 (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.
The Rare Disease Reference Center (CRMR) for Non-Vascular Ehlers-Danlos Syndromes (NV-EDS) at the Raymond Poincaré University Hospital provides diagnosis and care for patients with non-vascular Ehlers-Danlos syndrome.
Thanks to its expertise in clinical care and research, this CRMR has been accredited by the Ministry of Health since 2017 and has served as the coordinator of the national network for NV-Ehlers-Danlos syndromes since 2023. It is part of the OSCAR healthcare network for rare diseases of the bone, calcium, and cartilage and is a member of the Paris-Saclay Rare Diseases Platform.
Due to the low prevalence of non-vascular Ehlers-Danlos syndromes (NV-EDS), prospective patient enrollment will not yield a sufficiently large number of samples for several years, making it difficult to study these conditions in detail. We therefore believe it is important to supplement this cohort retrospectively by including clinical data from patients followed since 2017, as well as biological data from clinical specimens that will be retrieved and reused for research purposes. The clinical data associated with the biological samples will help improve the diagnosis, management, and treatment of patients with SED-NV.
The clinical and biological data collected will enable the conduct of future research projects in collaboration with research units and partner laboratories of the CRMR SED-NV at the Raymond Poincaré University Hospital.
Detailed description
One of the benefits of these collections will be to address research challenges associated with rare diseases. Due to the low prevalence of SEDs, we currently lack the resources to initiate research projects. Nevertheless, a clinical and biological database will enable us to consider setting up larger-scale research projects in collaboration with research units partnered with the CRMR SED-NV. To establish a health database using samples obtained during clinical care, as well as by retrieving and reusing samples already collected during care for patients who have been followed since 2017, and to build a prospective biological collection by collecting samples during the routine follow-up of patients being monitored for SED-NV at the CRMR SED-NV at Raymond Poincaré Hospital.
- Unused residual DNA and RNA
- Collection of a minimal additional volume during routine clinical sample collection In addition, patients may have urine samples collected as part of their care; on these occasions, 10 ml of urine will be stored for research purposes.
Similarly, as part of their care, patients being treated for SED-NV may undergo a skin biopsy for fibroblast culture as part of the diagnostic process. Any remaining fibroblasts will then be stored for research.
In the event of surgery performed on a patient with SED (orthopedic, gastrointestinal, or cardiac), a tissue specimen considered waste and intended for disposal may be retained for research purposes.
Study design
- Observational model
- Cohort
- Time perspective
- Other
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This is a retrospective and prospective cohort study. All patients diagnosed with SED-NV and followed up at the CRMR SED-NV unit at Raymond Poincaré Hospital may be included in this study.
Key inclusion criteria (6 listed)
- Age ≥ 16 years;
- Patients diagnosed with SED-NV who have been or are currently being treated at the SED-NV Regional Reference Center (CRMR SED-NV), Raymond Poincaré University Hospital (retrospective);
- Patients treated at the SED-NV Regional Reference Center (CRMR SED-NV), Raymond Poincaré University Hospital, with suspected or diagnosed SED-NV (prospective);
- Covered by health insurance or AME;
- Informed and having signed a written consent form;
Key exclusion criteria (2 listed)
- Minor patient (age < 16);
- Patient and/or legal representative who has not given consent for the collection of clinical and biological data, or for the reclassification or use of their biological samples for research purposes;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Specific criteria will be determined for each study conducted using the database.
Time frame: from study star through study completion ( which is 20 years)
The objective of this non-interventional study is to establish a database of patients with SED-NV who are receiving routine care. It aims to collect, both retrospectively and prospectively, biological and clinical data from patients treated at the SED-NV CRMR at Raymond Poincaré Hospital and to follow these patients over the long term in order to document the clinical course of the disease and the therapeutic strategies implemented. This will help address the challenges posed by research into a rare disease with a low incidence. One of the major challenges is to study the clinical and biological biomarkers involved in the mechanisms of SED-NV.
1 secondary outcome
Specific criteria will be determined for each study conducted using the database
Time frame: from study star through study completion ( which is 20 years)
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?
An observational study of 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 6 inclusion and 2 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 ext. 0147104440, karelle.benistan@aphp.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Specific criteria will be determined for each study conducted using the database. (time frame: from study star through study completion ( which is 20 years)). 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.