Loeys-Dietz SyndromeI-LoDiSNCT05472519
Immunopathology of Loeys-Dietz Syndrome
A study testing blood samples in people with Loeys-Dietz Syndrome, run by Hospices Civils de Lyon at 1 site in France.
Trial summary
Loeys-Dietz syndrome (LDS) is a rare vascular genetic disorder (estimated prevalence 1/25,000-1/100,000) due primarily to mutations in the Transforming growth factor beta (TGF-β) cytokine receptor 1 and 2 genes. Read more about this study
- Who is it for?
- Ages 5 to 86 yearsHealthy volunteers can take part
- Conditions the study is for
- Loeys-Dietz Syndrome
- What is being tested?
- blood samples
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 60 participants
- Where
- 1 siteFrance
- Study dates
- 17 Oct 2022to 7 Jun 2023
- 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 5 to 86 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- For patients with Loeys-Dietz syndrome:
- Patients aged ≥ 5 years with Loeys-Dietz syndrome with a diagnosis confirmed by the presence of a TGF-βR 1 or R2 mutation known to be pathogenic to patients.
- Free, informed and signed consent from the patient or both parents or legal guardians for minor patients.
- Patient affiliated to a social security system or similar.
- For healthy volunteers:
- Subjects aged ≥ 5 years.
- Free, informed and signed consent of the witness, or if applicable of both parents or legal representatives for minors.
- Patient affiliated to a social security system or similar.
Who cannot join
- For patients with Loeys-Dietz syndrome:
- Patient with an evolving or recently healed (< 3 months) cancer that could alter the immunologic profile.
- Patient with an evolving or recently healed (< 3 months) infection that could alter the immunologic profile.
- Patient with a weight of less than 20 kg.
- Pregnant woman.
- Patient participating in another research study with an exclusion period exclusion period still in progress.
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- For healthy volunteers:
- Subject with an active or recently cured (< 3 months) cancer that could alter the immunologic profile.
- Subject with an active or recently healed (< 3 months) infection that could alter the immunological profile.
- Patient with a weight of less than 20 kg.
- Pregnant woman.
- Subject participating in another research study with an exclusion period exclusion period still in progress.
- Persons under court protection.
Trial locations and contacts
1 site in 1 country.
France1 site
Hôpital Femme-Mère-Enfant / Centre de Compétences pour le syndrome de Marfan et apparentés
Bron, 69677
About this study
Loeys-Dietz syndrome (LDS) is a rare vascular genetic disorder (estimated prevalence 1/25,000-1/100,000) due primarily to mutations in the Transforming growth factor beta (TGF-β) cytokine receptor 1 and 2 genes. In addition to a common vascular phenotype with Marfan syndrome (dilatation of the ascending aorta, arachnodactyly, lens dislocation), patients present specific malformations (bifid uvula, hypertelorism, tortuous arteries) and immuno-allergic manifestations (asthma, eczema, food allergy, eosinophilic esophagitis, chronic inflammatory bowel disease).
Pathophysiologically, LDS appears to be associated with hyperactivation of the intracellular TGF-β signaling pathway in a manner similar to Marfan syndrome, as evidenced by increased intracellular phosphorylated Smad2/3 (pSmad2/3) in lymphocytes. The immuno-allergic complications appear paradoxical because of the major immunosuppressive role of this cytokine on lymphoid and myeloid immune lineages.
Read more
The biological description of immunological abnormalities associated with LDS is based on a single 2013 study that found increased regulatory T (Treg) and Th2 lymphocyte polarizations, as well as increased circulating eosinophil and total IgE levels.
In order to better understand the underlying mechanisms, the investigators propose to perform a descriptive clinical-biological study to identify and study the immune subpopulations most impacted by the causative mutations of LDS.
- Conditions
- Loeys-Dietz Syndrome
- Being tested
- blood samples
- Keywords
- Loeys-Dietz Syndrome, immunology, T-Lymphocytes
- Medical subject headings
- Loeys-Dietz Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood samplesBiological
Only one visit for each participant: A large majority of visits will be part of patients' usual care.
- Medical examination : weight, gender, blood pressure, medical history
- Blood samples : 1 EDTA tube (3 mL) for CBC, 3 heparin tubes (3 × 7 mL) for frozen PBMC, 1 EDTA tube (3 mL) for frozen plasma
blood samplesBiological
Only one visit for each participant:
- Medical examination : weight, gender, blood pressure, medical history
- Blood samples : 1 EDTA tube (3 mL) for CBC, 3 heparin tubes (3 × 7 mL) for frozen PBMC, 1 EDTA tube (3 mL) for frozen plasma
| Study group | Role | What they receive |
|---|---|---|
| Loeys-Dietz syndrome | Other | Patients aged ≥ 5 years with Loeys-Dietz syndrome with a diagnosis confirmed by the presence of a TGF-βR 1 or R2 mutation. Receives: Biological: blood samples |
| Healthy Group | Other | Subjects aged ≥ 5 years. Receives: Biological: blood samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Percentage of circulating TFH lymphocyte subpopulation.
Measured from the Blood samples of each patients / volunteers.
Measured: Day 1
Secondary outcomes (5)
Intracellular pSmad2/3 labeling level of circulating TFH lymphocytes.
Measured from the Blood samples of each patients / volunteers.
Measured: Day 1
Identification of Immuno-allergic pathologies
Identification of Immuno-allergic, serious infectious pathologies (diagnostic criteria, severity criteria, treatment, current activity) in LDS patients.
Measured: Day 1
Identification of serious infectious pathologies
Identification of serious infectious pathologies (diagnostic criteria, severity criteria, treatment, current activity) in LDS patients.
Measured: Day 1
Identification of Vascular complications
Identification of Vascular, morpho-skeletal complications (diagnostic criteria, severity criteria, treatment, current activity) current course) in patients with LDS.
Measured: Day 1
Identification morpho-skeletal complications
Identification of morpho-skeletal complications (diagnostic criteria, severity criteria, treatment, current activity) current course) in patients with LDS.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted25 Jul 2022
- Study start17 Oct 2022
- Primary completion7 Jun 2023
- Study completion7 Jun 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Loeys-Dietz SyndromeStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe 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
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 60 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05472519
- Sponsor's protocol ID
- 69HCL22_0016
- Acronym
- I-LoDiS
- Status last verified
- Jun 2023
- First submitted
- 30 Jun 2022
- Last updated
- 9 Jun 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 9 Jun 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Immunopathology of Loeys-Dietz Syndrome
- ClinicalTrials.gov ID
- NCT05472519
- Acronym / sponsor ID
- I-LoDiS / 69HCL22_0016
- Conditions
- Loeys-Dietz Syndrome
- Keywords
- Loeys-Dietz Syndrome, immunology, T-Lymphocytes
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 60 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 17 Oct 2022 (actual)
- Primary completion
- 7 Jun 2023 (actual)
- Study completion
- 7 Jun 2023 (actual)
- First posted
- 25 Jul 2022 (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.
Loeys-Dietz syndrome (LDS) is a rare vascular genetic disorder (estimated prevalence 1/25,000-1/100,000) due primarily to mutations in the Transforming growth factor beta (TGF-β) cytokine receptor 1 and 2 genes. In addition to a common vascular phenotype with Marfan syndrome (dilatation of the ascending aorta, arachnodactyly, lens dislocation), patients present specific malformations (bifid uvula, hypertelorism, tortuous arteries) and immuno-allergic manifestations (asthma, eczema, food allergy, eosinophilic esophagitis, chronic inflammatory bowel disease).
Pathophysiologically, LDS appears to be associated with hyperactivation of the intracellular TGF-β signaling pathway in a manner similar to Marfan syndrome, as evidenced by increased intracellular phosphorylated Smad2/3 (pSmad2/3) in lymphocytes. The immuno-allergic complications appear paradoxical because of the major immunosuppressive role of this cytokine on lymphoid and myeloid immune lineages.
The biological description of immunological abnormalities associated with LDS is based on a single 2013 study that found increased regulatory T (Treg) and Th2 lymphocyte polarizations, as well as increased circulating eosinophil and total IgE levels.
In order to better understand the underlying mechanisms, the investigators propose to perform a descriptive clinical-biological study to identify and study the immune subpopulations most impacted by the causative mutations of LDS.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Loeys-Dietz syndrome | Other | Biological: blood samplesPatients aged ≥ 5 years with Loeys-Dietz syndrome with a diagnosis confirmed by the presence of a TGF-βR 1 or R2 mutation. |
| Healthy Group | Other | Biological: blood samplesSubjects aged ≥ 5 years. |
Who may qualify
- Ages
- 5 to 86 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (8 listed)
- Patients aged ≥ 5 years with Loeys-Dietz syndrome with a diagnosis confirmed by the presence of a TGF-βR 1 or R2 mutation known to be pathogenic to patients.
- Free, informed and signed consent from the patient or both parents or legal guardians for minor patients.
- Patient affiliated to a social security system or similar.
- Subjects aged ≥ 5 years.
- Free, informed and signed consent of the witness, or if applicable of both parents or legal representatives for minors.
Key exclusion criteria (13 listed)
- Patient with an evolving or recently healed (< 3 months) cancer that could alter the immunologic profile.
- Patient with an evolving or recently healed (< 3 months) infection that could alter the immunologic profile.
- Patient with a weight of less than 20 kg.
- Pregnant woman.
- Patient participating in another research study with an exclusion period exclusion period still in progress.
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 samplesOnly one visit for each participant: A large majority of visits will be part of patients' usual care. * Medical examination : weight, gender, blood pressure, medical history * Blood samples : 1 EDTA tube (3 mL) for CBC, 3 heparin tubes (3 × 7 mL) for frozen PBMC, 1 EDTA tube (3 mL) for frozen plasma | Biological | Healthy Group, Loeys-Dietz syndrome |
| blood samplesOnly one visit for each participant: * Medical examination : weight, gender, blood pressure, medical history * Blood samples : 1 EDTA tube (3 mL) for CBC, 3 heparin tubes (3 × 7 mL) for frozen PBMC, 1 EDTA tube (3 mL) for frozen plasma | Biological | Healthy Group, Loeys-Dietz syndrome |
Primary outcome
Percentage of circulating TFH lymphocyte subpopulation.
Time frame: Day 1
Measured from the Blood samples of each patients / volunteers.
5 secondary outcomes
Intracellular pSmad2/3 labeling level of circulating TFH lymphocytes.
Time frame: Day 1
Identification of Immuno-allergic pathologies
Time frame: Day 1
Identification of serious infectious pathologies
Time frame: Day 1
Identification of Vascular complications
Time frame: Day 1
Identification morpho-skeletal complications
Time frame: Day 1
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Jun 2023.
- Individual participant dataSharing planned: Undecided
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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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood samples in people with Loeys-Dietz Syndrome, run by Hospices Civils de Lyon 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 8 inclusion and 13 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: finished, as of the sponsor's last update on 9 Jun 2023. 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 is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
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?
Percentage of circulating TFH lymphocyte subpopulation. (time frame: Day 1). 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 9 Jun 2023.