Immunopathology of Loeys-Dietz Syndrome

Plain-language summary

This study uses blood samples to examine immune-system-related features in people with Loeys-Dietz syndrome (a genetic connective tissue disorder). It enrolled patients aged 5 and older whose diagnosis was confirmed by a TGF-βR1 or R2 mutation, along with healthy volunteers. It was a study without a phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Completed

Sponsor

Hospices Civils de Lyon

Intervention

blood samples, blood samples

Start date

10/17/2022

Estimated completion

6/7/2023

Countries

France

Related genes

Locations

• Bron, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:

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.

Exclusion Criteria:

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.

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.