Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
NCT ID: NCT04902807
Last Updated: 2025-09-08
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
500 participants
OBSERVATIONAL
2021-09-07
2026-06-30
Brief Summary
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Detailed Description
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Approximately 500 000 patients suffer from PIDs worldwide, making their management a true health-care concern. According to European Society for Immunodeficiencies (ESID), the age group in which PIDs is most frequently diagnosed is under 19 years of age (62%)1. PIDs are causing susceptibility to severe and life-threatening infections by common pathogens, but they also predispose to cancer and can initially manifest as autoimmune and inflammatory diseases.
Multiple mechanisms underlie the development of autoimmunity/inflammation in PIDs. Moreover, their development can be influenced by the composition of the microbiota, which shapes host metabolic and immune functions and can be modified by many environmental factors. In the last two decades a particular emphasis was given to the elucidation of the genomic mutations causing PIDs. This led to a burst of genetic diagnosis as the numbers of known monogenic causes of PIDs rose from around 200 in 2010 to more than 310 in 2017. These genomic approaches revealed that: 1) a given monogenic defect can lead to very dissimilar clinical presentations, disproving the initial concept that a monogenic defect is associated with specific clinical manifestations ; and 2) the number of cases of autosomal dominant genetic deficiencies has increased, with sometimes a partial clinical penetrance so that some relatives carrying the causal genetic variant remain asymptomatic. Hence, onset and presentation of autoimmune and inflammatory diseases in PIDs is highly unpredictable.
PIDs with autoimmunity/inflammation usually require life-long symptomatic treatments including broad immunosuppression or immunotherapies. On the long term, such treatments can have important side effects or poor efficacy and they result in high burden cost. It is therefore crucial to diagnose PIDs as early as possible in order to select the most efficient therapy based not only on clinical features as it is nowadays, but to include the underlying molecular cause of immune dysregulation.
The central goal of this project is to explain the very variable outcome of monogenic autoimmune and inflammatory diseases and to define predictive biomarkers in order to stratify patients and to optimize therapeutic choices.
Conditions
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Study Design
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COHORT
PROSPECTIVE
Study Groups
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Patients
based on the potential for inclusion of patient's cohort followed in Necker hospital with PIDs and poly-autoimmunity related to known genetic defects. Recruitments will be made at Pediatric Rheumatology Immuno Hematology department, and paediatric Gastroenterology department (n=250).
Collection of blood, urine and stools at inclusion and blood at 12 months consultation/ follow-up.
Collection of samples
Blood, Urine and Stool samples will be collected from the participants.
Patients' relatives (control)
Brothers or sisters of the patients (n=125). Collection of blood, urine and stools at inclusion.
Collection of samples
Blood, Urine and Stool samples will be collected from the participants.
Patients with unrelated diseases (control)
Recruitments will be made at the Paediatric Gastroenterology Department, in the Department of Paediatric Visceral and Urologic Surgery and the Department of Maxillofacial Surgery and Paediatric Plastic Surgery at Necker's Hospital. Participants will be included if not diagnosed PIDs and poly-autoimmunity (n=125).
Collection of blood, urine and stools.
Collection of samples
Blood, Urine and Stool samples will be collected from the participants.
Interventions
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Collection of samples
Blood, Urine and Stool samples will be collected from the participants.
Eligibility Criteria
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Inclusion Criteria
* Individuals \> 6 kg
* Individuals not affected by an immune-related disease or not affected by cancer
* Individuals whose parents have signed an enlightened consent.
* Individuals with health insurance.
* Individuals aged\<18 y/o.
* Individuals \> 9 kg
* Patients whose parents have signed an enlightened consent.
Exclusion Criteria
* Absence of parent's or child consent form
* Cytotoxic cancer treatments
* antiviral treatments (HIV, hepatitis …)
* Short term life-threatening conditions
* Individuals placed under judicial protection
1 Year
18 Years
ALL
No
Sponsors
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Institut National de la Santé Et de la Recherche Médicale, France
OTHER_GOV
Responsible Party
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Principal Investigators
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Frédéric Rieux-Laucat
Role: PRINCIPAL_INVESTIGATOR
Institut Imagine
Locations
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hôpital Necker Enfants Malades
Paris, , France
Countries
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Central Contacts
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Facility Contacts
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Rieux-Laucat Frederic
Role: primary
Related Links
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Website of the research study
Other Identifiers
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C20-59
Identifier Type: -
Identifier Source: org_study_id
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