Autoimmune Lymphoproliferative SyndromeATRACTionNCT04902807
Conception of a Diagnosis, Prognosis and Therapeutic Decision Tool for Patients With Autoimmunity and Inflammation
An observational study of Autoimmune Lymphoproliferative Syndrome and Autoimmune Cytopenia, run by Institut National de la Santé Et de la Recherche Médicale, France at 1 site in France.
Trial summary
The main objective of this study is to generate diagnosis and therapeutic-decision tools through the identification of molecular causes of PIDs with autoimmunity/inflammation and the variability in disease outcome at the transcriptional level using a combination of omics signatures (transcriptomics, epigenomics… Read more about this study
- Who is it for?
- Ages 1 year to 18 years
- Conditions the study is for
- Autoimmune Lymphoproliferative Syndrome, Autoimmune Cytopenia, Autoimmune Diseases
- What is being tested?
- Collection of samples
- How many people
- 325 participants
- Where
- 1 siteFrance
- Study dates
- 7 Sep 2021to 21 Oct 2025
- Phase
- Observational
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 1 year to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients with PIDs and autoimmunity/inflammation related to known and unknown genetic defects (ALPS, Cytopenia, Enteropathy-IBD, pSLE, JIA, FHL, CA-EBV, CID) and their healthy relatives (controls) will be recruited in 2 clinical services of Necker hospital: Paediatric Rhumatology Immuno Hematology department Department, and paediatric Paediatric Gastroenterology department Department. Unrelated controls will be recruited in the Paediatric Rhumatology Immuno Hematology Department, the Paediatric Gastroenterology Department,also be recruited in the Department of Paediatric Visceral and Urologic Surgery and the Department of Maxillofacial Surgery and Paediatric Plastic Surgery within patients hospitalised for a surgery and not affected by an immune-related disease or a cancer.
Who may be able to join
- Individuals with health insurance.
- Patients treated at Necker hospital with PIDs and autoimmunity/inflammation related to known genetic defects (cytopenia, Enteropathy Inflammatory bowel disease (IBD), Systemic Lupus Erythematosus (SLE), Juvenile Idiopathic Arthritis (JIA), Familial Hemophagocytic Lymphohistiocytosis (FHL), chronic EBV infection associated (Ca-EBV) with EBV-infected T and/or Natural Killer (NK) cells and with a high risk to develop macrophage activation syndrome similar to FHL. See table below for diagnosis inclusion criteria.
- Individuals aged<18 y/o.
- Individuals > 9 kg
- Patients whose parents have signed an enlightened consent.
Who cannot join
- Intake of antibiotics within 2 weeks prior inclusion
- 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
Trial locations and contacts
1 site in 1 country.
About this study
The main objective of this study is to generate diagnosis and therapeutic-decision tools through the identification of molecular causes of PIDs with autoimmunity/inflammation and the variability in disease outcome at the transcriptional level using a combination of omics signatures (transcriptomics, epigenomics, proteomics, metagenomics, metabolomics and lipidomics).
Read the detailed description
Primary Immune deficiencies (PIDs) are a group of monogenic diseases related to developmental or functional dysfunction of one or several immune cell types. Individually there are rare entities, but collectively they group several thousands of patients.
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
- Autoimmune Lymphoproliferative Syndrome, Autoimmune Cytopenia, Autoimmune Diseases, Autoimmune Anemia, Autoimmune Thrombocytopenia, Autoimmune Hepatitis
- Being tested
- Collection of samples
- Medical subject headings
- Autoimmune Lymphoproliferative Syndrome, Autoimmune Diseases, Purpura, Thrombocytopenic, Idiopathic, Hepatitis, Autoimmune, Diabetes Mellitus, Type 1, Lupus Erythematosus, Systemic, Arthritis, Juvenile, Lymphohistiocytosis, Hemophagocytic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Collection of samplesBiological
Blood, Urine and Stool samples will be collected from the participants.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Biological: Collection of samples | |
| Patients' relatives (control) | Brothers or sisters of the patients (n=125). Collection of blood, urine and stools at inclusion. Receives: Biological: Collection of samples | |
| 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. Receives: Biological: Collection of samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Generate a diagnosis and therapeutic-decision tools
Identification of molecular causes of PIDs with autoimmunity/inflammation and the variability in disease outcome at the transcriptional level using a combination of omics signatures (transcriptomic, epigenomics, proteomic, metagenomic, metabolomics and lipidomics).
Measured: 5 years
Secondary outcomes (3)
1- Development of an atlas of molecular interactions leading to autoimmunity and inflammation
Research tool integrating transcriptomic, proteomic, epigenetic, metabolomic and lipidomics data of pediatric affected patients as well as healthy pediatric individuals This atlas will be available widely to the public and private research community.
Measured: 5 years
2 - To develop an artificial intelligent online application
The decision support tool will be interoperable with any clinical information system and will be clinically validated.
Measured: 5 years
3- Ancillary study (pilot study)
- Validation of candidate biomarkers associated to diagnosis and prognosis of Juvenile Idiopathic Arthritis patients ; ii. Definition of a specific clinical outcome and early quantification of the performance of a diagnostic decision tool based on omics signatures (proof of concept)
Measured: 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 May 2021
- Study start7 Sep 2021
- Primary completion14 May 2025
- Study completion21 Oct 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autoimmune Lymphoproliferative SyndromeStudies of the same condition, open and under way.
- More trials run by Institut National de la Santé Et de la Recherche Médicale, FranceThe 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
- Prospective
- Enrolment
- 325 participants (actual)
Sponsor and investigators
- Sponsor type
- Other government
- Responsible party
- Sponsor
- Investigators
- Frédéric Rieux-Laucat, Principal investigator, Institut Imagine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04902807
- Sponsor's protocol ID
- C20-59
- Acronym
- ATRACTion
- Status last verified
- Sep 2025
- First submitted
- 21 May 2021
- Last updated
- 18 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided