Systemic LupusGENIALIINCT06435468
Biocollection of Rare Pediatric-onset of Autoimmune and Autoinflammatory Diseases
A study testing Blood sample for genetic analysis, Blood sample for immunological response assessments and Blood sample to identify relevant biomarker of the disease in people with Systemic Lupus and Autoimmune Diseases, run by Hospices Civils de Lyon at 13 sites in France.
Trial summary
Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Read more about this study
- Who is it for?
- Ages 1 year and olderHealthy volunteers can take part
- Conditions the study is for
- Systemic Lupus, Autoimmune Diseases, Autoinflammatory Disease
- What is being tested?
- Blood sample for genetic analysis, Blood sample for immunological response assessments and Blood sample to identify relevant biomarker of the disease
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 400 participants
- Where
- 13 sitesFrance
- Study dates
- 26 Feb 2025to 27 Jul 2035
- Phase
- Interventional
- 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 1 year and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Patients
- minor or adult patient of any age with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (<18 years), or syndromic or familial
- relative of a minor or adult patient with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (<18 years of age) or syndromic or familial,
- weight greater than 5 kg
- Patient/parents/guardians who were informed of the study and signed the consent form.
- patient affiliated to a social security scheme
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- Healthy volunteer participants
- minor or adult participants with no age restrictions
- weight over 5 kg
- Subject /Parents/guardians who were informed of the study and signed a consent form.
- Patient affiliated to a social security scheme
Who cannot join
- Patients
- Subjects /Parents/guardians, refusing to participate in the study
- Healthy volunteer participants :
- active infection (viral, bacterial, parasitic)
- history of neoplasia (< 5 years) or current neoplasia
- participants with a personal or family history of autoimmune disease
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- immunocompromised participant (immune deficiency or transplant recipient)
- Subjects/parents/guardians refusing to participate in the study
- Adults under legal protection (guardianship, curatorship)
Trial locations and contacts
13 sites in 1 country. Contact the study team or a site near you to ask about taking part.
13 sites in 1 country
France13 sites, 13 recruiting
- Recruiting
Service de rhumatologie pédiatrique Hôpital Femme-Mère-enfant
Bron, Bron, 69500
BELOT Alexandre, Pr
- Not yet recruiting
Hôpital Couple Enfant
Grenoble, 38043
PAGNIER Anne, MD, apagnier@chu-grenoble.fr
- Not yet recruiting
Hôpital Jeanne de Flandre (CHU de Lille)
Lille, Lille, 59000
REUMAUX Héloïse, MD, Heloise.REUMAUX@chu-lille.fr
- Not yet recruiting
Hôpital Claude Huriez (CHU de Lille)
Lille, Lille, 59037
HACHULLA Éric, MD, PhD, eric.hachulla@chru-lille.fr
- Not yet recruiting
Hôpital Archet 2
Nice, Nice, 06200
DE GUILLEBON DE RESNES Jean-Marie, MD, de-guillebon-de-resnes.jm@chu-nice.fr
- Not yet recruiting
Hôpital Necker-Enfants Malades (AP-HP)
Paris, Paris, 75015
Bader-Meunier Brigitte, MD, brigitte.bader-meunier@aphp.fr
- Not yet recruiting
Hôpital Robert Debré (AP-HP)
Paris, Paris, 75935 Paris
Meinzer Ulrich, MD, PhD, ulrich.meinzer@aphp.fr
- Not yet recruiting
Hôpital Kremlin-Bicêtre (AP-HP)
Paris, Paris, 94270
Koné-Paut Isabelle, MD, PhD
- Recruiting
Dr Isabelle MELKI
Paris, 75012
MELKI Isabelle, 00331 44 73 64 88, isabelle.melki@aphp.fr
- Not yet recruiting
CLCC Henri Becquerel
Rouen, 76038
JARDIN Fabrice, MD, PhD, fabrice.jardin@chb.unicancer.fr
- Not yet recruiting
Hôpital Nord (CHU ST-Etienne)
Saint-Etienne, Saint Etienne
Franck Zekré, MD, Franck.ZEKRE@chu-st-etienne.fr
- Recruiting
Pr Ariane ZALOSZYC
Strasbourg
ZALOSZYC Ariane, ariane.zaloszyc@chru-strasbourg.fr
- Recruiting
Dr Vanessa Remy-Piccolo
Villefranche-sur-Saône
Remy-Piccolo Vanessa, vremypiccolo@hno.fr
About this study
Official title: Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases
Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges.
This study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.
Read the detailed description
A disease is said to be "rare" when it affects one person in 2,000, which represents three million people in France. Most rare diseases (80%) are genetic in origin ; the earlier they start in childhood, the more severe they can be. Rare pediatric diseases include autoimmune diseases (systemic lupus, juvenile dermatomyositis and juvenile idiopathic arthritis) and autoimmune diseases (interferonopathies, FMF, CAPS, TRAPS, and DADA2). Systemic autoimmune diseases are characterized by an inappropriate adaptive immune response (mediated by autoreactive T and/or B lymphocytes) with the production of autoantibodies directed against the constituents of the self (tolerance breakdown). Autoinflammatory diseases, unlike autoimmune diseases, correspond to an excess in the innate immune response (cytokines, macrophages, NK cells, granulocytes, etc.)..The precise pathophysiological mechanisms of these diseases have yet to be fully elucidated. Recent research has led to advances in the diagnosis and identification of monogenic forms of these diseases, particularly in early onset, familial, and syndromic forms. Nevertheless, the rarity of these diseases and limited availability of biological samples are major challenges that need to be overcome.
Thus, the aims of this study were as follows:
- The creation of a biological collection: primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, which, through various research projects, will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases.
- Being tested
- Blood sample for genetic analysis, Blood sample for immunological response assessments, Blood sample to identify relevant biomarker of the disease
- Keywords
- Systemic Lupus, Genetic, rare autoimmune disease, rare autoinflammatory diseases, Pediatric-onset disease
- Medical subject headings
- Autoimmune Diseases, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sample for genetic analysisGenetic
genetic analysis (WES, WGS) for the identification of germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood
Blood sample for immunological response assessmentsOther
Identifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases
Blood sample to identify relevant biomarker of the diseaseOther
Research biomarkers for diagnosis, prognosis and monitoring of disease activity
| Study group | Role | What they receive |
|---|---|---|
| Patient with with a rare dysimmune disease | Experimental | minors or adults of any age with a rare dysimmune disease characterized by autoimmunity, autoinflammation or early lymphoproliferation, with onset in childhood (<18 years), or syndromic or familial. Receives: Genetic: Blood sample for genetic analysis; Other: Blood sample for immunological response assessments; Other: Blood sample to identify relevant biomarker of the disease |
| Healthy volunteer participants | Other | minor or adult participant without age restriction weighing more than 5 kg Receives: Other: Blood sample for immunological response assessments; Other: Blood sample to identify relevant biomarker of the disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
To Identify germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood
Identification of germline or somatic genetic mutations, based on high-throughput sequencing data (exome, genome or transcriptome).
Measured: Baseline
Secondary outcomes (6)
Measurement of disease activity according to Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)
score (Min value: 0 - Max value: 105), with higher values mean higher disease activity
Measured: Baseline
Levels of anti-double stranded DNA
in patients sera
Measured: Baseline
Levels of complement components C3 and C4
in patients sera
Measured: Baseline
Level of IFN Signature score
Mesured by 6-gene Type 1 IFN Signature Score
Measured: Baseline
Concentration of circulating IFN-alpha
In serum using single-molecule array digital ELISA technology (Simoa)
Measured: Baseline
Presence or absence of anti-type I interferons autoantibodies
in patients sera
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 May 2024
- Study start26 Feb 2025
- Primary completion27 Feb 2035 (estimated)
- Study completion27 Jul 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Systemic LupusStudies 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
- Model description
- prospective, multicenter, national study
- Masking
- None (open label)
- Enrolment
- 400 participants (estimated)
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
- NCT06435468
- Sponsor's protocol ID
- 69HCL23_1252
- Acronym
- GENIALII
- Status last verified
- Dec 2025
- First submitted
- 7 May 2024
- Last updated
- 22 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Biocollection for the Study of Genetic and Immunological Abnormalities in Rare Pediatric-onset Autoimmune and Auto Inflammatory Diseases
- ClinicalTrials.gov ID
- NCT06435468
- Acronym / sponsor ID
- GENIALII / 69HCL23_1252
- Keywords
- Systemic Lupus, Genetic, rare autoimmune disease, rare autoinflammatory diseases, Pediatric-onset disease
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 26 Feb 2025 (actual)
- Primary completion
- 27 Feb 2035 (estimated)
- Study completion
- 27 Jul 2035 (estimated)
- First posted
- 30 May 2024 (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.
Rare diseases are defined as those that affect one person in 2,000, or around three million people in France. The majority of rare diseases are caused by genetics and tend to be severe when they begin in childhood. Autoimmune and autoinflammatory diseases, such as systemic lupus, juvenile dermatomyositis, and juvenile idiopathic arthritis, are examples of rare pediatric diseases. While autoimmune diseases are characterized by an inappropriate adaptive immune response, autoinflammatory diseases involve an excess of the innate immune response. The precise mechanisms of these diseases are not yet fully understood, but recent research has led to advances in their diagnosis and identification, particularly in early onset and familial forms. However, the rarity of these diseases and limited availability of biological samples pose significant challenges.
This study aims to create a biological collection, which includes primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, that will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases through various research projects.
Detailed description
A disease is said to be "rare" when it affects one person in 2,000, which represents three million people in France. Most rare diseases (80%) are genetic in origin ; the earlier they start in childhood, the more severe they can be. Rare pediatric diseases include autoimmune diseases (systemic lupus, juvenile dermatomyositis and juvenile idiopathic arthritis) and autoimmune diseases (interferonopathies, FMF, CAPS, TRAPS, and DADA2). Systemic autoimmune diseases are characterized by an inappropriate adaptive immune response (mediated by autoreactive T and/or B lymphocytes) with the production of autoantibodies directed against the constituents of the self (tolerance breakdown). Autoinflammatory diseases, unlike autoimmune diseases, correspond to an excess in the innate immune response (cytokines, macrophages, NK cells, granulocytes, etc.)..The precise pathophysiological mechanisms of these diseases have yet to be fully elucidated. Recent research has led to advances in the diagnosis and identification of monogenic forms of these diseases, particularly in early onset, familial, and syndromic forms. Nevertheless, the rarity of these diseases and limited availability of biological samples are major challenges that need to be overcome.
Thus, the aims of this study were as follows:
- The creation of a biological collection: primary cells (PBMC), DNA, RNA, lymphoblastic lines, and serum, which, through various research projects, will help identify genetic and immunological abnormalities in rare autoimmune and autoinflammatory diseases.
Study design
- Primary purpose
- Other
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
- Model description
- prospective, multicenter, national study
| Arm | Type | Receives |
|---|---|---|
| Patient with with a rare dysimmune disease | Experimental | Genetic: Blood sample for genetic analysis, Other: Blood sample for immunological response assessments, Other: Blood sample to identify relevant biomarker of the diseaseminors or adults of any age with a rare dysimmune disease characterized by autoimmunity, autoinflammation or early lymphoproliferation, with onset in childhood (<18 years), or syndromic or familial. |
| Healthy volunteer participants | Other | Other: Blood sample for immunological response assessments, Other: Blood sample to identify relevant biomarker of the diseaseminor or adult participant without age restriction weighing more than 5 kg |
Who may qualify
- Ages
- 1 year and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (11 listed)
- Patients
- minor or adult patient of any age with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (<18 years), or syndromic or familial
- relative of a minor or adult patient with a rare dysimmune disease characterized by autoimmunity or auto-inflammation or early lymphoproliferation, having started in childhood (<18 years of age) or syndromic or familial,
- weight greater than 5 kg
- Patient/parents/guardians who were informed of the study and signed the consent form.
Key exclusion criteria (9 listed)
- Patients
- Subjects /Parents/guardians, refusing to participate in the study
- active infection (viral, bacterial, parasitic)
- history of neoplasia (< 5 years) or current neoplasia
- participants with a personal or family history of autoimmune disease
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 sample for genetic analysisgenetic analysis (WES, WGS) for the identification of germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood | Genetic | Patient with with a rare dysimmune disease |
| Blood sample for immunological response assessmentsIdentifying specific immunological factors in patients with rare pediatric autoimmune and auto inflammatory diseases | Other | Healthy volunteer participants, Patient with with a rare dysimmune disease |
| Blood sample to identify relevant biomarker of the diseaseResearch biomarkers for diagnosis, prognosis and monitoring of disease activity | Other | Healthy volunteer participants, Patient with with a rare dysimmune disease |
Primary outcome
To Identify germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood
Time frame: Baseline
Identification of germline or somatic genetic mutations, based on high-throughput sequencing data (exome, genome or transcriptome).
6 secondary outcomes
Measurement of disease activity according to Systemic Lupus Erythematosus Disease Activity Index (SLEDAI)
Time frame: Baseline
Levels of anti-double stranded DNA
Time frame: Baseline
Levels of complement components C3 and C4
Time frame: Baseline
Level of IFN Signature score
Time frame: Baseline
Concentration of circulating IFN-alpha
Time frame: Baseline
Presence or absence of anti-type I interferons autoantibodies
Time frame: Baseline
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 22 Dec 2025.
- Individual participant dataSharing planned: No
Related trials for Systemic Lupus
Not yet recruitingPhase 1
An Ascending Dose Study of DKB903 in Participants With Rheumatoid Arthritis (RA) and Participants With Systemic Lupus Erythematosus (SLE)
Rheumatoid Arthritis and Systemic Lupus Erythematosus
RecruitingPhase 4
Dapagliflozin in Active Lupus Nephritis
Lupus Nephritis (LN)
Recruiting
Effect of Anti-inflammatory Diet in Systemic Lupus Erythematous
Systemic Lupus Erthematosus (SLE)
RecruitingObservational study
Electroencephalogram Recording in Patients With Systemic Lupus Erythematosus
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Deciphering the Genetic Architecture of Autoimmune Diseases
Autoimmune Diseases
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.
13 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample for genetic analysis, Blood sample for immunological response assessments and Blood sample to identify relevant biomarker of the disease in people with Systemic Lupus and Autoimmune Diseases, run by Hospices Civils de Lyon at 13 sites 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 11 inclusion and 9 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: looking for participants now, as of the sponsor's last update on 22 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 13 sites 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?
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 BELOT Alexandre, Pr (+ 33 4 27 85 61 26, Alexandre.belot@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To Identify germline and somatic mutations responsible for rare autoimmune diseases or auto-inflammatory pathologies (pediatric or syndromic or familial) that began in childhood (time frame: Baseline). 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 22 Dec 2025.