Genetic DiseasesIFNNCT06235580
Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
An observational study of Genetic Diseases and Immune Dysfunction, run by Imagine Institute at 1 site in France.
Trial summary
Over the past twenty years, Prof. Yanick Crow and his team have developed internationally recognized expertise in genetic pathologies affecting the immune and neurological systems. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Genetic Diseases, Immune Dysfunction, Neurological Disease
- What is being tested?
- Biological Samples
- How many people
- 1,000 participants
- Where
- 1 siteFrance
- Study dates
- 28 Dec 2015to 27 Dec 2035
- Phase
- Observational
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients will be included by any hospital department involved in the management of these pathologies in France.
Who may be able to join
- Patients :
- Have / present a family history of genetic disease with immune and neurological dysfunction.
- Have signed an informed consent form.
- Unaffected related subjects :
- Be related to a patient included in this research.
- Have signed an informed consent form.
Show all 12Show fewer
- Control patients
- Be free of any genetic disease with immune and neurological dysfunction.
- Have undergone surgery as part of their management
- Have signed an informed consent form.
- Non-inclusion criteria
- ✓ Be deprived of liberty
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Yanick Crow, MD PhD contact
Marie-Louise Frémond, MD PhD contact
France1 site, 1 recruiting
- Recruiting
Necker enfants malades Hospital
Paris, Île-de-France Region, 75015
Yannick Crow, MD PhD, yanickcrow@mac.com
Marie-Louise Frémond, MD, PhD, marie-louise.fremond@institutimagine.org
About this study
Over the past twenty years, Prof. Yanick Crow and his team have developed internationally recognized expertise in genetic pathologies affecting the immune and neurological systems. The pathologies studied have a particularly severe impact on patients' quality of life, with a high mortality rate and a significant risk of occurrence in affected families. These pathologies are rare, and very often under-diagnosed. To date, there is virtually no effective curative treatment.
Prof. Crow's team operates at the frontier between clinical and research work, and from experience, the team knows that patients and families affected by these serious pathologies are often highly motivated to help research into the pathology that affects them.
Initially, Prof. Crow's research focused primarily on the study of the genetic disease Aicardi-Goutières Syndrome (AGS). However, there is an undeniable clinical and pathological overlap between AGS and other forms of disease such as autoimmune systemic lupus erythematosus and many other genetic pathologies - e.g. familial lupus engelure, spondyloenchondromatosis and COPA syndrome. This is why research is being extended to all genetic diseases with immune and neurological dysfunctions.
Read the detailed description
The research methodology is classic with regard to many genetic clinical studies, and aims to:
- clinically define the phenotypes of these diseases (in this case, genetic diseases with immune and neurological dysfunctions)
- identify the gene(s) responsible for each disease
- Understand how changes in these genes and protein functions cause these diseases.
It is possible that this research will ultimately lead to the creation of diagnostic tests (e.g. molecular diagnostic screening tests) and treatments that would be clinically very useful for the patients participating in the project. These discoveries could also improve our knowledge of other more common pathologies, particularly those associated with autoimmunity (e.g. when the body increases an immune response against its own tissues).
As a complement to this global research project, Prof. Crow's team intends to study cell populations from patients with no inflammatory pathology, in order to analyze their basal levels of immune and inflammatory mediator production, as well as to assess their capacity (kinetics and amplitude) to respond to stimuli.
- Being tested
- Biological Samples
- Medical subject headings
- Genetic Diseases, Inborn, Immune System Diseases, Nervous System Diseases, Autoimmune Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Biological SamplesOther
For patients, different types of banked frozen or fresh biological samples will be used in this research:
- Blood
- Skin biopsy or other tissues (liver, muscle, brain, lung...)
- Urine
- Saliva
- Cerebrospinal fluid
- Occasionally: operative "leftovers" (e.g. muscle, brain, lung tissue)
In control patients, we would like to collect operative remnants of cell types involved in the inflammatory and/or neurological diseases studied in the laboratory, if these patients require surgery as part of their management, and if any biological material remains after surgery. Under the same conditions, a sample of cerebrospinal fluid could be recovered.
For unaffected relatives, a single blood sample of maximum 10 ml is taken at inclusion, and samples already taken during routine care are used.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Not described Receives: Other: Biological Samples | |
| Controls | Not described Receives: Other: Biological Samples | |
| Unaffected related subjects | Not described Receives: Other: Biological Samples |
What is being measured
The primary outcome is the main question the study is designed to answer.
Clinical features of human genetic diseases that affect the immune and neurological systems.
Clinical features of human genetic diseases that affect the immune and neurological systems.
Measured: through study completion, an average of 1 year
Natural history of human genetic diseases that affect the immune and neurological systems.
Natural history of human genetic diseases that affect the immune and neurological systems.
Measured: through study completion, an average of 1 year
Molecular and cellular basis of human genetic diseases that affect the immune and neurological systems.
Molecular and cellular basis of human genetic diseases that affect the immune and neurological systems.
Measured: through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Feb 2024
- Study start28 Dec 2015
- Primary completion27 Dec 2030 (estimated)
- Study completion27 Dec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Genetic DiseasesStudies of the same condition, open and under way.
- 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Yanick Crow, MD PhD, Principal investigator, Institut ImagineMarie-Louise Frémond, MD, Pr, Study chair, Institut Imagine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06235580
- Sponsor's protocol ID
- IMNIS2014-02
- Acronym
- IFN
- Status last verified
- Dec 2025
- First submitted
- 23 Jan 2024
- Last updated
- 19 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 19 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions
- ClinicalTrials.gov ID
- NCT06235580
- Acronym / sponsor ID
- IFN / IMNIS2014-02
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Imagine InstituteUniversity, hospital or other
- Study start
- 28 Dec 2015 (actual)
- Primary completion
- 27 Dec 2030 (estimated)
- Study completion
- 27 Dec 2035 (estimated)
- First posted
- 1 Feb 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.
Over the past twenty years, Prof. Yanick Crow and his team have developed internationally recognized expertise in genetic pathologies affecting the immune and neurological systems. The pathologies studied have a particularly severe impact on patients' quality of life, with a high mortality rate and a significant risk of occurrence in affected families. These pathologies are rare, and very often under-diagnosed. To date, there is virtually no effective curative treatment.
Prof. Crow's team operates at the frontier between clinical and research work, and from experience, the team knows that patients and families affected by these serious pathologies are often highly motivated to help research into the pathology that affects them.
Initially, Prof. Crow's research focused primarily on the study of the genetic disease Aicardi-Goutières Syndrome (AGS). However, there is an undeniable clinical and pathological overlap between AGS and other forms of disease such as autoimmune systemic lupus erythematosus and many other genetic pathologies - e.g. familial lupus engelure, spondyloenchondromatosis and COPA syndrome. This is why research is being extended to all genetic diseases with immune and neurological dysfunctions.
Detailed description
The research methodology is classic with regard to many genetic clinical studies, and aims to:
- clinically define the phenotypes of these diseases (in this case, genetic diseases with immune and neurological dysfunctions)
- identify the gene(s) responsible for each disease
- Understand how changes in these genes and protein functions cause these diseases.
It is possible that this research will ultimately lead to the creation of diagnostic tests (e.g. molecular diagnostic screening tests) and treatments that would be clinically very useful for the patients participating in the project. These discoveries could also improve our knowledge of other more common pathologies, particularly those associated with autoimmunity (e.g. when the body increases an immune response against its own tissues).
As a complement to this global research project, Prof. Crow's team intends to study cell populations from patients with no inflammatory pathology, in order to analyze their basal levels of immune and inflammatory mediator production, as well as to assess their capacity (kinetics and amplitude) to respond to stimuli.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Patients | – | Other: Biological Samples |
| Controls | – | Other: Biological Samples |
| Unaffected related subjects | – | Other: Biological Samples |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients will be included by any hospital department involved in the management of these pathologies in France.
Key inclusion criteria (12 listed)
- Patients :
- Unaffected related subjects :
- Control patients
- Non-inclusion criteria
- ✓ Be deprived of liberty
Key exclusion criteria (0 listed)
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 |
|---|---|---|
| Biological SamplesFor patients, different types of banked frozen or fresh biological samples will be used in this research: * Blood * Skin biopsy or other tissues (liver, muscle, brain, lung...) * Urine * Saliva * Cerebrospinal fluid * Occasionally: operative "leftovers" (e.g. muscle, brain, lung tissue) In control patients, we would like to collect operative remnants of cell types involved in the inflammatory and/or neurological diseases studied in the laboratory, if these patients require surgery as part of their management, and if any biological material remains after surgery. Under the same conditions, a sample of cerebrospinal fluid could be recovered. For unaffected relatives, a single blood sample of maximum 10 ml is taken at inclusion, and samples already taken during routine care are used. | Other | Controls, Patients, Unaffected related subjects |
Primary outcome
Clinical features of human genetic diseases that affect the immune and neurological systems.
Time frame: through study completion, an average of 1 year
Clinical features of human genetic diseases that affect the immune and neurological systems.
Natural history of human genetic diseases that affect the immune and neurological systems.
Time frame: through study completion, an average of 1 year
Natural history of human genetic diseases that affect the immune and neurological systems.
Molecular and cellular basis of human genetic diseases that affect the immune and neurological systems.
Time frame: through study completion, an average of 1 year
Molecular and cellular basis of human genetic diseases that affect the immune and neurological systems.
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 19 Dec 2025.
- Individual participant dataSharing planned: No
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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.
Yanick Crow, MD PhD contact
Marie-Louise Frémond, MD PhD contact
Yanick Crow, MD PhD principal investigator
Institut Imagine
Marie-Louise Frémond, MD, Pr study chair
Institut Imagine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Diseases and Immune Dysfunction, run by Imagine Institute 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 12 inclusion and 0 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 19 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 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?
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 Yanick Crow, MD PhD (marie-louise.fremond@institutimagine.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Clinical features of human genetic diseases that affect the immune and neurological systems. (time frame: through study completion, an average of 1 year). The study lists 3 primary outcomes in all. 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 19 Dec 2025.