Genotype-phenotype Characterization Study on Genetic Diseases With Immune and Neurological Dysfunctions

NCT06235580 | Recruiting

• 1 other identifier: IMNIS2014-02
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Genetic Diseases; Immune Dysfunction; Neurological Disease; Autoimmune Diseases

Outcome Measures

Primary Outcomes (3)

• 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.

  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.

  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.

  through study completion, an average of 1 year

Study Arms (3)

Patients

Other: Biological Samples

Controls

Other: Biological Samples

Unaffected related subjects

Other: Biological Samples

Interventions

Biological Samples OTHER

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.

Controls; Patients; Unaffected related subjects

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients will be included by any hospital department involved in the management of these pathologies in France.

You may qualify if:

• 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.
• 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.
• ✓ Be deprived of liberty

Sponsors & Collaborators

• Imagine Institute: lead

Study Sites (1)

Necker enfants malades Hospital

Paris, Île-de-France Region, 75015, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

It is planned to use several types of samples, both fresh and frozen: * From blood samples, it is planned to study DNA, RNA, serum, plasma and to prepare lymphoblastic cell lines. * From skin samples, fibroblast cell lines will be prepared. * From samples of surgical waste (leftovers) of muscle and brain tissue, etc., it is planned to prepare cell cultures and search for biological markers linked to these diseases. * From samples of cerebrospinal fluid from surgical waste (leftovers) or from non-surgical care, it is planned to prepare cell cultures and search for biological markers linked to these diseases.

MeSH Terms

Conditions

Genetic Diseases, Inborn; Immune System Diseases; Nervous System Diseases; Autoimmune Diseases

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Yanick Crow, MD PhD

  Institut Imagine

  PRINCIPAL INVESTIGATOR

• Marie-Louise Frémond, MD, Pr

  Institut Imagine

  STUDY CHAIR

Central Study Contacts

Yanick Crow, MD PhD

CONTACT

marie-louise.fremond@institutimagine.org

Marie-Louise Frémond, MD PhD

CONTACT

marie-louise.fremond@institutimagine.org

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 23, 2024
• First Posted: February 1, 2024
• Study Start: December 28, 2015
• Primary Completion (Estimated): December 27, 2030
• Study Completion (Estimated): December 27, 2035
• Last Updated: December 19, 2025

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)