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

NCT ID: NCT06235580

Last Updated: 2025-12-19

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 1000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2015-12-28
• Study Completion Date: 2035-12-27

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.

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.

Conditions

Genetic Diseases; Immune Dysfunction; Neurological Disease; Autoimmune Diseases

Study Design

• Observational Model Type: CASE_CONTROL
• Study Time Perspective: PROSPECTIVE

Study Groups

Patients

Biological Samples

Intervention Type: 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

Biological Samples

Intervention Type: 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.

Unaffected related subjects

Biological Samples

Intervention Type: 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.

Interventions

Biological Samples

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.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• 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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Imagine Institute

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Yanick Crow, MD PhD

Role: PRINCIPAL_INVESTIGATOR

Institut Imagine

Marie-Louise Frémond, MD, Pr

Role: STUDY_CHAIR

Institut Imagine

Locations

Necker enfants malades Hospital

Paris, Île-de-France Region, France

Site Status: RECRUITING

Countries

France

Central Contacts

Yanick Crow, MD PhD

Role: CONTACT

Email: marie-louise.fremond@institutimagine.org

Marie-Louise Frémond, MD PhD

Role: CONTACT

Email: marie-louise.fremond@institutimagine.org

Facility Contacts

Yannick Crow, MD PhD

Role: primary

Marie-Louise Frémond, MD, PhD

Role: backup

Other Identifiers

IMNIS2014-02

Identifier Type: -

Identifier Source: org_study_id