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

Autoimmune Diseases Clinical Trial

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Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06235580
• Other study ID #: IMNIS2014-02
• Status: Recruiting
• Start date: December 1, 2014
• Est. completion date: January 1, 2031

Study information

• Verified date: January 2024
• Source: Imagine Institute
• Contact: Yanick Crow, MD PhD
• Email: yasmine.ainouz[@]institutimagine.org
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 600
• Est. completion date: January 1, 2031
• Est. primary completion date: January 1, 2031
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Non-inclusion criteria

? Be deprived of liberty

Related Conditions & MeSH terms

• Autoimmune Diseases
• Genetic Diseases
• Genetic Diseases, Inborn
• Immune Dysfunction
• Immune System Diseases
• Nervous System Diseases
• Neurological Disease

Intervention

Other:
• 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.

Locations

Country	Name	City	State
France	Necker enfants malades Hospital	Paris	Ile De France

Sponsors (1)

Lead Sponsor	Collaborator
Imagine Institute

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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