Search / Trial NCT06235580

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

Launched by IMAGINE INSTITUTE · Jan 23, 2024

Trial Information

Current as of October 08, 2024

Recruiting

Keywords

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. Th...

Gender

ALL

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.
  • Non-inclusion criteria
  • ✓ Be deprived of liberty

About Imagine Institute

The Imagine Institute is a leading research organization dedicated to advancing medical knowledge and improving patient outcomes through innovative clinical trials. Committed to fostering collaboration among scientists, clinicians, and industry partners, the Institute focuses on pioneering research in genetic and rare diseases. With a state-of-the-art facility and a multidisciplinary team of experts, the Imagine Institute aims to translate groundbreaking discoveries into effective therapies, ensuring that cutting-edge treatments are accessible to those in need. Its commitment to excellence and patient-centric approach positions the Imagine Institute as a key player in the landscape of clinical research and healthcare innovation.

Locations

Paris, Ile De France, France

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0