Purpan University Hospital
Toulouse, 31059, France
Location status: Recruiting
NCT Number: NCT04698421
The aim of this project is to improve biological collections of patients presenting rare neurological disorders with known or suspected autoimmune origin. This collection will provide appropriate biological samples to identify new biomarkers and to be accessible to the medical, scientific and industrial communities for the identification of new therapeutic strategies.
Interested in participating?
Request Info6 year–99 year
All sexes
Observational
Toulouse, 31059, France
Location status: Recruiting
Neuroimmunology is a rapidly expanding field since major advances have been made in basic immunology and numerous new clinical entities have been identified in the last 10 years. Even if these discoveries have led to major advances in patient's management and treatment, a lot of work needs to be done to improve the diagnosis and prognostic biomarkers. It is widely known that the immune system is implicated in a variety of neurological disorders such as infections, encephalitis or multiple sclerosis. Numerous neurological disorders affecting the central and peripheral nervous system can be attributed to the immune system and need to be recognized as some of them can be cured by appropriate immunotherapy. These neurological disorders include autoimmune encephalitis and paraneoplastic neurological syndromes but also myasthenia, chronic demyelinating inflammatory polyneuropathy and other neuromuscular pathologies.
These neurological disorders are characterized by the presence of autoantibodies in the patient's sera or cerebral spinal fluid (CSF). These autoantibodies are generally highly specific and necessary to make the diagnosis. However, in some cases, despite strong clinical arguments for a neuroimmunological disorder, we do not identify autoantibodies, leading to inappropriate treatment and a blind follow-up considering the risk of recurrence or of associated tumor. Furthermore, even if the specific role of some autoantibodies or of immune T cells in some of these pathologies are suspected or already documented, for most of them the exact mechanism is still unknown. We need to explore the sera and CSF of these patients to identify new diagnosis and prognosis biomarker. Moreover, the availability of immune cells isolated from these patients will help us to decipher the pathophysiological mechanisms to create new therapeutic strategies. For this, animal models are already available in Centre Physiopathology Toulouse and in the French reference center in Lyon. As genetic susceptibilities may underlie, at least in part, the variability of the clinical manifestations and of the response to treatment, DNA from patients will be collected and immune genes sequencing will be compared to other control groups, included international database.
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
Exclusion criteria
Biological samples will be collected in the normal diagnosis and follow-up process. Only blood will be taken in larger quantity (8 tubes of 7mL).
Time frame: Day 0 and through study completion, an average of 1 year
Blood sampling
Time frame: Day 0 and through study completion, an average of 1 year
ELISA
Time frame: Day 0 and through study completion, an average of 1 year
Analysis of the phenotypic profiling of blood immune cells by multicolor fluorescence-activated cell sorter (FACS) analysis and of the transcriptomic profiling of blood immune cells by RNA sequencing
Time frame: Day 0 and through study completion, an average of 1 year
Knock-out or knock-in animal models for one specific protein will be used to determine in vivo if the pathophysiological mechanisms of rare autoimmune neurological disorder can be induced by the abnormal expression of this protein.
Contact information is provided by the study sponsor or research team.
University Hospital, Toulouse
Other
Prospective Collection of Biological Samples From Patients With Rare Neurological Diseases
Acronym: EXPLAINEUR
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View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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