Ignite Creation Date:
2024-05-06 @ 7:48 PM
Last Modification Date:
2024-10-26 @ 3:13 PM
Study NCT ID:
NCT06131346
Status:
RECRUITING
Last Update Posted:
2023-11-14
First Post:
2023-11-09
Brief Title:
Clinical Characterization and Outcome of Anti-IgLON5 Disease
Sponsor:
Hospices Civils de Lyon
Organization:
Hospices Civils de Lyon
Study Overview
Official Title:
Identification Clinical Characterization and Prognosis of Anti-IgLON5 Disease
Status:
RECRUITING
Status Verified Date:
2023-11
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
ICP-IGLON5
Brief Summary:
Anti-IgLON5 disease is a neurological disorder associated with antibodies to IgLON5 a neuronal cell adhesion protein of unknown function Most patients develop a combination of significant sleep disturbances non-rapid eye movement NREM and rapid eye movement parasomnias with obstructive sleep apnoea bulbar dysfunction dysarthria dysphagia vocal cord paralysis or episodes of respiratory failure and gait instability Early autopsy studies showed deposits of phosphorylated tau protein mainly in neurons of the brainstem tegmentum suggesting a primary neurodegenerative disease However the results of subsequent studies have provided increasing support for an immune-mediated pathogenesis First there is a strong association with the human leukocyte antigen HLA haplotype DRB11001-DQB105 01 which is present in 60 of patients compared to 2 in the normal population secondly recent autopsy studies have shown the absence of abnormal tau deposits and thirdly in live neurons in culture IgLON5 antibodies cause irreversible loss of surface IgLON5 clusters and cytoskeletal changes such as dystrophic neurites and axonal bulges Together these studies suggest that antibody-mediated disruption of IgLON5 function leads to neurofilament and cytoskeletal alterations that can potentially result in tau accumulation
Over the last two years an increase in diagnoses of anti-IgLON5 disease has been observed in the French Reference centre of Autoimmune Encephalitis This could be related to a better knowledge of the disease or to other yet unknown factors Clinical characterisation of these patients is essential to understand the underlying reasons for the increase in diagnoses and to improve knowledge of this disease Furthermore the response of these patients to immunosuppressive drugs and the long-term prognosis remain unknown
Over the last two years an increase in diagnoses of anti-IgLON5 disease has been observed in the French Reference centre of Autoimmune Encephalitis This could be related to a better knowledge of the disease or to other yet unknown factors Clinical characterisation of these patients is essential to understand the underlying reasons for the increase in diagnoses and to improve knowledge of this disease Furthermore the response of these patients to immunosuppressive drugs and the long-term prognosis remain unknown
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None