Ignite Creation Date:
2024-05-06 @ 8:21 PM
Last Modification Date:
2024-10-26 @ 3:26 PM
Study NCT ID:
NCT06354322
Status:
NOT_YET_RECRUITING
Last Update Posted:
2024-04-09
First Post:
2024-04-03
Brief Title:
Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Sponsor:
Assistance Publique - Hôpitaux de Paris
Organization:
Assistance Publique - Hôpitaux de Paris
Study Overview
Official Title:
Physiopathological Investigation of Unclassified GENotypes of Autoinflammatory Diseases and AA Amyloidosis
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-04
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:
IPHYGENI MAI
Brief Summary:
Patients with autoinflammatory diseases AID have recurrent episodes of systemic inflammation accompanied by nonspecific elevation of blood inflammation markers typically absent between attacks A complication of autoinflammatory diseases is AA amyloidosis which can lead to renal failure and dialysis Advances in genetic analysis have led to the identification of new autoinflammatory diseases and thus new pathophysiological pathways
However genetic analyses are sometimes confronted with results that are difficult to interpret These are the Variants of Unknown Significance for which genetic analysis alone does not allow to determine if the genetic mutation is responsible for the symptoms
genetic analysis sometimes has limitations in the diagnosis of AID which can only be overcome by pathophysiological studies of the variants found
However genetic analyses are sometimes confronted with results that are difficult to interpret These are the Variants of Unknown Significance for which genetic analysis alone does not allow to determine if the genetic mutation is responsible for the symptoms
genetic analysis sometimes has limitations in the diagnosis of AID which can only be overcome by pathophysiological studies of the variants found
Detailed Description:
The study aim to explore variants of undetermined significance in major and minor patients with unclassified autoinflammatory disease or AA amyloidosis of undetermined etiology by studying their pathogenicity
National multicenter research internal medicine department of Tenon Hospital pediatric department of Versailles Hospital and pediatric dermatology department of Necker Enfants Malades Hospital in Paris
Samples will be collected at the inclusion visit or at subsequent visits of the patient to the department during a blood draw performed as part of routine care by a registered nurse
The total volume of the sample will be 24 mL per 6 month period maximum and will not exceed In case of skin involvement of the auto-inflammatory disease a skin biopsy may be performed as part of the patients follow-up care
National multicenter research internal medicine department of Tenon Hospital pediatric department of Versailles Hospital and pediatric dermatology department of Necker Enfants Malades Hospital in Paris
Samples will be collected at the inclusion visit or at subsequent visits of the patient to the department during a blood draw performed as part of routine care by a registered nurse
The total volume of the sample will be 24 mL per 6 month period maximum and will not exceed In case of skin involvement of the auto-inflammatory disease a skin biopsy may be performed as part of the patients follow-up care
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