Clinical Trial Details
— Status: Not yet recruiting
Administrative data
NCT number |
NCT06354322 |
Other study ID # |
APHP230630 |
Secondary ID |
|
Status |
Not yet recruiting |
Phase |
|
First received |
|
Last updated |
|
Start date |
May 2024 |
Est. completion date |
May 2034 |
Study information
Verified date |
April 2024 |
Source |
Assistance Publique - Hôpitaux de Paris |
Contact |
Sophie GEORGIN-LAVIALLE, Professor |
Phone |
00 33 1 56 01 72 04 |
Email |
sophie.georgin-lavialle[@]aphp.fr |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational
|
Clinical Trial 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.
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 patient's follow-up care.