Auto Inflammatory Diseases
Conditions
Keywords
SITRAME, autoinflammatory diseases, cohort
Brief summary
SITRAME syndrome is a recently described disease. In the absence of epidemiological data on SITRAME syndrome in France, the National Reference Center for Autoinflammatory Diseases proposes coordinating a database to collect both retrospective and prospective cases of this rare disease. Currently, there are no available data on the epidemiology or treatment of SITRAME syndrome in France or globally. The importance of this research is to provide an overview of demographic, etiological, and disease progression data for patients with SITRAME syndrome in France. This will allow the establishment of quantitative data on the morbidity and mortality of this rare disease.
Interventions
None listed
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
• SITRAME syndrome meeting the diagnostic criteria for the disease All the following criteria must be met: 1. Systemic inflammation: at least 1 documented episode of CRP \>5mg/mL during a skin flare 2. Maculopapular rash on the trunk: fixed, non-itchy maculopapular rash on the trunk appearing within hours with clear borders 3. Recurrence in the same areas: at least 3 different episodes 4. Acute: duration less than 8 days And at least 1 of the following criteria: 1. Fever during flare-ups 2. Flare-ups triggered by infections, vaccinations, or intense physical exercise 3. Fatigue during and/or after flare-ups 4. Associated papular rash And all the following
Exclusion criteria
must be met: * No evidence of a monogenic autoinflammatory disease, evolving neoplasm, or evolving autoimmune disease. * Adult patients at the time of inclusion * Patients not opposed to participating in the research
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Description of the sexe at the diagnosis of the disease in order to describe the clinical characteristics of patients followed for SITRAME syndrome | Day 0- Baseline | — |
| Description of the age at the diagnosis of the disease | Day 0- Baseline | Description of the age at the diagnosis of the disease in order to describe the clinical characteristics of patients followed for SITRAME syndrome |
| Description of cardiovascular co-morbidity | Day 0- Baseline | Description of cardiovascular co-morbidity at the diagnosis of the disease in order to describe the clinical characteristics of patients followed for SITRAME syndrome |
| Description of presence of an allergical context | Day 0- Baseline | Description of presence of an allergical context in order to describe the clinical characteristics of patients followed for SITRAME syndrome |
| Description of the different therapeutic lines | Year 15 | Description of the different therapeutic lines in order to describe the clinical characteristics of patients followed for SITRAME syndrome |
| Description of the age at death | Day 0- Baseline | Description of the age at death in order to describe the clinical characteristics of patients followed for SITRAME syndrome |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Measure of the number of deaths in patients followed for SITRAME syndrome | every 5 years up to 15 years | — |
| Description of the death causes in patients followed for SITRAME syndrome | every 5 years up to 15 years | — |
| Number of dead patients followed for SITRAME syndrome with presence and pattern of extracutaneous involvement (pulmonary manifestations) | every 5 years up to 15 years | Number of dead patients followed for SITRAME syndrome with presence and pattern of extracutaneous involvement (pulmonary manifestations) in order to describe the clinical characteristics of this population |
| Number of dead patients followed for SITRAME syndrome with presence and pattern of extracutaneous involvement (cardiac manifestations) | Every 5 years up to 15 years | Number of dead patients followed for SITRAME syndrome with presence and pattern of extracutaneous involvement (cardiac manifestations) in order to describe the clinical characteristics of this population |
| Number of dead patients followed for SITRAME syndrome with presence and pattern of extracutaneous involvement (neurological manifestations) | every 5 years up to 15 years | Number of dead patients followed for SITRAME syndrome with presence and pattern of extracutaneous involvement (neurological manifestations) in order to describe the clinical characteristics of this population |
| Number of dead patients followed for SITRAME syndrome with presence and pattern of extracutaneous involvement (gastrointestinal manifestations) | every 5 years up to 15 years | Number of dead patients followed for SITRAME syndrome with presence and pattern of extracutaneous involvement (gastrointestinal manifestations) in order to describe the clinical characteristics of this population |
| C-reactive protein (CRP) rate in the population of dead patients followed for SITRAME syndrome | every 5 years up to 15 years | C-reactive protein (CRP) rate in the population of dead patients followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Frequency of inflammatory flares throughout the disease course in the population of dead patients followed for SITRAME syndrome | every 5 years up to 15 years | Frequency of inflammatory flares throughout the disease course in the population of dead patients followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Ferritin rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Ferritin rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Liver enzymes rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Liver enzymes rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Creatinine rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Creatinine rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Measure of the prevalence of this disease annually using the register of newly included patients | Every year up to 15 years | — |
| Platelets rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Platelets rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Hemoglobin rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Hemoglobin rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Hematocrit rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Hematocrit rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Mean corpuscular volume (MCV) rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Mean corpuscular volume (MCV) rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| White blood cells rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | White blood cells rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Neutrophils rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Neutrophils rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Lymphocytes rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Lymphocytes rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Monocytes rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Monocytes rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Eosinophils rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Eosinophils rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Basophils rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Basophils rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Red blood cells rate of the dead patient followed for SITRAME syndrome | every 5 years up to 15 years | Red blood cells rate of the dead patient followed for SITRAME syndrome in order to describe the biological characteristics of this population |
| Measure of the incidence of this disease | Every year up to 15 years | Measure of the incidence of this disease annually using the register of newly included patients Time frame: annually |
| Description of the rare clinical manifestations (outside of the well-established disease criteria) | Year 15 | — |
| Description of the rare biological manifestations (outside of the well-established disease criteria) | Year 15 | — |
| Measure of the number of patients eligible for various clinical research studies on SITRAME syndrome | Every year up to 15 years | — |
| Measure of the proportion of patients using targeted therapies throughout the study | Year 15 | — |
Contacts
Primary ContactAngele SORIA, PU-PH, MD, PhD
Backup ContactSophie GEORGIN-LAVIALLE, PUPH, MD, PhD
Outcome results
None listed