Mast Cell Disorder
Conditions
Keywords
Mast Cell Disease, Mastocytosis, mast cell-associated diseases
Brief summary
Mast cell disorders constitute a heterogeneous group of diseases, including : * mastocytosis, i.e. cutaneous, indolent and severe forms of the disease, such as aggressive mastocytosis and mast cell leukemia) ; * mast cell-associated diseases such as mast cell activation syndrome (idiopathic, secondary or clonal), affecting both children and adults. No epidemiological data are currently available in France. In France, medical care of mast cell disorders is mainly provided by a rare disease network (CEREMAST), whose CRMR is located at the Necker Enfants Malades hospital in Paris. A total of 20 centers are located throughout France. Our aim is to use this network to study patients suffering from these diseases. The overall aim of the study is to improve the understanding, diagnosis, prognosis, recognition and management of patients with mastocytosis.
Interventions
None listed
Sponsors
Imagine Institute
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
1. Children from birth and adults of any age 2. With one of the following mast cell diseases: * Mastocytoses (cutaneous, systemic and sarcomas) Defined according to the WHO 2016 classification * Mast cell activation syndromes (idiopathic, secondary and clonal) * Other mast cell activation disorders (MCAD-NOS), Defined according to the Vienna classification * Pre-mastocytosis or MMC (1 to 2 criteria according to WHO 2016 classification). 3. Managed in France in a rare disease reference, constitutive or competence center (CEREMAST) with DGOS labelization.
Exclusion criteria
1\. Opposition of the patient or his/her parents to participation in the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Epidemiology of mast cell disorders in France assessed by statistics on the prevalence on the various types of mast cell disorders | Data 2010 - 2038 |
| Epidemiology of mast cell disorders in France assessed by statistics on the incidence on the various types of mast cell disorders | Data 2010 - 2038 |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Patient characteristics | Data 2010 - 2038 | age, gender, personal and family medical history |
| Characteristics of mast cell disease assessed by type of disease | Data 2010 - 2038 | — |
| Characteristics of mast cell disease assessed by diagnostic criteria | Data 2010 - 2038 | — |
| Characteristics of mast cell disease assessed by symptoms of disease | Data 2010 - 2038 | — |
| Evolution of mast cell disease assessed by progression of skin lesions | Data 2010 - 2038 | — |
| Evolution of mast cell disease assessed by progression to aggressive form | Data 2010 - 2038 | — |
| Evolution of mast cell disease assessed by associated hemopathy | Data 2010 - 2038 | — |
| Evolution of mast cell disease assessed by appearance of new symptoms | Data 2010 - 2038 | — |
| Patient follow-up assessed by occurrence of other medical events in the patient | Data 2010 - 2038 | — |
| Patient follow-up assessed by overall survival | Data 2010 - 2038 | — |
| Types of treatment used on mastocytosis and any associated hemopathy | Data 2010 - 2038 | — |
| Tolerance of treatment used on mastocytosis and any associated hemopathy | Data 2010 - 2038 | — |
| Efficacy of treatment used on mastocytosis and any associated hemopathy | Data 2010 - 2038 | — |
Countries
France
Contacts
CONTACTJulien Rossignol, Dr
Outcome results
None listed