Clinical trial NCT06186856: Epidemiological Data on Mast Cell Pathologies in France
Official title: Epidemiological Data on Mast Cell Pathologies in France
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Mast Cell Disorder
Keywords: Mast Cell Disease
Mastocytosis
mast cell-associated diseases
Lead sponsor: Imagine Institute
Sponsor class: OTHER
First posted: 2024-01-02
Enrollment: 13000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patient with mast cell diseases, managed in France in a rare disease reference center CEREMAST.

13000 pateints estimated.

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.


Eligibility criteria: 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.

Primary outcomes:
measure: Epidemiology of mast cell disorders in France assessed by statistics on the prevalence on the various types of mast cell disorders
timeFrame: Data 2010 - 2038
measure: Epidemiology of mast cell disorders in France assessed by statistics on the incidence on the various types of mast cell disorders
timeFrame: Data 2010 - 2038
Secondary outcomes:
measure: Patient characteristics
timeFrame: Data 2010 - 2038
measure: Characteristics of mast cell disease assessed by type of disease
timeFrame: Data 2010 - 2038
measure: Characteristics of mast cell disease assessed by diagnostic criteria
timeFrame: Data 2010 - 2038
measure: Characteristics of mast cell disease assessed by symptoms of disease
timeFrame: Data 2010 - 2038
measure: Evolution of mast cell disease assessed by progression of skin lesions
timeFrame: Data 2010 - 2038
measure: Evolution of mast cell disease assessed by progression to aggressive form
timeFrame: Data 2010 - 2038
measure: Evolution of mast cell disease assessed by associated hemopathy
timeFrame: Data 2010 - 2038
measure: Evolution of mast cell disease assessed by appearance of new symptoms
timeFrame: Data 2010 - 2038
measure: Patient follow-up assessed by occurrence of other medical events in the patient
timeFrame: Data 2010 - 2038
measure: Patient follow-up assessed by overall survival
timeFrame: Data 2010 - 2038
measure: Types of treatment used on mastocytosis and any associated hemopathy
timeFrame: Data 2010 - 2038
measure: Tolerance of treatment used on mastocytosis and any associated hemopathy
timeFrame: Data 2010 - 2038
measure: Efficacy of treatment used on mastocytosis and any associated hemopathy
timeFrame: Data 2010 - 2038
Other outcomes:
Locations:
city: Amiens
country: France
facility: CHU AMIENS site sud
city: Angers
country: France
facility: Chu Angers
city: Besançon
country: France
facility: Chu - Besancon
city: Caen
country: France
facility: Chu - Caen
city: Clermont-Ferrand
country: France
facility: Chu - Clermont Ferrand
city: Lille
country: France
facility: Chru Lille
city: Limoges
country: France
facility: Chu - Limoges
city: Marseille
country: France
facility: Chu - La Timone - Marseille
city: Nancy
country: France
facility: CHU de NANCY
city: Nantes
country: France
facility: Chu - Nantes
city: Paris
country: France
facility: Hôpital Universitaire Pitié Salpetrière
city: Paris
country: France
facility: Hôpital Necker-Enfants malades
city: Rennes
country: France
facility: Chu - Rennes
city: Saint-Pierre
country: France
facility: CHU Réunion sud - Saint Pierre
city: Strasbourg
country: France
facility: Chru - Strasbourg
Study officials:
References: