Epidemiological Data on Mast Cell Pathologies in France (DATAMAST)

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.

Study Overview

• Status: Recruiting
• Conditions: Mast Cell Disorder

• Study Type: Observational
• Enrollment (Estimated): 13000

Contacts and Locations

Study Locations

• France
  • Paris, France
    • Not yet recruiting
    • Pr Olivier Hermine
    • Contact: Olivier Hermine, Pr; Email: olivier.hermine@institutimagine.org
  • Ile-de-France
    • Paris, Ile-de-France, France, 75015
      • Recruiting
      • Hôpital Necker-Enfants malades
      • Contact: Olivier Hermine, Pr; Phone Number: +33 (0)1 44 49 52 87; Email: olivier.hermine@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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.

Description

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 BMACS (1 to 2 criteria according to WHO 2016 classification).
3. Affiliation to a social security
4. 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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
Patients

What is the study measuring?

Primary Outcome Measures

Outcome 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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Patient characteristics	age, gender, personal and family medical history	Data 2010 - 2038
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

Collaborators and Investigators

• Sponsor: Imagine Institute

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2024
• Primary Completion (Estimated): December 31, 2038
• Study Completion (Estimated): December 31, 2038

Study Registration Dates

• First Submitted: November 21, 2023
• First Submitted That Met QC Criteria: December 15, 2023
• First Posted (Actual): January 2, 2024

Study Record Updates

• Last Update Posted (Actual): April 29, 2024
• Last Update Submitted That Met QC Criteria: April 26, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: Mastocytosis; Mast Cell Disease; mast cell-associated diseases
• Other Study ID Numbers: HJ-22-DATAMAST

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No