Mastocytosis From Pediatric Age to Adulthood: Local Registry of Cutaneous and Systemic Mastocytosis

NCT07142473 | Recruiting

• 1 other identifier: MaRe
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief Summary

Given the renewed focus on mastocytosis (recognized in Italy as a rare disease since 2018) and emerging clinical and immunogenetic knowledge, and considering the rarity of the disease and limited understanding of its progression, this observational study aims to analyze epidemiological, clinical, genetic, immunohistochemical, and laboratory characteristics of patients with mastocytosis. This will help expand knowledge about the disease and identify prognostic variables useful in developing a personalized therapeutic approach. This registry aims to collect retrospective and prospective data on patients with cutaneous and systemic mastocytosis attending the Dermatology Unit at the IRCCS Fondazione Policlinico San Matteo. This is a single-center longitudinal hospital registry including patients with cutaneous and systemic mastocytosis, collected retrospectively and prospectively to assess the clinical, serological, hematological, and molecular characteristics of patients with cutaneous and systemic mastocytosis and their correlation with specific outcomes such as disease variant (cutaneous or systemic), extent of skin involvement, and survival rate.

Conditions

Cutaneous Mastocytosis; Systemic Mastocytosis

Outcome Measures

Primary Outcomes (1)

• Prevalence of the systemic disease variant in the examined population

  The prevalence and the 95% exact binomial confidence interval will be presented

  January 2034

Secondary Outcomes (5)

• Association between clinical, serological, hematological, and molecular characteristics and the disease variant (cutaneous or systemic)

  January 2034

• Association between family history and age of disease onset

  January 2034

• Survival rate in relation to the disease variant (cutaneous or systemic)

  January 2034

• Association between c-KIT mutation in blood and clinical characteristics of the patient

  January 2034

• Evaluation of dermatoscopic characteristics in relation to the clinical presentation of the disease and the patient's age

  January 2034

Study Arms (1)

patients diagnosed with cutaneous or systemic mastocytosis

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All patients diagnosed with cutaneous or systemic mastocytosis attending the Dermatology Outpatient Clinics of the UOC Dermatology Unit Fondazione Policlinico San Matteo IRCCS Pavia will be eligible for inclusion in the registry.

You may qualify if:

• \- Cutaneous or systemic mastocytosis diagnosys attending the Dermatology Outpatient Clinics of the UOC Dermatology Unit Fondazione IRCCS Policlinico San Matteo

Sponsors & Collaborators

• Fondazione IRCCS Policlinico San Matteo di Pavia: lead

Study Sites (1)

SC Dermatologia, Fondazione IRCCS Policlinico San Matteo

Pavia, Pavia, 27100, Italy

RECRUITING

MeSH Terms

Conditions

Mastocytosis, Cutaneous; Mastocytosis, Systemic

Condition Hierarchy (Ancestors)

Mastocytosis; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Neoplasms by Histologic Type; Neoplasms; Skin Neoplasms; Neoplasms by Site; Skin Diseases; Skin and Connective Tissue Diseases; Mast Cell Activation Disorders; Immune System Diseases

Central Study Contacts

Valeria Brazzelli, MD

CONTACT

03820503794; v.brazzelli@smatteo.pv.it

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: February 17, 2025
• First Posted: August 26, 2025
• Study Start: January 26, 2024
• Primary Completion (Estimated): January 26, 2034
• Study Completion (Estimated): January 26, 2034
• Last Updated: August 26, 2025

Record last verified: 2025-02

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)