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NCT Number: NCT07142473

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

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.

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Key information

Conditions

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

Age range

6 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

SC Dermatologia, Fondazione IRCCS Policlinico San Matteo

Pavia, 27100, Italy

Location status: Recruiting

Location contact

Valeria Brazzelli, MD

CONTACT

[email protected]

0382503794

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Treatment and study plan

Primary outcomes

  1. Prevalence of the systemic disease variant in the examined population

    Time frame: January 2034

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

Secondary outcomes

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

    Time frame: January 2034

    The association will be evaluated using a multivariate logistic model; the number of covariates will be limited by the number of systemic mastocytosis cases, maintaining a 1:10 ratio. The selection of covariates will be made a priori based on scientific knowledge. Odds ratios (OR) and their corresponding 95% confidence intervals (CI) will be reported. The model's discriminatory ability (area under the ROC curve) and its calibration (graphically) will be calculated

  2. Association between family history and age of disease onset

    Time frame: January 2034

    The analysis will be performed using a multivariate logistic model

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

    Time frame: January 2034

    The survival rate will be reported as deaths per 100 person-years; the start date for follow-up will be the diagnosis of the disease. The groups will be compared using the log-rank test, and survival will be described using Kaplan-Meier curves. A Cox model will be used to derive the hazard ratio (HR) and the corresponding 95% confidence interval (CI). Harrell's C-statistic will be calculated to assess the model's discriminatory ability. Estimates will be adjusted, where possible, for potential confounding factors

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

    Time frame: January 2034

    The analysis will be performed using a multivariate logistic model

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

    Time frame: January 2034

    The analysis will be performed using a multivariate logistic model. For the purposes of the analysis, age will be dichotomized at the median. Linear regression models may also be used

Study contacts

Contact information is provided by the study sponsor or research team.

Valeria Brazzelli, MD

CONTACT

[email protected]

03820503794

Sponsors and collaborators

Lead sponsor

Fondazione IRCCS Policlinico San Matteo di Pavia

Other

Registry information

Acronym: MaRe

Important dates

Study start
2024
Primary completion
2034
Study completion
2034
First posted
Aug 26, 2025
Registry last updated
Aug 26, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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