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Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations

NCT02761473 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2020-08-20

No results posted yet for this study

Summary

Pediatric mastocytosis is an orphan disease, which encompasses several clinically distinct entities including solitary mastocytoma, urticaria pigmentosa, diffuse cutaneous mastocytosis and the newly recognized mast cell activation syndrome. The most common form of pediatric mastocytosis is cutaneous maculopapular mastocytosis (CMPM), also known as urticaria pigmentosa (UP). There are significant knowledge gaps regarding the genetic basis of pediatric mastocytosis and the functional activity of mast cells in this condition. The Pediatric Dermatology and Pediatric Oncology services at the University of Minnesota Masonic Children's Hospital are seeing significant growth in clinical volumes of pediatric mastocytosis, including rare, familial cases. The aims of this study are to prospectively explore germline risk for UP and to perform a mutational analysis to identify somatic mutations, beyond those currently identified, in pediatric patients with UP.

Conditions

  • Urticaria Pigmentosa
  • Cutaneous Mastocytosis

Interventions

OTHER

skin biopsy

A skin biopsy will be obtained from a typical UP lesion in affected patients

OTHER

blood draw

Blood will be obtained from subjects, parents and unaffected siblings

Sponsors & Collaborators

Eligibility

Min Age
3 Months
Max Age
23 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-11-30
Primary Completion
2019-10-01
Completion
2020-05-01

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02761473 on ClinicalTrials.gov