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Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02761473
Recruitment Status : Active, not recruiting
First Posted : May 4, 2016
Last Update Posted : November 1, 2019
Information provided by (Responsible Party):
University of Minnesota

Brief 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.

Condition or disease Intervention/treatment
Urticaria Pigmentosa Cutaneous Mastocytosis Other: skin biopsy Other: blood draw

Detailed Description:

Urticaria pigmentosa (UP) is a relatively common disorder in pediatric patients, and little is known regarding the somatic and germline genetic variants associated with the disease. The University of Minnesota Masonic Children's Hospital is a regional referral center for pediatric patients with mast cell disorders. Collaborators on this study include several University departments including: Pediatric Dermatology, Pediatric Oncology, the Biomedical Genomics program, Lab Medicine and Pathology department. We hypothesize that because of differences observed in the clinical behavior of pediatric- and adult-onset mast cell disease, specifically UP, we will identify novel somatic gene variants in addition to c-KIT . We further hypothesize that we will observe novel germline genetic variants in pediatric UP distinct from what has previously been described in adults.

Specific Aims include the following:

Specific Aim 1: RNA Sequencing for Gene Expression and Mutation Analysis. Utilizing RNA sequencing (RNA-Seq), we will perform paired lesional and peripheral blood sequencing in UP cases to identify variation in gene expression and define novel somatic mutations associated with pediatric UP.

Specific Aim 2: Exploration of Germline Risk. Utilizing single nucleotide polymorphism (SNP) array, we will perform linkage analysis in UP cases and their unaffected family members to identify germline genetic variants associated with UP.

  1. Discordant sibling analysis: Children with UP and their unaffected siblings will be compared to identify germline variants.
  2. Identical twin and parent analysis: Identical infant twins with a severe UP phenotype will be compared with their unaffected parents.

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Study Type : Observational
Actual Enrollment : 50 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
Actual Study Start Date : November 2016
Estimated Primary Completion Date : May 1, 2020
Estimated Study Completion Date : May 1, 2020

Group/Cohort Intervention/treatment
Patients with Urticaria Pigmentosa
This group will undergo skin biopsy, blood and buccal swab analyses
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

Family members of affected patients
This group will undergo blood and buccal swab analyses

Primary Outcome Measures :
  1. RNA sequencing [ Time Frame: 1.5 years ]
    Fresh tissue from lesional skin will be obtained for gene expression and mutational analysis

Secondary Outcome Measures :
  1. SNP microarray analysis [ Time Frame: 1.5 years ]
    SNP microarray analysis will be performed on DNA obtained from buccal swabs or whole blood samples. Samples from patients and unaffected family members will be compared.

Biospecimen Retention:   Samples With DNA
Buccal swabs, skin biopsy and blood

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Months to 23 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with urticaria pigmentosa and first degree relatives

Inclusion Criteria:

Affected subject:

Subjects will be eligible to participate in the study if all of the following conditions exist:

  1. Clinical diagnosis of urticaria pigmentosa/cutaneous mastocytosis with representative skin lesions
  2. Age <23 years
  3. Capable of giving consent if 18 or older

Inclusion Criteria for Parent:

  1. Over 16 years of age
  2. Biologic parent to affected subject
  3. Capable of providing consent

Inclusion Criteria for Sibling:

1. Biologic sibling to affected subject 2. Capable of giving consent if 18 or older


Exclusion Criteria:

  1. Absence of skin findings representative of classic urticaria pigmentosa
  2. Patients with primarily systemic mastocytosis
  3. Unable or unwilling to participate in study procedures

Exclusion Criteria for Parent/Sibling:

1. Unable or unwilling to participate in study procedures

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02761473

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United States, Minnesota
University of Minnesota
Minneapolis, Minnesota, United States, 55455
Sponsors and Collaborators
University of Minnesota

Publications of Results:
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Responsible Party: University of Minnesota Identifier: NCT02761473    
Other Study ID Numbers: 1608M92621
First Posted: May 4, 2016    Key Record Dates
Last Update Posted: November 1, 2019
Last Verified: October 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Additional relevant MeSH terms:
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Mastocytosis, Cutaneous
Urticaria Pigmentosa
Skin Diseases, Vascular
Skin Diseases
Hypersensitivity, Immediate
Immune System Diseases
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Immune Complex Diseases
Pigmentation Disorders