Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations
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|ClinicalTrials.gov Identifier: NCT02761473|
Recruitment Status : Active, not recruiting
First Posted : May 4, 2016
Last Update Posted : November 1, 2019
|Condition or disease||Intervention/treatment|
|Urticaria Pigmentosa Cutaneous Mastocytosis||Other: skin biopsy Other: blood draw|
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.
- Discordant sibling analysis: Children with UP and their unaffected siblings will be compared to identify germline variants.
- Identical twin and parent analysis: Identical infant twins with a severe UP phenotype will be compared with their unaffected parents.
|Study Type :||Observational|
|Actual Enrollment :||50 participants|
|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|
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
- RNA sequencing [ Time Frame: 1.5 years ]Fresh tissue from lesional skin will be obtained for gene expression and mutational analysis
- 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
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 ClinicalTrials.gov identifier (NCT number): NCT02761473
|United States, Minnesota|
|University of Minnesota|
|Minneapolis, Minnesota, United States, 55455|