Genetic Identification (ID) of Segmental Dysplastic Nevi

The recruitment status of this study is unknown because the information has not been verified recently.
Verified September 2009 by Capital District Health Authority, Canada.
Recruitment status was  Not yet recruiting
Sponsor:
Information provided by:
Capital District Health Authority, Canada
ClinicalTrials.gov Identifier:
NCT00955578
First received: August 7, 2009
Last updated: September 1, 2009
Last verified: September 2009
  Purpose

The investigators' goal is to identify the mutation in the gene that is responsible for the development of segmental dysplastic nevi. To identify the gene the investigators may use a candidate gene approach (i.e. sequence specific genes that are thought to be involved: NRAS, BRAF, etc) or a genome-wide approach trying to implicate regions in the genome (Loss-of-heterozygosity or copy number changes on comparative genomic hybridization).


Condition Intervention
Segmental Dysplastic Nevi
Procedure: Punch Biopsy

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Identification of the Genetic Mutation Responsible for Segmental Dysplastic Nevi

Resource links provided by NLM:


Further study details as provided by Capital District Health Authority, Canada:

Biospecimen Retention:   Samples With DNA

The participant will be involved in the study for the length of time required to obtain 5 to 6 skin biopsiesThe laboratory testing that will be performed includes a genetic analysis of the tissue obtained from biopsy. The genetic analysis will take place in the genetics lab of Dr. Hensin Tsao, Massachusetts General Hospital, Bartlett 622, 48 Blossom Street, Boston MA, 02114.


Estimated Enrollment: 1
Study Start Date: August 2009
Estimated Study Completion Date: March 2010
Estimated Primary Completion Date: December 2009 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Segmental Dysplastic Nevi
One patient who has been diagnosed with SDN and has had previous biopsies in the past, comparing to current biopsies
Procedure: Punch Biopsy
5-6 punch biopsies of affected areas

Detailed Description:

Dysplastic (atypical) melanocytic (DMN) nevi have been identified as being potential precursors of melanoma and markers for patients at risk of developing primary melanoma1. In addition, having an increased number of nevi is associated with increased risk1. DMN are present in 2-5% of white adults in the U.S. population and international studies have documented up to 18% prevalence2. These lesions may be present in at least 17% of white adults with melanoma and 20-50% of melanomas may arise in nevi and atypical nevi2. The exact gene(s) involved in the development of nevi have yet to be elucidated.

Segmental dysplastic nevi are nevi that are restricted to one area of the body3. This condition is much rarer than the occurrence of dysplastic nevi, but nonetheless, may involve the same genetic mutation. The pattern of distribution in SDN is thought to result from mosaicism, i.e. the part of the body that expresses the dysplastic nevi has a mutation in a gene, however, the rest of the body does not contain this same mutation. Other mosaic disorders that have been studied in greater detail than SDN have been shown to be caused by a single gene mutation4. It appears that SDN is no different and that it too is caused by a mutation in a single gene, however, this gene is not yet known.

In this study we will perform a genetic analysis of tissue from a patient known to have SDN. With the information we gather from this analysis, we may be able to find the gene responsible for the development of dysplastic nevi.

Primary Research Objective:

To investigate the genetic mutation involved in the development of dysplastic nevi by examining a patient with SDN.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

One patient who is already known to the principal investigator

Criteria

Inclusion Criteria:

  • Patient with a positive history of segmental dysplastic nevi

Exclusion Criteria:

  • None
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00955578

Locations
Canada, Nova Scotia
Capital Heatlh Not yet recruiting
Halifax, Nova Scotia, Canada, B3H1V7
Contact: Denise F Teas, CCRP, CRA    902-423-0482    denise.teas@hotmail.com   
Contact: Richard GB Langley, MD, FRCPC    902-423-0482    richard.langley@dal.ca   
Sponsors and Collaborators
Capital District Health Authority, Canada
Investigators
Principal Investigator: Richard GB Langley, MD, FRCPC Capital Health/Dalhousie University
  More Information

No publications provided

Responsible Party: Denise Teas or Richard Langley, MD, FRCPC, Dermatologist, Capital Health/Dalhousie University
ClinicalTrials.gov Identifier: NCT00955578     History of Changes
Other Study ID Numbers: SDN-001
Study First Received: August 7, 2009
Last Updated: September 1, 2009
Health Authority: Canada: Ethics Review Committee

Additional relevant MeSH terms:
Nevus
Nevus, Pigmented
Dysplastic Nevus Syndrome
Hyperplasia
Nevi and Melanomas
Neoplasms by Histologic Type
Neoplasms
Neoplastic Syndromes, Hereditary
Genetic Diseases, Inborn
Pathologic Processes

ClinicalTrials.gov processed this record on July 23, 2014