Genetic Identification (ID) of Segmental Dysplastic Nevi | NCT00955578

Studies
Genetic Identification (ID) of Segmental Dysplastic Nevi

NCT00955578

Sponsor

Nova Scotia Health Authority

Status

Withdrawn

Last Update Posted

Aug 21, 2024Actual

Enrollment

0Actual

Phase

Not provided

Conditions

Segmental Dysplastic Nevi

Interventions

Punch Biopsy

Countries

Canada

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2009

Overall Recruitment Status or Expanded Access Status

Withdrawn

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Study was not submitted or reviewed by the NSH REB, reason unknown

Expanded Access Info

Start Date

Aug 2009

Primary Completion Date

Dec 2009

Completion Date

Mar 2010

First Submitted Date

Aug 7, 2009

First Submission Date that Met QC Criteria

Aug 7, 2009

First Posted Date

Aug 10, 2009Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Aug 19, 2024

Last Update Posted Date

Aug 21, 2024Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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).

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

0Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Punch Biopsy	Procedure	5-6 punch biopsies of affected areas	Segmental Dysplastic Nevi

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Patient with a positive history of segmental dysplastic nevi

Exclusion Criteria:

None

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

One patient who is already known to the principal investigator

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Richard GB Langley, MD, FRCPC	Capital Health/Dalhousie University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Capital Heatlh		Halifax	Nova Scotia	B3H1V7	Canada

Description

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.