Nevoid Basal Cell Carcinomas in Gorlin Syndrome

NCT05898347 | Unknown

• 1 other identifier: 487620
• Study Type: observational
• Target: 10
• Locations: 1 country
• Sites: 1

Brief Summary

The overall aim of the project is to gain knowledge about the expected course of nevoid basal cell carcinomas and the usefulness of dermatoscopy in young individuals with Gorlin syndrome. Clinical experience and some case-reports suggest that nevoid basal cell carcinomas have an indolent course with slow growth and that they can sometimes regress. However, no systematic research has previously been performed. Increased knowledge about nevoid basal cell carcinomas and the use of dermatoscopy could be of great clinical value in the follow-up and treatment of individuals with nevoid basal cell carcinoma syndrome.

Conditions

Basal Cell Carcinoma; Gorlin Syndrome

Keywords

Dermatoscopy

Outcome Measures

Primary Outcomes (2)

• Nevoid basal cell carcinoma size increase

  Largest diameter (measured in millimeter) of nevoid basal cell carcinomas after two years surveillance compared to at baseline.

  Two years

• Dermatoscopy findings

  Dermatoscopy findings of nevoid basal cell carcinomas compared to nevoid basal cell carcinoma size increase.

  Two years

Secondary Outcomes (1)

• Nevoid basal cell carcinoma histology

  Two years

Other Outcomes (2)

• Clinical manifestations associated with nevoid basal cell carcinomas

  Two years

• Mutation burden in nevoid basal cell carcinomas analyzed by next-generation sequencing

  Two years

Study Arms (1)

Gorlin syndrome

Children aged six to seventeen years old with Gorlin syndrome and nevoid basal cell carcinomas.

Other: Active surveillance

Interventions

Active surveillance OTHER

Skin lesions clinically compatible with nevoid basal cell carcinomas are documented with measurements, clinical description, clinical photos and dermatoscopy photos every eight months for two years. Three representative skin lesions are selected at the first visit to be removed by skin biopsy at the end of the observation period (two years) for histopathological analyses. If a nevoid basal cell carcinoma shows a certain increases in size (according to pre-specified criteria of the study protocol), ulcerates, gets unevenly demarcated or give functional complaints during the observation period, the skin lesion will be excised.

Gorlin syndrome

Eligibility Criteria

• Age: 6 Years - 17 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

Children aged six to seventeen years with Gorlin syndrome and nevoid basal cell carcinomas living in Norway.

You may qualify if:

• The individual has Gorlin syndrome (clinically and/or genetically diagnosed)
• The individual is minimum 6 years and maximum 17 years
• The individual has at least three skin lesions clinically compatible with nevoid basal cell carcinomas

You may not qualify if:

• The patient has a psychiatric disorder not compatible with completion of the study examinations
• The patient has received topical treatment (imiquimod, 5-fluorouracil, photodynamic therapy and/or cryotherapy) of nevoid basal cell carcinomas during the last three months

Sponsors & Collaborators

• Oslo University Hospital: lead

Study Sites (1)

Oslo University Hospital

Oslo, 0424, Norway

Location

Biospecimen

Retention: SAMPLES WITH DNA

Skin biopsies.

MeSH Terms

Conditions

Carcinoma, Basal Cell; Basal Cell Nevus Syndrome

Interventions

Watchful Waiting

Condition Hierarchy (Ancestors)

Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Basal Cell; Odontogenic Cysts; Jaw Cysts; Bone Cysts; Cysts; Neoplastic Syndromes, Hereditary; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Jaw Diseases; Stomatognathic Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Outcome Assessment, Health Care; Outcome and Process Assessment, Health Care; Quality of Health Care; Health Services Administration

Study Officials

• Kristin Hortemo, MD, PhD

  Oslo University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor, Medical Doctor

Study Record Dates

• First Submitted: May 29, 2023
• First Posted: June 12, 2023
• Study Start: June 1, 2023
• Primary Completion: June 1, 2025
• Study Completion: December 31, 2025
• Last Updated: June 12, 2023

Record last verified: 2023-06

Locations

NO (1)