RECRUITING

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

This research will have a significant impact on the overall management of those cancer patients and their family members who are at risk for hereditary cancer due to germline inactivation of BAP1. Our study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. Because the vast majority of UM develop in pre-existing nevi, characterization of individuals at high risk for development of UM will allow closer screening and earlier intervention which would improve the treatment outcome not only for retaining vision but also for overall survival. Similarly in patients with germline BAP1 mutation CM develops in premalignant atypical melanocytic lesions and careful follow up of these patients will improve the outcome of their disease. In addition this study could have impact on the management of patients with personal and/or family history of several other cancers reported in patients with germline BAP1 mutation such as mesothelioma, renal cell carcinoma, cholangiocarcinoma, hepatocellular carcinoma, meningioma and basal cell carcinoma.

Official Title

Frequency and Clinical Phenotype of BAP1 Hereditary Predisposition Syndrome

Quick Facts

Study Start:2015-03-03
Study Completion:2026-07-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT04792463

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Personal history of one cancer reported in BAP1 cancer predisposition syndrome and family history of at least two 1st or 2nd degree relatives with cancer reported in hereditary BAP1 cancer predisposition syndrome such as UM, CM, mesothelioma, RCC, cholangiocarcinoma, meningioma and hepatocellular carcinoma.
  2. 2. Any patient with personal history of at least 2 cancers reported in hereditary BAP1 cancer predisposition syndrome.
  3. 3. Any subject (affected or unaffected) with a documented BAP1 pathogenic/ likely pathogenic variant.
  4. 4. Any patient with a cancer reported in BAP1 and a germline variant of uncertain significance.
  5. 5. At risk relatives of a patient with documented BAP1 mutation.
  1. * Study material including consent forms are currently only available in English so non-English speaking subjects are excluding

Contacts and Locations

Study Contact

Mohamed H Abdel-Rahman, MD, PhD
CONTACT
614-292-1396
Mohamed.Abdel-Rahman@osumc.edu

Principal Investigator

Mohamed H Abdel-Rahman, MD, PhD
PRINCIPAL_INVESTIGATOR
Ohio State University

Study Locations (Sites)

The Ohio State University Wexner Medical Center
Columbus, Ohio, 43210
United States

Collaborators and Investigators

Sponsor: Mohamed Abdel-Rahman

  • Mohamed H Abdel-Rahman, MD, PhD, PRINCIPAL_INVESTIGATOR, Ohio State University

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2015-03-03
Study Completion Date2026-07-01

Study Record Updates

Study Start Date2015-03-03
Study Completion Date2026-07-01

Terms related to this study

Additional Relevant MeSH Terms

  • Uveal Melanoma
  • Cutaneous Melanoma
  • BAP1 Gene Mutation
  • Renal Cell Carcinoma
  • Mesothelioma
  • Hepatocellular Carcinoma
  • Cholangiocarcinoma
  • Meningioma Atypical