COMPLETED

Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1

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

The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.

Official Title

Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1

Quick Facts

Study Start:2021-05-07
Study Completion:2025-11-24
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:COMPLETED

Study ID

NCT04941027

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:40 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Age 40 or older.
  2. * NF type 1 diagnosed using clinical criteria.
  3. * At least one neurofibroma present at time of enrollment.
  4. * Patient able to read and understand consent form (or equivalent translation) and able to give consent.
  5. * Patient able and willing to complete all study procedures.
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Principal Investigator

Kavita Sarin, MD PhD
PRINCIPAL_INVESTIGATOR
Stanford University
Jaishri Blakely, MD
PRINCIPAL_INVESTIGATOR
Johns Hopkins University
Carlos Romo, MD
PRINCIPAL_INVESTIGATOR
Johns Hopkins University

Study Locations (Sites)

Johns Hopkins University School of Medicine
Baltimore, California, 21218
United States
Stanford University
Redwood City, California, 94063
United States

Collaborators and Investigators

Sponsor: Stanford University

  • Kavita Sarin, MD PhD, PRINCIPAL_INVESTIGATOR, Stanford University
  • Jaishri Blakely, MD, PRINCIPAL_INVESTIGATOR, Johns Hopkins University
  • Carlos Romo, MD, PRINCIPAL_INVESTIGATOR, Johns Hopkins 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 Date2021-05-07
Study Completion Date2025-11-24

Study Record Updates

Study Start Date2021-05-07
Study Completion Date2025-11-24

Terms related to this study

Additional Relevant MeSH Terms

  • Neurofibromatosis 1