- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04941027
Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
February 1, 2024 updated by: Kavita Sarin, Stanford University
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.
Study Overview
Status
Recruiting
Conditions
Study Type
Observational
Enrollment (Estimated)
1000
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Katya Vera, BA
- Phone Number: 2096130263
- Email: katvera@stanford.edu
Study Locations
-
-
California
-
Baltimore, California, United States, 21218
- Recruiting
- Johns Hopkins University School of Medicine
-
Contact:
- Carlos Romo, MD
- Phone Number: 410-955-8837
- Email: cromo1@jhmi.edu
-
Redwood City, California, United States, 94063
- Recruiting
- Stanford University
-
Principal Investigator:
- Kavita Sarin, MD PHD
-
Contact:
- Katya Vera
- Email: katvera@stanford.edu
-
-
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.
Eligibility Criteria
Ages Eligible for Study
40 years and older (Adult, Older Adult)
Accepts Healthy Volunteers
No
Sampling Method
Non-Probability Sample
Study Population
Participants aged 40 or older that have been clinically diagnosed with NF1 and currently have neurofibromas present.
Description
Inclusion Criteria:
- Age 40 or older.
- NF type 1 diagnosed using clinical criteria.
- At least one neurofibroma present at time of enrollment.
- Patient able to read and understand consent form (or equivalent translation) and able to give consent.
- Patient able and willing to complete all study procedures.
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Case-Only
- Time Perspectives: Cross-Sectional
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Determination of genetic variants associated with clinical presentations of NF1.
Time Frame: Day 1
|
GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.
|
Day 1
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Investigators
- Principal Investigator: Kavita Sarin, MD PhD, Stanford University
- Principal Investigator: Jaishri Blakely, MD, Johns Hopkins University
- Principal Investigator: Carlos Romo, MD, 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 Major Dates
Study Start (Actual)
May 7, 2021
Primary Completion (Estimated)
June 30, 2024
Study Completion (Estimated)
June 30, 2024
Study Registration Dates
First Submitted
June 18, 2021
First Submitted That Met QC Criteria
June 18, 2021
First Posted (Actual)
June 28, 2021
Study Record Updates
Last Update Posted (Estimated)
February 5, 2024
Last Update Submitted That Met QC Criteria
February 1, 2024
Last Verified
February 1, 2024
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Nervous System Diseases
- Neoplasms by Histologic Type
- Neoplasms
- Genetic Diseases, Inborn
- Neuromuscular Diseases
- Neurodegenerative Diseases
- Neoplasms, Nerve Tissue
- Peripheral Nervous System Diseases
- Nervous System Neoplasms
- Heredodegenerative Disorders, Nervous System
- Neoplastic Syndromes, Hereditary
- Nerve Sheath Neoplasms
- Neurocutaneous Syndromes
- Peripheral Nervous System Neoplasms
- Neurofibromatoses
- Neurofibromatosis 1
- Neurofibroma
Other Study ID Numbers
- 53000
- MZ-0053000 (Other Identifier: OnCore)
- SPO: 200898 (Other Grant/Funding Number: Johns Hopkins University: PRIME NTAP)
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
YES
IPD Plan Description
Individual participant data will be shared indefinitely with collaborators after data is deidentified.
IPD Sharing Time Frame
Data will be available as generated indefinitely.
IPD Sharing Access Criteria
Data will be shared through secure REDCap database.
IPD Sharing Supporting Information Type
- STUDY_PROTOCOL
- SAP
- ICF
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Neurofibromatosis 1
-
University of UtahUniversity of British Columbia; Children's Hospital Medical Center, Cincinnati and other collaboratorsTerminatedNeurofibromatosis Type 1 (NF1)United States, Canada
-
University of Alabama at BirminghamCompletedNeurofibromatosis Type 1 and Growing or Symptomatic, Inoperable PNUnited States
-
Novartis PharmaceuticalsTerminatedPlexiform Neurofibroma Associated With Neurofibromatosis Type 1Israel
-
SpringWorks Therapeutics, Inc.Active, not recruitingPlexiform Neurofibroma | Neurofibromatosis Type 1 (NF1)United States
-
AstraZenecaCompletedHealthy Participants | Neurofibromatosis Type 1 (NF1)-Related Plexiform Neurofibromas (PNs)United States
-
Johns Hopkins UniversityNeurofibromatosis Therapeutic Acceleration ProgramRecruitingNeurofibromatosis 1 | Neurofibromatosis Type 1 | Cutaneous Neurofibroma | Neurofibromatosis (Nonmalignant)United States
-
SpringWorks Therapeutics, Inc.AvailableNeurofibromatosis Type 1-Associated Plexiform Neurofibromas | Histiocytic Neoplasm | Other MAP-K Pathway Driven Diseases
-
National Cancer Institute (NCI)CompletedPlexiform Neurofibroma | Neurofibromatosis Type IUnited States
-
Ann & Robert H Lurie Children's Hospital of ChicagoNational Institute of Neurological Disorders and Stroke (NINDS); Children's...RecruitingNeurofibromatosis 1 | Neurofibromatosis Type 1 | NF1United States
-
Guy's and St Thomas' NHS Foundation TrustRecruitingNeurofibromatosis Type 1United Kingdom