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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04941027
Recruitment Status : Recruiting
First Posted : June 28, 2021
Last Update Posted : July 1, 2021
Sponsor:
Collaborators:
Johns Hopkins University
University of California, San Francisco
Information provided by (Responsible Party):
Kavita Sarin, Stanford University

Brief Summary:
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.

Condition or disease
Neurofibromatosis 1

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 1 Day
Official Title: Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
Actual Study Start Date : May 7, 2021
Estimated Primary Completion Date : June 1, 2022
Estimated Study Completion Date : June 1, 2022





Primary Outcome Measures :
  1. 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.


Biospecimen Retention:   Samples With DNA
Saliva samples will be collected from patients for genetic sequencing.


Information from the National Library of Medicine

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Ages Eligible for Study:   40 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
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.
Criteria

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04941027


Contacts
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Contact: Ekshika Patel, BS 16504978029 ekshika@stanford.edu

Locations
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United States, California
Johns Hopkins University School of Medicine Recruiting
Baltimore, California, United States, 21218
Contact: Carlos Romo, MD    410-955-8837    cromo1@jhmi.edu   
Stanford University Recruiting
Redwood City, California, United States, 94063
Contact: Ekshika Patel    650-497-8029    ekshika@stanford.edu   
Principal Investigator: Kavita Sarin, MD PHD         
Sponsors and Collaborators
Stanford University
Johns Hopkins University
University of California, San Francisco
Investigators
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Principal Investigator: Kavita Sarin, MD PhD Stanford University
Principal Investigator: Jaishri Blakely, MD Johns Hopkins University
Principal Investigator: Carlos Romo, MD Johns Hopkins University
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Responsible Party: Kavita Sarin, Assistant Professor of Medicine, Stanford University
ClinicalTrials.gov Identifier: NCT04941027    
Other Study ID Numbers: 53000
MZ-0053000 ( Other Identifier: OnCore )
SPO: 200898 ( Other Grant/Funding Number: Johns Hopkins University: PRIME NTAP )
First Posted: June 28, 2021    Key Record Dates
Last Update Posted: July 1, 2021
Last Verified: June 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Individual participant data will be shared indefinitely with collaborators after data is deidentified.
Supporting Materials: Study Protocol
Statistical Analysis Plan (SAP)
Informed Consent Form (ICF)
Time Frame: Data will be available as generated indefinitely.
Access Criteria: Data will be shared through secure REDCap database.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Neurofibromatoses
Neurofibromatosis 1
Neurofibroma
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplasms
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms