Neurofibromatosis 1NCT04941027
Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
An observational study of Neurofibromatosis 1, run by Stanford University at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 40 years and older
- Conditions the study is for
- Neurofibromatosis 1
- How many people
- 1,046 participants
- Where
- 2 sitesUnited States
- Study dates
- 7 May 2021to 24 Nov 2025
- How long will I take part?
- 1 Day
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 40 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Participants aged 40 or older that have been clinically diagnosed with NF1 and currently have neurofibromas present.
Who may be able to join
- 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.
Who cannot join
None listed.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
Johns Hopkins University School of Medicine
Baltimore, California, 21218
Stanford University
Redwood City, California, 94063
About this study
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.
- Conditions
- Neurofibromatosis 1
- Medical subject headings
- Neurofibromatosis 1
What is being measured
The primary outcome is the main question the study is designed to answer.
Determination of genetic variants associated with clinical presentations of NF1.
GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jun 2021
- Study start7 May 2021
- Primary completion30 Sep 2025
- Study completion24 Nov 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Neurofibromatosis 1Studies of the same condition, open and under way.
- More trials run by Stanford UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 1,046 participants (actual)
- Target duration
- 1 Day
Sponsor and investigators
- Lead sponsor
- Stanford University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Kavita Sarin, Stanford University
- Investigators
- Kavita Sarin, MD PhD, Principal investigator, Stanford UniversityJaishri Blakely, MD, Principal investigator, Johns Hopkins UniversityCarlos Romo, MD, Principal investigator, Johns Hopkins University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04941027
- Sponsor's protocol ID
- 53000
- Other IDs
- MZ-0053000, SPO: 200898
- Status last verified
- Nov 2025
- First submitted
- 18 Jun 2021
- Last updated
- 2 Dec 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Individual participant data will be shared indefinitely with collaborators after data is deidentified.
Publications
Marjanovic M, Mikiver R, Nielsen K, Isaksson K, Claeson M. Contrasting survival outcomes and patient characteristics in 5815 patients with stage II and III melanoma: a nationwide population-based registry study from Sweden. Br J Dermatol. 2026 Mar 19;194(4):648-655. doi: 10.1093/bjd/ljaf478.
PubMed 41296675Fertitta L, Sarin KY, Romo CG, Bergqvist C, Blakeley JO, Peiffer B, Tran VT, Armand ML, Moryousef S, Ferkal S, Le Corvoisier P, Ezzedine K, Wolkenstein P. Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D. Br J Dermatol. 2026 Mar 19;194(4):679-688. doi: 10.1093/bjd/ljaf479.
PubMed 41290043
Study at a glance
From the registry record, last updated by the sponsor on 2 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1
- ClinicalTrials.gov ID
- NCT04941027
- Acronym / sponsor ID
- 53000
- Conditions
- Neurofibromatosis 1
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,046 participants (actual)
- Lead sponsor
- Stanford UniversityUniversity, hospital or other
- Collaborators
- Johns Hopkins University, University of California, San Francisco
- Study start
- 7 May 2021 (actual)
- Primary completion
- 30 Sep 2025 (actual)
- Study completion
- 24 Nov 2025 (actual)
- First posted
- 28 Jun 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Target follow-up
- 1 Day
Who may qualify
- Ages
- 40 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Participants aged 40 or older that have been clinically diagnosed with NF1 and currently have neurofibromas present.
Key inclusion criteria (5 listed)
- 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.
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Dec 2025.
- Derived from this study: PubMed 41296675Marjanovic M, Mikiver R, Nielsen K, Isaksson K, Claeson M. Contrasting survival outcomes and patient characteristics in 5815 patients with stage II and III melanoma: a nationwide population-based registry study from Sweden. Br J Dermatol. 2026 Mar 19;194(4):648-655. doi: 10.1093/bjd/ljaf478.
- Derived from this study: PubMed 41290043Fertitta L, Sarin KY, Romo CG, Bergqvist C, Blakeley JO, Peiffer B, Tran VT, Armand ML, Moryousef S, Ferkal S, Le Corvoisier P, Ezzedine K, Wolkenstein P. Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D. Br J Dermatol. 2026 Mar 19;194(4):679-688. doi: 10.1093/bjd/ljaf479.
- Individual participant dataSharing planned: Yes. Individual participant data will be shared indefinitely with collaborators after data is deidentified.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kavita Sarin, MD PhD principal investigator
Stanford University
Jaishri Blakely, MD principal investigator
Johns Hopkins University
Carlos Romo, MD principal investigator
Johns Hopkins University
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neurofibromatosis 1, run by Stanford University at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Determination of genetic variants associated with clinical presentations of NF1. (time frame: Day 1). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04941027, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Dec 2025.