Neurofibromatosis 1NCT06262113
A Decentralized Clinical Trial to Promote Evidence-Based Care for Underserved Patients With Neurofibromatosis 1
A study testing Letters about NF1 Care (Content Type 1) and Letters about NF1 Care (Content Type 2) in people with Neurofibromatosis 1, run by Massachusetts General Hospital at 1 site in United States.
Trial summary
The goal of this fully decentralized, randomized controlled trial is to compare the efficacy of two educational interventions for individuals with Neurofibromatosis 1 (NF1). The primary objective of the study is to determine which intervention leads to higher rates of evidenced-based health screenings for NF1 patients… Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Neurofibromatosis 1
- What is being tested?
- Letters about NF1 Care (Content Type 1) and Letters about NF1 Care (Content Type 2)
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 294 participants
- Where
- 1 siteUnited States
- Study dates
- 3 Dec 2024to 16 Aug 2026
- Phase
- Interventional
- 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 Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
None listed.
Who cannot join
- Only one person per household may participate in the study
- Unwilling or unable to give informed consent
Trial locations and contacts
1 site in 1 country.
United States1 site
Massachusetts General Hospital
Boston, Massachusetts, 02114
About this study
The goal of this fully decentralized, randomized controlled trial is to compare the efficacy of two educational interventions for individuals with Neurofibromatosis 1 (NF1). The primary objective of the study is to determine which intervention leads to higher rates of evidenced-based health screenings for NF1 patients in primary care settings.
Adults with NF1 and parents/guardians of children with NF1 from across the U.S. who do not go to a specialized NF clinic and who have an upcoming annual wellness visits (e.g. an annual physical, a well-child visit, etc.) scheduled with a primary care provider (PCP) are eligible to enroll in the study. To see if you might be eligible, fill out a prescreening survey here: https://redcap.link/mynfguide
Read the detailed description
Background: The majority of individuals with Neurofibromatosis 1 (NF1) in the United States lack access to specialized NF1 clinics and consequently don't receive care aligned with national recommendations. To address this gap in care, researchers are evaluating two interventions to determine which one helps people get recommended NF1-related health screenings at their annual wellness visit with a primary care provider.
Methods: Participants (adult patients or parents) who enroll in the study will complete baseline survey assessments online before their PCP visit and then be randomized to one of two groups. Both groups will be given letters, one for themselves and one for their clinician, that describe NF1 care recommendations. After attending their annual wellness visit, all participants will be asked to complete an online follow-up survey. A small subsample of participants will also be asked to do a virtual qualitative interview. No visits to Massachusetts General Hospital are required for this study.
- Conditions
- Neurofibromatosis 1
- Being tested
- Letters about NF1 Care (Content Type 1), Letters about NF1 Care (Content Type 2)
- Keywords
- Neurofibromatosis, NF1, Guideline, Healthcare, PCP, Parent, Pediatric, Primary Care, Annual Care, Physical Exam, Well-Child
- Medical subject headings
- Neurofibromatosis 1, Neurofibromatoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Letters about NF1 Care (Content Type 1)Other
Participants will receive two letters about NF1 care, one for themselves and one for their primary care clinician, to read in advance of the patient's annual wellness visit
Letters about NF1 Care (Content Type 2)Other
Participants will receive two letters about NF1 care, one for themselves and one for their primary care clinician, to read in advance of the patient's annual wellness visit
| Study group | Role | What they receive |
|---|---|---|
| Intervention Arm | Experimental | Not described Receives: Other: Letters about NF1 Care (Content Type 1) |
| Enhanced Usual Care Arm | Experimental | Not described Receives: Other: Letters about NF1 Care (Content Type 2) |
What is being measured
The primary outcome is the main question the study is designed to answer.
Receipt of Recommended NF1 Health Screenings
Number of AAP and ACMG recommended health screenings received by the person with NF1 at the annual wellness visit with their PCP, as assessed by patient/parent self-report
Measured: 2 weeks after PCP visit
Secondary outcomes (4)
Patient Activation Measure®
The Patient Activation Measure will be used to assess patient's and parent's self-efficacy managing their or their child's care. The patient form has 13 items and the parent form has 10 items. The measure has scores ranging from 0-100, where higher scores indicate higher patient/parent activation (e.g. self-efficacy in managing your own or your child's healthcare).
Measured: At baseline and 2 weeks after PCP visit
Consumer Assessment of Healthcare Providers and Systems (CAHPS®) Clinician and Group Survey Version 4.0 (Beta): Rating of the Visit
The CAHPS® Rating of the Visit will be used to assess patient/parent satisfaction with the visit. This rating is a single item scored from 0 to 10, where higher scores indicated a better visit.
Measured: 2 weeks after PCP visit
Consumer Assessment of Healthcare Providers and Systems (CAHPS®) Clinician and Group Survey Version 4.0 (Beta): How Well Providers Communicate With Patients Subscale
The subscale will be used to assess How Well Providers Communicate With Patients. This scale will be scored from 0 to 100, where higher scores indicated better communication with patients.
Measured: 2 weeks after PCP visit
Consumer Assessment of Healthcare Providers and Systems (CAHPS®) Clinician and Group Survey Version 4.0 (Beta): Providers' Use of Information to Coordinate Patient Care Subscale
The subscale will be used to assess Providers' Use of Information to Coordinate Patient Care. This scale will be scored from 0 to 100, where higher scores indicate better use of information to coordinate care.
Measured: 2 weeks after PCP visit
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Feb 2024
- Study start3 Dec 2024
- Primary completion16 Aug 2026
- Study completion16 Aug 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)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 Massachusetts General HospitalThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Health services research
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind
- Who is masked
- Participant, Care provider
- Enrolment
- 294 participants (actual)
Sponsor and investigators
- Lead sponsor
- Massachusetts General Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Patient-Centered Outcomes Research Institute
- Responsible party
- Principal investigator, Vanessa Merker, PhD, Massachusetts General Hospital
- Investigators
- Vanessa Merker, PhD, Principal investigator, Massachusetts General HospitalScott Plotkin, MD, PhD, Principal investigator, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06262113
- Sponsor's protocol ID
- 2024P000392
- Other IDs
- AD-2022C2-24790
- Status last verified
- Aug 2026
- First submitted
- 30 Jan 2024
- Last updated
- 21 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: The investigators plan to submit their complete de-identified data set to the Patient-Centered Outcomes Data Repository (PCODR) at the Inter-university Consortium for Political and Social Research (ICPSR) per PCORI guidelines.
Publications
Merker VL, Ma Y, Chibnik LB, Radtke HB, Kelts K, Yohay K, Ullrich NJ, Plotkin SR, Jordan JT. Self-reported access to specialty clinics and receipt of health surveillance among U.S. patients with neurofibromatosis 1: a national survey. Orphanet J Rare Dis. 2025 Apr 16;20(1):185. doi: 10.1186/s13023-025-03677-5.
PubMed 40241092Merker VL, Dai A, Radtke HB, Knight P, Jordan JT, Plotkin SR. Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis. BMC Health Serv Res. 2018 Aug 29;18(1):668. doi: 10.1186/s12913-018-3471-5.
PubMed 30157837Merker VL, Knight P, Radtke HB, Yohay K, Ullrich NJ, Plotkin SR, Jordan JT. Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists. Orphanet J Rare Dis. 2022 Feb 10;17(1):44. doi: 10.1186/s13023-022-02196-x.
PubMed 35144646
Study at a glance
From the registry record, last updated by the sponsor on 21 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Decentralized Clinical Trial to Promote Evidence-Based Care for Underserved Patients With Neurofibromatosis 1
- ClinicalTrials.gov ID
- NCT06262113
- Acronym / sponsor ID
- 2024P000392
- Conditions
- Neurofibromatosis 1
- Keywords
- Neurofibromatosis, NF1, Guideline, Healthcare, PCP, Parent, Pediatric, Primary Care
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 294 participants (actual)
- Lead sponsor
- Massachusetts General HospitalUniversity, hospital or other
- Collaborators
- Patient-Centered Outcomes Research Institute
- Study start
- 3 Dec 2024 (actual)
- Primary completion
- 16 Aug 2026 (actual)
- Study completion
- 16 Aug 2026 (actual)
- First posted
- 15 Feb 2024 (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 goal of this fully decentralized, randomized controlled trial is to compare the efficacy of two educational interventions for individuals with Neurofibromatosis 1 (NF1). The primary objective of the study is to determine which intervention leads to higher rates of evidenced-based health screenings for NF1 patients in primary care settings.
Adults with NF1 and parents/guardians of children with NF1 from across the U.S. who do not go to a specialized NF clinic and who have an upcoming annual wellness visits (e.g. an annual physical, a well-child visit, etc.) scheduled with a primary care provider (PCP) are eligible to enroll in the study. To see if you might be eligible, fill out a prescreening survey here: https://redcap.link/mynfguide
Detailed description
Background: The majority of individuals with Neurofibromatosis 1 (NF1) in the United States lack access to specialized NF1 clinics and consequently don't receive care aligned with national recommendations. To address this gap in care, researchers are evaluating two interventions to determine which one helps people get recommended NF1-related health screenings at their annual wellness visit with a primary care provider.
Methods: Participants (adult patients or parents) who enroll in the study will complete baseline survey assessments online before their PCP visit and then be randomized to one of two groups. Both groups will be given letters, one for themselves and one for their clinician, that describe NF1 care recommendations. After attending their annual wellness visit, all participants will be asked to complete an online follow-up survey. A small subsample of participants will also be asked to do a virtual qualitative interview. No visits to Massachusetts General Hospital are required for this study.
Study design
- Primary purpose
- Health services research
- Allocation
- Randomised
- Intervention model
- Parallel groups
- Masking
- Double blind (participant, care provider)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Intervention Arm | Experimental | Other: Letters about NF1 Care (Content Type 1) |
| Enhanced Usual Care Arm | Experimental | Other: Letters about NF1 Care (Content Type 2) |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (0 listed)
Key exclusion criteria (2 listed)
- Only one person per household may participate in the study
- Unwilling or unable to give informed consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Letters about NF1 Care (Content Type 1)Participants will receive two letters about NF1 care, one for themselves and one for their primary care clinician, to read in advance of the patient's annual wellness visit | Other | Intervention Arm |
| Letters about NF1 Care (Content Type 2)Participants will receive two letters about NF1 care, one for themselves and one for their primary care clinician, to read in advance of the patient's annual wellness visit | Other | Enhanced Usual Care Arm |
Primary outcome
Receipt of Recommended NF1 Health Screenings
Time frame: 2 weeks after PCP visit
Number of AAP and ACMG recommended health screenings received by the person with NF1 at the annual wellness visit with their PCP, as assessed by patient/parent self-report
4 secondary outcomes
Patient Activation Measure®
Time frame: At baseline and 2 weeks after PCP visit
Consumer Assessment of Healthcare Providers and Systems (CAHPS®) Clinician and Group Survey Version 4.0 (Beta): Rating of the Visit
Time frame: 2 weeks after PCP visit
Consumer Assessment of Healthcare Providers and Systems (CAHPS®) Clinician and Group Survey Version 4.0 (Beta): How Well Providers Communicate With Patients Subscale
Time frame: 2 weeks after PCP visit
Consumer Assessment of Healthcare Providers and Systems (CAHPS®) Clinician and Group Survey Version 4.0 (Beta): Providers' Use of Information to Coordinate Patient Care Subscale
Time frame: 2 weeks after PCP visit
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 21 Aug 2026.
- Background: PubMed 40241092Merker VL, Ma Y, Chibnik LB, Radtke HB, Kelts K, Yohay K, Ullrich NJ, Plotkin SR, Jordan JT. Self-reported access to specialty clinics and receipt of health surveillance among U.S. patients with neurofibromatosis 1: a national survey. Orphanet J Rare Dis. 2025 Apr 16;20(1):185. doi: 10.1186/s13023-025-03677-5.
- Background: PubMed 30157837Merker VL, Dai A, Radtke HB, Knight P, Jordan JT, Plotkin SR. Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis. BMC Health Serv Res. 2018 Aug 29;18(1):668. doi: 10.1186/s12913-018-3471-5.
- Background: PubMed 35144646Merker VL, Knight P, Radtke HB, Yohay K, Ullrich NJ, Plotkin SR, Jordan JT. Awareness and agreement with neurofibromatosis care guidelines among U.S. neurofibromatosis specialists. Orphanet J Rare Dis. 2022 Feb 10;17(1):44. doi: 10.1186/s13023-022-02196-x.
- Individual participant dataSharing planned: Yes. The investigators plan to submit their complete de-identified data set to the Patient-Centered Outcomes Data Repository (PCODR) at the Inter-university Consortium for Political and Social Research (ICPSR) per PCORI guidelines.
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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.
Vanessa Merker, PhD principal investigator
Massachusetts General Hospital
Scott Plotkin, MD, PhD principal investigator
Massachusetts General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Letters about NF1 Care (Content Type 1) and Letters about NF1 Care (Content Type 2) in people with Neurofibromatosis 1, run by Massachusetts General Hospital at 1 site 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 0 inclusion and 2 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 21 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
Receipt of Recommended NF1 Health Screenings (time frame: 2 weeks after PCP visit). 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 NCT06262113, which also lists 3 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 21 Aug 2026.