A Decentralized Clinical Trial to Promote Evidence-Based Care for Underserved Patients With Neurofibromatosis 1

NCT ID: NCT06262113

Last Updated: 2025-10-03

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 294 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2024-12-03
• Study Completion Date: 2026-08-31

Brief 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 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.

Conditions

Neurofibromatosis 1

Study Design

• Allocation Method: RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: HEALTH_SERVICES_RESEARCH
• Blinding Strategy: DOUBLE

Study Groups

Intervention Arm

Group Type: EXPERIMENTAL

Letters about NF1 Care (Content Type 1)

Intervention Type: 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

Enhanced Usual Care Arm

Group Type: EXPERIMENTAL

Letters about NF1 Care (Content Type 2)

Intervention Type: 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

Interventions

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

Intervention Type: OTHER

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

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Currently lives in the United States (including Puerto Rico and other United States territories)
• Has a clinical diagnosis of neurofibromatosis 1
• Does not attend an NF clinic within the Children's Tumor Foundation NF Clinic Network
• Has an in-person, well-person visit with a primary care provider scheduled within 3 months of their consent
• Speaks English or Spanish

• Currently lives in the United States (including Puerto Rico and other United States territories)
• Cares for a child (age <18 years) with a clinical diagnosis of neurofibromatosis 1
• Does not attend an NF clinic within the Children's Tumor Foundation NF Clinic Network
• Their child has an in-person, well-person visit with a primary care provider scheduled within 3 months of their consent
• Speaks English or Spanish

Exclusion Criteria

• Only one person per household may participate in the study
• Unwilling or unable to give informed consent

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Patient-Centered Outcomes Research Institute

OTHER

Sponsor Role: collaborator

Massachusetts General Hospital

OTHER

Sponsor Role: lead

Responsible Party

Vanessa Merker, PhD

Assistant Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Vanessa Merker, PhD

Role: PRINCIPAL_INVESTIGATOR

Massachusetts General Hospital

Scott Plotkin, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Massachusetts General Hospital

Locations

Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Paulina Arias Hernandez, MSW

Role: CONTACT

pahernandez@mgb.org

6177245321

Evan Koch, BA

Role: CONTACT

eokoch@mgh.harvard.edu

6177249574

Facility Contacts

Paulina Arias Hernandez, MSW

Role: primary

pahernandez@mgb.org

617-724-5321

References

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.

Reference Type: BACKGROUND

PMID: 40241092 (View on PubMed)

Merker 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.

Reference Type: BACKGROUND

PMID: 30157837 (View on PubMed)

Merker 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.

Reference Type: BACKGROUND

PMID: 35144646 (View on PubMed)

Other Identifiers

AD-2022C2-24790

Identifier Type: OTHER_GRANT

Identifier Source: secondary_id

2024P000392

Identifier Type: -

Identifier Source: org_study_id