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

NCT06262113 | Recruiting

• 2 other identifiers: 2024P000392AD-2022C2-24790
• Study Type: interventional
• Target: 294
• Locations: 1 country
• Sites: 1

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

Conditions

Neurofibromatosis 1

Keywords

Neurofibromatosis; NF1; Guideline; Healthcare; PCP; Parent; Pediatric; Primary Care; Annual Care; Physical Exam; Well-Child

Outcome Measures

Primary Outcomes (1)

• 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

  2 weeks after PCP visit

Secondary Outcomes (4)

• Patient Activation Measure®

  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

  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

  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

  2 weeks after PCP visit

Study Arms (2)

Intervention Arm

EXPERIMENTAL

Other: Letters about NF1 Care (Content Type 1)

Enhanced Usual Care Arm

EXPERIMENTAL

Other: Letters about NF1 Care (Content Type 2)

Interventions

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

Intervention Arm

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

Enhanced Usual Care Arm

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Massachusetts General Hospital: lead
• Patient-Centered Outcomes Research Institute: collaborator

Study Sites (1)

Massachusetts General Hospital

Boston, Massachusetts, 02114, United States

RECRUITING

Related Publications (3)

• 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.

  PMID: 40241092 BACKGROUND

• 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.

  PMID: 30157837 BACKGROUND

• 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.

  PMID: 35144646 BACKGROUND

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibromatoses

Condition Hierarchy (Ancestors)

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; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Vanessa Merker, PhD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

• Scott Plotkin, MD, PhD

  Massachusetts General Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Paulina Arias Hernandez, MSW

CONTACT

6177245321; pahernandez@mgb.org

Evan Koch, BA

CONTACT

6177249574; eokoch@mgh.harvard.edu

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: DOUBLE
• Who Masked: PARTICIPANT, CARE PROVIDER
• Purpose: HEALTH SERVICES RESEARCH
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Investigator

Study Record Dates

• First Submitted: January 30, 2024
• First Posted: February 15, 2024
• Study Start: December 3, 2024
• Primary Completion (Estimated): June 1, 2026
• Study Completion (Estimated): August 1, 2026
• Last Updated: October 3, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Time Frame: The PCORI-designated repository will make the data available for third-party requests when PCORI makes the Final Research Report available on the PCORI website pursuant to PCORI's Process for Peer Review of Primary Research and Public Release of Research Findings, or at the time of publication of the research project's primary results in a peer-reviewed journal, whichever comes first.
• Access Criteria: Individual investigators or teams of investigators seeking access to data from PCORI-funded studies must complete and submit a data request form to the PCORI-designated repository.

Locations

US (1)