Merker VL, Ahlawat S, Avery RA, Bradford D, Gross AM, Janusz J, Lessing AJ, Manth L, McManus ML, Oberlander B, Pichard DC, Riter W, Sarin KY, Sheard S, Sundby RT, Walsh KS, Wolters PL, Widemann BC, Plotkin SR
Abstract
Background: In decentralized clinical trials, some or all activities occur outside of traditional sites, which may reduce time away from school/work and decrease participation burden for patients and their parents/caregivers. This methodology may improve recruitment and retention in studies, which is important for rare diseases like neurofibromatosis type 1 (NF1) and schwannomatosis (SWN). Published guidance exists for the general conduct of decentralized trials, but specific considerations for clinical trial design and endpoints in NF1/SWN have not yet been explored.
Methods: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration is a group of researchers, clinicians, and people affected by NF1 and SWN whose shared goal is to advance clinical trial methodology for NF1/SWN. In December 2023, REiNS members met to discuss the opportunities and challenges of conducting NF1/SWN decentralized trials.
Results: Endpoints that are promising for use in NF1/SWN decentralized trials include visual acuity (as tested by the computerized amblyopia treatment study HOTV testing algorithm); electronic versions of REiNS-recommended patient-reported outcome measures; digital health technologies for functional outcomes; radiography and computed tomography scans for imaging outcomes; remote photography to assess cutaneous neurofibromas; "e-centralized" evaluations of neurocognitive functioning; and remote biomarkers collected with analyte stabilizing tubes and self-collection devices.
Conclusions: Further research is necessary to validate endpoints for decentralized trials for NF1/SWN and evaluate their feasibility. However, trial designs that incorporate decentralized elements hold considerable promise for rare diseases like NF1/SWN where patients encounter significant barriers to traditional clinical trial participation.
December 2023 — decentralized trial design focusREiNS consortium meeting
HOTV computerized testing — remote-capablePromising endpoint: visual acuity
Electronic versions of REiNS-recommended PROsPromising endpoint: patient-reported outcomes
Analyte stabilizing tubes + remote self-collectionPromising endpoint: biomarkers
CTF, NF Northeast, NF Midwest, NF Michigan, NF North Central, NIH, Gilbert Family FoundationFunded by
July 31, 2026 — Cancers (MDPI, open access)Published
