Patient reported outcome measures in spinal muscular atrophy and duchenne muscular dystrophy: review of instruments and their inclusion in clinical and regulatory processes.

ABSTRACT:

Objectives

This study aims to analyze the use of patient-reported outcomes measures (PROMs), observer-reported outcome measures (ObsROMs), and caregiver-reported outcome measures (CROMs) in spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD). The objectives are twofold: (1) to identify and characterize available instruments to be used in research and clinical practice, and (2) to assess their inclusion in drug development and regulatory assessment processes.

Methods

A systematic search was conducted using PubMed, Google Scholar, Scopus, and the ePROVIDE database to identify PROMs, ObsROMs, and CROMs for SMA and DMD. The identified instruments were analyzed for validation, psychometric properties, Minimal Clinically Important Difference (MCID), and recall peri

SUBMITTER: Malandrini F 

PROVIDER: S-EPMC12901088 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature