Clinical Research Directory

Motor Outcomes to Validate Evaluations in Pediatric FSHD (MOVE Peds)

The primary goal of this study is to validate motor and functional outcomes and refine clinical trial strategies for pediatric-onset FSHD

Clenbuterol to Target DUX4 in FSHD

The purpose of this study is to determine if Clenbuterol is a therapeutic option for FSHD by determining the safety and tolerability of the medication at three different dose levels.

BetterLife FSHD: A Patient-driven Health and Research Platform

BetterLife FSHD is a registry platform built to support people living with FSHD. It connects patients with personalized resources, tools, and research opportunities that match their health experiences and needs. At the same time, BetterLife collects secure health and experience data from patients to support research. This data is shared with researchers to help better understand FSHD and work toward improved care, treatments, and outcomes for the community. Learn more and enroll at: www.BetterLifeFSHD.org

Phase 1/2 Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)

A Randomized, Double-blind, Placebo-controlled, Phase 1/2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)

Magnetic Resonance Imaging and Ultrasound Comparison With Load Evaluation

Facioscapulohumeral dystrophy (FSHD) is one of the most common hereditary neuromuscular disorders (NMD), with an estimated prevalence of 2000 patients in the Netherlands. Magnetic resonance imaging (MRI) and muscle ultrasound have contributed to an enhanced understanding of the pathophysiology of Facioscapulohumeral Muscular Dystrophy (FSHD). Previously, our group demonstrated the potential presence of an intermediate factor between muscle fiber loss and clinical weakness in FSHD. The influence of disrupted muscle architecture in FSHD on muscle contractile efficiency is a likely candidate for this factor, and remains relatively unexplored. In this study, we aim to assess the use of ultrasound-defined contractile performance, in comparison with current measures including structural MRI, for monitoring disease progression in FSHD.

Phase 2 Open-label Extension Study of AOC 1020 in Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)

A Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)

Disease Burden and Living Situation of Patients With Facioscapulohumeral Muscular Dystrophy

The goal of this observational study is to learn the patient journey, disease burden, living situation, quality of life and etc. in patients with Facioscapulohumeral Muscular Dystrophy in all sex/gender and age groups. The main questions it aims to answer are: 1. What's the patient journey of patients with Facioscapulohumeral Muscular Dystrophy? 2. How does Facioscapulohumeral Muscular Dystrophy burden the patients? 3. How's the quality of life of patients with Facioscapulohumeral Muscular Dystrophy? Patients with Facioscapulohumeral Muscular Dystrophy will be asked to: 1. fill a questionnaire. 2. be interviewed and answer questions about their illness experience, economic burden, quality of life and etc. Medical experts on Facioscapulohumeral Muscular Dystrophy will be asked to be interviewed and answer questions about understanding on the disease and the patients.