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FSHD2-INSIGHT
An 18-month prospective natural history study of FSHD2, to understand the pathophysiology and progression of the disease.
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ReSOLVE FSHD International
Clinical trial readiness to solve barriers to drug development in FSHD.
PROGRESS FSHD
Remote assessment and artificial intelligence to validate new measures, biomarkers and new therapeutic targets in facioscapulohumeral muscular dystrophy.
Resolve France Expansion – CTRN FSHD France
An 18-month prospective MRI study in facioscapulohumeral muscular dystrophy.
Chemical inhibition of SUMOylation activates the FSHD locus
Researchers in Marseille, in collaboration with a researcher from the Institute of Myology*, have investigated the epigenetic regulation of DUX4 expression—the protein responsible for muscle toxicity in facioscapulohumeral muscular dystrophy…
There are many lessons to be learned from the national registry dedicated to FSHD
The coordinators and contributors to the French National Observatory for Patients with Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) have taken an interest in unusual forms and presentations of the disease: from the…
Phase I study suggests safety and efficacy of growth hormone and testosterone combination therapy in FSHD
In the Phase I study called STARFISH, researchers at the University of Rochester evaluated the safety and potential efficacy of a combination treatment of recombinant human growth hormone (rHGH) and…
Results of a trial of creatine monohydrate in a paediatric population with FSHD
A randomised, double-blind, placebo-controlled trial was conducted in 13 children with facioscapulohumeral muscular dystrophy (FSHD) who received either creatine monohydrate or a placebo in a crossover design over two 12-week…
FSHD combined with genuine myositis: an intriguing association
A French study involving clinicians from the Institute of Myology reports several new and disturbing cases of patients with two co-existing neuromuscular pathologies: firstly, facioscapulohumeral muscular dystrophy (FSHD), proven by…
Atypical cases of FSHD type 1 sometimes conceal another condition
Researchers in Nice, in collaboration with several European teams, have compiled the clinical and genetic data of 157 patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) followed at their centre:…
The difficulty of interpreting SMCHD1 gene variants in FSHD
Clinicians and geneticists from the French network dedicated to facioscapulohumeral muscular dystrophy (FSHD), which includes clinicians from the Institut de Myologie, have provided an update on a rarer form of…
Registry data to evaluate respiratory function in FSHD
American researchers have used data from the national MD STARnet registry to study the prevalence and typology of respiratory disorders in patients with facioscapulohumeral muscular dystrophy (FSHD) : all ventilatory…
A natural history of FSHD established after five years of observation
Dutch researchers have designed a follow-up protocol for patients suffering from facioscapulohumeral muscular dystrophy (FSHD) in order to gain a better understanding of the natural history of this disease: 154…
Methylation studies to help with the molecular diagnosis of FSHD
The Italian consortium dedicated to facioscapulohumeral muscular dystrophy (FSHD) reports on its experience in integrating methylation studies into the routine diagnosis of this myopathy with an excessively complex pathophysiology: 218…
A case of immune-mediated necrotizing myopathy mimicking FSHD
Swiss clinicians report the clinical and histological data of a 72-year-old adult patient whose clinical presentation initially suggested facioscapulohumeral muscular dystrophy (FSHD): the patient suffered from a progressive asymmetric muscle…
An update on good practice in molecular biology for FSHD
Despite substantial advances in its pathophysiology, muscular dystrophy or facioscapulohumeral myopathy (FSHD) remains a complex muscular disease with at least two genes involved. An international consortium has revised the 2012…
Results of losmapimod and antioxidants in FSHD
New trial results have recently been published for facioscapulohumeral muscular dystrophy (FHSD). For losmapimod, they show that : in a phase II trial involving 80 people with FSHD1 aged between…
The importance of developing strategies to manage altered facial expression in FSH
Facial impairment is present in 75% of people with facioscapulohumeral muscular dystrophy (FSHD), and represents a significant psychosocial burden for a third. Given this distress, a team of Dutch clinicians…
Ultrasound versus MRI for FSHD
A comparison five years apart of ultrasound and MRI scans of five leg muscles from 20 people with facioscapulohumeral muscular dystrophy (FSHD), aged between 35 and 77, showed that: 95%…
More gastrointestinal and genitourinary disorders than expected in FSHD
The results of a survey on facioscapulohumeral myopathy (FSHD) carried out by the FSHD Society among 701 adult respondents highlighted : difficulties swallowing food at least once a week for…