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View article: A toolkit for new facioscapulohumeral muscular dystrophy trial sites
A toolkit for new facioscapulohumeral muscular dystrophy trial sites Open
Numerous potential treatments are being developed for facioscapulohumeral muscular dystrophy (FSHD). Project Mercury was initiated to overcome challenges that could slow or prevent effective therapies from widespread availability to patien…
View article: The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study
The participants’ perspective on facioscapulohumeral muscular dystrophy trials in The Netherlands – A qualitative study Open
Background: Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary muscle disease without an available cure. The first trials with potentially disease-modifying therapies have started, including a phase ll open-label study and a pha…
View article: A 5‐year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials
A 5‐year natural history cohort of patients with facioscapulohumeral muscular dystrophy determining disease progression and feasibility of clinical outcome assessments for clinical trials Open
Introduction/Aims The number of clinical trials in facioscapulohumeral muscular dystrophy (FSHD) is expected to increase in the near future. There is a need for clinical outcome assessments (COAs) that can capture disease progression over …
View article: An open-label pilot study of losmapimod to evaluate the safety, tolerability, and changes in biomarker and clinical outcome assessments in participants with facioscapulohumeral muscular dystrophy type 1
An open-label pilot study of losmapimod to evaluate the safety, tolerability, and changes in biomarker and clinical outcome assessments in participants with facioscapulohumeral muscular dystrophy type 1 Open
Losmapimod was well tolerated and may be a promising new treatment for FSHD; a larger phase 3 study is ongoing.
View article: Oral ribose supplementation in dystroglycanopathy: A single case study
Oral ribose supplementation in dystroglycanopathy: A single case study Open
Three forms of muscular dystrophy‐dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain‐containing protein ( ISPD ), fukutin‐related protein ( FKRP ), and fukutin ( FKTN ) genes. …
View article: The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes
The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes Open
Facioscapulohumeral dystrophy (FSHD) is the second most prevalent inherited muscular disorder and currently lacks a pharmaceutical treatment. The Dutch FSHD Registry was initiated in 2015 as a result of an international collaboration on tr…
View article: Assessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy
Assessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy Open
Muscle biopsies are used in clinical trials to measure target engagement of the investigational product. With many upcoming therapies for patients with facioscapulohumeral dystrophy (FSHD), the frequency of biopsies in FSHD patients is exp…
View article: Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI
Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI Open
This study provides Class II evidence that quantitative WB-MSK-MRI findings associate with FSHD1 severity measured using established functional assessments.