This study is testing a medicine called surlorian in adults who have a genetic muscle condition known as autosomal dominant RYR1-related myopathy (RYR1-RM). The goal is to find out whether surlorian improves muscle weakness, and whether it is safe and well tolerated.
The study is taking place at several medical centers with doctors who specialize in treating people with RYR1-RM. Everyone in the study will receive both surlorian and a placebo (a "dummy" treatment) at different times, but neither the participants nor the study staff will know which one they are getting during each period. During Treatment period 1, participants will be randomly assigned to receive either surlorian or a placebo, which will be followed up by a washout period. Following the washout, in Treatment period 2, participants will switch and receive the opposite treatment from what they received in the first period. This main part of the study lasts about 16 weeks. After finishing the main, placebo-controlled part of the study participants may be able to join an open-label extension lasting approximately 12 months. In this extension, everyone receives surlorian.
Study Type
INTERVENTIONAL
Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
DOUBLE
Enrollment
28
AP-HM- Hôpital de La Timone
Marseille, Bouches-du-Rhône, France
Institut de Myologie - Hôpital de La Pitié-Salpétrière
Paris, France
Universitätsklinikum Ulm
Ulm, Baden-Wurttemberg, Germany
Change from baseline in the 1-minute sit-to-stand test (1-MSST)
Time frame: Day 1 to day 28 [approximately]
Change from baseline in the 6-Minute Walk Test (6-MNWT)
Time frame: Day 1 to day 28 [approximately]
Change from baseline in the Timed Up and Go Test (TUG)
Time frame: Day 1 to day 28 [approximately]
Change from baseline in the 4-Stair Climb Test (4-SCT)
Time frame: Day 1 to day 28 [approximately]
Change from baseline Quantitative Muscle Assessment (QMA)
Time frame: Day 1 to day 28 [approximately]
Change from baseline Manual Muscle Testing (MMT)
Time frame: Day 1 to day 28 [approximately]
Change from baseline in Patient-Reported Outcomes Measurement Information System-fatigue (PROMIS-F)
Time frame: Day 1 to day 28 [approximately]
Change from baseline in Patient-Reported Outcomes Measurement Information System-physical fatigue (PROMIS-PF)
Time frame: Day 1 to day 28 [approximately]
Chage in International Physical Activity Questionnaire (IPAQ)
Time frame: Day 1 to day 28 [approximately]
Number of Adverse Events
Time frame: Day 1 to end of study [approximately 68 weeks]
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Charité - Campus Berlin Buch
Berlin, State of Berlin, Germany
Radboud Universitair Medisch Centrum
Nijmegen, Gelderland, Netherlands
Hospital Universitario Vall d'Hebron - PPDS
Barcelona, Barcelona, Spain
Hospital Universitario de Donostia
San Sebastián, Guipúzcoa, Spain
The Robert Jones and Agnes Hunt Orthopaedic Hospital
Oswestry, Shropshire, United Kingdom
University College Hospital - PPDS
London, United Kingdom
Change from baseline in systolic blood pressure
Systolic blood pressure will be measured in millimeters of mercury (mmHg)
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in diastolic blood pressure
Diastolic blood pressure will be measured in millimeters of mercury (mmHg)
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in temperature
Temperature will be measured in degrees Centigrade (°C)
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in hemoglobin
Hemoglobin concentration will be measured in grams per liter (g/L) using standard hematology laboratory methods
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in white blood cell count
White blood cell count will be measured in ×10⁹/L using standard hematology laboratory methods
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in platelet count
Platelet count will be measured in ×10⁹/L using standard hematology laboratory methods
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in serum creatinine
Serum creatinine will be measured in micromoles per liter (µmol/L) using standard clinical chemistry methods
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in estimated glomerular filtration rate
Estimated glomerular filtration rate (eGFR) will be calculated from serum creatinine using the Chronic Kidney Disease Epidemiology Collaboration equation
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in serum glucose
Serum glucose concentration will be measured in millimoles per liter (mmol/L) using standard clinical chemistry methods
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in QTc interval
Corrected QT interval (QTcF) will be measured in milliseconds using triplicate 12-lead electrocardiograms
Time frame: Day 1 to end of study [approximately 68 weeks]
Change from baseline in urine protein
Urine protein will be measured in milligrams per liter (mg/L) using standard urinalysis methods
Time frame: Day 1 to end of study [approximately 68 weeks]