Congenital myopathy MedDRA version: 20.0 Level: PT Classification code 10062547 Term: Congenital myopathy System Organ Class: 10010331 - Congenital, familial and genetic disorders
Conditions
Interventions
Trade Name: Ventoline tablet 2mg
Pharmaceutical Form: Tablet
INN or Proposed INN: SALBUTAMOL SULFATE
CAS Number: 51022-70-9
Concentration unit: mg milligram(s)
Concentration type: range
Concentration
Sponsors
Västra götalandsregionen
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: a) Signed informed consent from legal guardians/patients and patient (where applicable) b) Subject must have a confirmed CM diagnosis defined as: • Clinical symptoms consistent with CM with pathohistological findings on muscle biopsy and known genetic mutation consistent with CM OR • Clinical symptoms consistent with CM with unspecific pathohistological changes but known genetic mutation consistent with CM c. Stabile on MFM 32 over at least 6 months ( between baseline and screening visit. An increase or decrease of the total score of max 2 points between baseline and screening visit will be allowed. d. At least 1 point on MFM32 on screening visit e. If on other medications that can affect motor function in the opinion of the investigator- stabile dose for 2 months prior to start f. 6 years of age to 30 years of age g. Women of fertile age can be on oral contraceptives h. Subjects must have had cardiac evaluation with ECG and 2D echocardiography in the last 2 years, with no signs or symptoms of cardiac abnormality. Are the trial subjects under 18? yes Number of subjects for this age range: 15 F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range 5 F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: a) Subject with clinical symptoms consistent with congenital myopathy but has no confirmed genetic mutation and only unspecific changes on muscle biopsy that are not confined to just congenital myopathy but can be seen in other disorders. b) Younger than 6 years of age and older than 30 years. c) Subject receives 94 or more points on MFM32 test at screening visit. d) Subject doesn’t not speak Swedish and a translator is needed in order to perform the tests included in the study. e) Subject receives no point on MFM 32 test at screening (baseline 2) f) Subject smokes more than 10 cigarettes a day or has smoked more that 10 cigarettes in the last year before the study start g) Subject has tracheostomy h) Subject has other concomitant chronic diagnosis that can affect the patients motor function, in the opinion of the investigator i) Subject is currently or has been on oral corticosteroids in the last 6 months j) Subject has arrhythmia as seen on ECG, confirmed by cardiologist k) Subject has cardiomyopathy as seen on ultrasound, confirmed by cardiologist l) Subject has severe behavioral and/ cognitive problems that preclude participation in the study, in the opinion of the investigator; m) Subject is allergic or hypersensitive to study drug or any of its constituents n) Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator; o) Subject is currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to the first dose of study medication. p) Subject is planning on participating in any other study during the duration of this study. q) Female subjects of fertile age that are pregnant or are planning to become pregnant during the study. r) Female subjects that have given birth upto 1 year prior to first baseline visit and/or are nursing upto 1 month prior to first baseline visit. s)Subject has a fracture in the last 6 months before the study start or has acquired a fracture during the study.The fracture needs to be on a body part that can affect our study tests and results, in the opinion of the investigator. .
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: We want to investigate if daily intake of oral salbutamol can increase the total score of muscle function measure 32 test in a group of congenital myopathy subjects after 6 months on treatment as compared to having no treatment.;Secondary Objective: 1)Increased walking distance during 6-minute walking test after 6 months of treatment 2)Less fatigability during physical activity after 6 months of treatment: assessed by comparing subjects speed (m/min) during the first and last minute of 6 minute walking test 3)Decreased time needed to complete timed function tests (10 m walk/run, 4 steps and down) after 6 months treatment 4)Increased hand strength on hand held myometry after 6 months on treatment. 5)Less fatigability in upper extremities during physical examination: assessed with 5 consecutive 9 hole peg tests, where time of completion of first set is compared with time of completion of the last set. 6)Increase in forced vital capacity both sitting and lying down after 6 months of treatment 7)Improvement of quality of life after 6 months of treatment ;Primary end point(s): Increase of MFM32 test with at least 3 points after 6 months of treatment as compared to no treatment;Timepoint(s) of evaluation of this end point: -6months, 0 (randomization, study start), 6 months, 7 months and 13 months after randomization E. | — |
Secondary
| Measure | Time frame |
|---|---|
| Secondary end point(s): 1) Increased walking distance during 6-minute walking test after 6 months of treatment 2) Less fatigability during physical activity after 6 months of treatment: assessed by comparing subjects speed (m/min) during the first and last minute of 6 minute walking test 3) Decreased time needed to complete timed function tests (10 m walk/run, 4 steps and down) after 6 months treatment 4) Increased hand strength on hand held myometry after 6 months on treatment. 5) Less fatigability in upper extremities during physical examination: assessed with 5 consecutive 9 hole peg tests, where time of completion of first set is compared with time of completion of the last set. 6) Increase in forced vital capacity both sitting and lying down after 6 months of treatment 7) Improvement of quality of life after 6 months of treatment;Timepoint(s) of evaluation of this end point: -6months, 0 (randomization, study start), 6 months, 7 months and 13 months after randomization E. | — |
Countries
Sweden
Contacts
Public ContactBarnneurologen, DSBUS
Västra götalandsregionen
Outcome results
None listed