Oculopharyngeal Muscular Dystrophy
Conditions
Keywords
Case control, safety, tolerability, efficacy.
Brief summary
The Purpose of this study is to assess the Safety, Tolerability and Efficacy of Intravenous Cabaletta® in Oculopharyngeal Muscular Dystrophy (OPMD) Patients.
Interventions
DRUGCabaletta
Sponsors
Bioblast Pharma Ltd.
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
No
Inclusion criteria
* Males and females * 18 - 80 years (inclusive) of age * Clinically and genetically diagnosed as OPMD * Moderate dysphagia (abnormal drinking test at screening and on the first dosing day, before drug administration) * Patients who provide written informed consent to participate in the study * Body Mass Index (BMI) \<30 kg/m2
Exclusion criteria
* Diabetes mellitus type 1 or 2 * Other major diseases, e.g.: renal failure (creatinine clearance \<60ml/min), liver failure and chronic liver diseases (e.g. hepatitis B or C) , HIV carriers, tuberculosis, SLE, rheumatoid polyarthritis, sarcoidosis, collagenosis * Uncontrolled heart disease , CHF, * Other neuromuscular diseases * Other disorders associated with esophageal dysphagia: e.g. severe gastroesophageal reflux (GERD), esophageal stricture due to mechanical or chemical trauma, infection (e.g. esophageal moniliasis), drug-induced dysphagia (e.g. bisphosphonates), esophageal rings and webs, spastic motility disorders of the esophagus. * History of malignancy (except non-invasive skin malignancy) * History of neck irradiation * Pregnant or currently lactating women * Obesity (BMI≥ 30) and associated morbidity * Prior pharyngeal myotomy * Weight loss of more than 10% in the last 12 months. * Known hypersensitivity to any ingredients in the injection * Patient receiving anticoagulant treatment (e.g. warfarin)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Safety Lab Evaluations | 24 weeks | Change from baseline in safety labs including hematology, coagulation, chemistry, renal function, and liver function tests at week 24 . |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Drinking Test Score | 24 weeks | Change from baseline in ice water drinking time, in seconds, at week 24. Times greater than 8 seconds to complete the drinking test are considered abnormal. |
| Videofluoroscopy (VFS) Score | 24 Weeks | Penetration aspiration score results assessed by VFS comparing baseline, prior to treatment, to week 24. This is an 8 point scale. The higher the number the greater the risk of aspiration. The result reported is the difference from the baseline scores. |
| SWAL-QOL, Swallowing Quality of Life Questionnaire | 28 weeks | Summary of Quality of Life in Swallowing Disorders total symptom score results over time, change from baseline at weeks 12 and 24 This is a 100 point scale. The higher the number the better the quality of life. |
Countries
Canada, Israel, United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Cabaletta 30gr. weekly IV of Cabaletta 30gr.
Cabaletta | 25 |
| Total | 25 |
Withdrawals & dropouts
| Period | Reason | FG000 |
|---|---|---|
| Overall Study | Death | 1 |
Baseline characteristics
| Characteristic | Cabaletta 30gr. |
|---|---|
| Age, Categorical <=18 years | 0 Participants |
| Age, Categorical >=65 years | 5 Participants |
| Age, Categorical Between 18 and 65 years | 20 Participants |
| Age, Continuous | 59.5 years STANDARD_DEVIATION 8.34 |
| Region of Enrollment Canada | 11 participants |
| Region of Enrollment Israel | 14 participants |
| Sex: Female, Male Female | 13 Participants |
| Sex: Female, Male Male | 12 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | 1 / 25 |
| other Total, other adverse events | 25 / 25 |
| serious Total, serious adverse events | 2 / 25 |
Outcome results
Primary
Safety Lab Evaluations
Change from baseline in safety labs including hematology, coagulation, chemistry, renal function, and liver function tests at week 24 .
Time frame: 24 weeks
Population: 24 patients were available for analysis at week 24. Not all patients had all labs performed. Missing data accounts for the differing number of patients with specific lab values.
| Arm | Measure | Group | Value (MEAN) | Dispersion |
|---|---|---|---|---|
| Cabaletta 30gr. | Safety Lab Evaluations | White Blood Cell Count | -4.0 percentage change from baseline | Standard Deviation 16.69 |
| Cabaletta 30gr. | Safety Lab Evaluations | Red Blood Cell Count | 0.1 percentage change from baseline | Standard Deviation 0.42 |
| Cabaletta 30gr. | Safety Lab Evaluations | Hemoglobin | 0.2 percentage change from baseline | Standard Deviation 7.98 |
| Cabaletta 30gr. | Safety Lab Evaluations | Hematocrit | 1.1 percentage change from baseline | Standard Deviation 9.28 |
| Cabaletta 30gr. | Safety Lab Evaluations | Platelets | -0.5 percentage change from baseline | Standard Deviation 13.42 |
| Cabaletta 30gr. | Safety Lab Evaluations | Alanine Aminotransferase | -0.8 percentage change from baseline | Standard Deviation 34.59 |
| Cabaletta 30gr. | Safety Lab Evaluations | Aspartate Aminotransferase | -5.7 percentage change from baseline | Standard Deviation 30.93 |
| Cabaletta 30gr. | Safety Lab Evaluations | Creatinine phosphokinase | 6.8 percentage change from baseline | Standard Deviation 37.12 |
| Cabaletta 30gr. | Safety Lab Evaluations | Gamma-Glutamyl Transferase | 9.3 percentage change from baseline | Standard Deviation 28.73 |
| Cabaletta 30gr. | Safety Lab Evaluations | Total Bilirubin | 37.2 percentage change from baseline | Standard Deviation 46.02 |
| Cabaletta 30gr. | Safety Lab Evaluations | Glucose | 12 percentage change from baseline | Standard Deviation 15.93 |
| Cabaletta 30gr. | Safety Lab Evaluations | Lactose Dehydrogenase | 23 percentage change from baseline | Standard Deviation 0.9 |
| Cabaletta 30gr. | Safety Lab Evaluations | Prothrombin Time | 7.1 percentage change from baseline | Standard Deviation 12.62 |
| Cabaletta 30gr. | Safety Lab Evaluations | International Normalized Ratio | 1.3 percentage change from baseline | Standard Deviation 8.48 |
Secondary
Drinking Test Score
Change from baseline in ice water drinking time, in seconds, at week 24. Times greater than 8 seconds to complete the drinking test are considered abnormal.
Time frame: 24 weeks
Population: 22 patients had data available for analysis at week 24
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Cabaletta 30gr. | Drinking Test Score | -33.8 percentage change from baseline | Standard Deviation 34.89 |
Secondary
SWAL-QOL, Swallowing Quality of Life Questionnaire
Summary of Quality of Life in Swallowing Disorders total symptom score results over time, change from baseline at weeks 12 and 24 This is a 100 point scale. The higher the number the better the quality of life.
Time frame: 28 weeks
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Cabaletta 30gr. | SWAL-QOL, Swallowing Quality of Life Questionnaire | 12.4 percentage change from baseline | Standard Deviation 16.87 |
Secondary
Videofluoroscopy (VFS) Score
Penetration aspiration score results assessed by VFS comparing baseline, prior to treatment, to week 24. This is an 8 point scale. The higher the number the greater the risk of aspiration. The result reported is the difference from the baseline scores.
Time frame: 24 Weeks
Population: 11 patients had valid baseline data and week 24 data
| Arm | Measure | Value (MEAN) | Dispersion |
|---|---|---|---|
| Cabaletta 30gr. | Videofluoroscopy (VFS) Score | 0.1 Points on an 8 point scale | Standard Deviation 1.27 |