Back to resultsTreatment of Oculopharyngeal Muscular Dystrophy With Trehalose
Primary Purpose
Oculopharyngeal Muscular Dystrophy
Status
Withdrawn
Phase
Phase 2
Locations
Canada
Study Type
Interventional
Intervention
Trehalose
Sponsored by
About this trial
This is an interventional treatment trial for Oculopharyngeal Muscular Dystrophy focused on measuring OPMD, DMOP, Dysphagia
Eligibility Criteria
Inclusion Criteria:
- Genetically confirmed OPMD with a (GCN)13 size PABPN1 mutation
- A score greater than 235 on the Sydney Swallow Questionnaire at screening
- Confirmation of oropharyngeal dysfunction by abnormal ice-cold water drinking test result, defined as drinking 80 cc of ice-cold water in ≥ 8 seconds at both drinking tests (at least 1 week apart) during the screening period
Exclusion Criteria:
- History of pharyngeal myotomy.
- Esophageal dilatation within the last 12 months.
- Treatment with botulinum toxin (any location) within 1 year prior to screening.
- Diagnosis of any other muscle disorder.
- Prior head and neck surgery or radiation.
- Oropharyngeal injury or oropharyngeal cancer.
- Other esophageal disease that may be the cause of the dysphagia.
- Previously diagnosed with diabetes or a hemoglobin A1c (HgbA1c) result > 6.0% at screening.
- Prior treatment with IV trehalose.
- Known hypersensitivity to trehalose.
- Non-ambulatory (Use of a cane or short leg braces are permitted).
- Prior history of stroke (ischemic or hemorrhagic).
- Pregnancy or breast feeding.
- History of alcohol or drug abuse within the last 5 years.
- Evidence of hepatitis B, hepatitis C, or HIV infection at screening.
- Currently receiving anti-coagulant treatment (e.g., warfarin, enoxaparin) other than anti-platelet treatments, which are not a reason for exclusion.
- Currently participating in another clinical trial or has completed an interventional trial less than 90 days prior to planned first dosing.
Sites / Locations
- Ecogene-21
- Montreal Neurological Institute and Hospital
- CHU de Québec-Université Laval- Hôpital Enfant-Jésus
Arms of the Study
Arm 1
Arm 2
Arm Type
Experimental
Placebo Comparator
Arm Label
Trehalose
0.9% Normal Saline
Arm Description
Trehalose 9% solution: The dose is 0.75 g/kg administered IV over 60 ± 5 minutes once weekly.
Normal saline: weight-based volume administered IV over 60 ± 5 minutes once weekly.
Outcomes
Primary Outcome Measures
Drinking Test Time
Change from baseline in timed drinking tests with 80 cc of ice-cold water and nectar.
Secondary Outcome Measures
Muscle Strength Testing
Change from baseline in strength tests in selected muscle groups as measured by a handheld dynamometer
Stair Climb Test
Change from baseline in functional muscle testing as measured by the Stair Climb test
Timed Up and Go Test
Change from baseline in functional muscle testing as measured by the Timed Up and Go (TUG) test
30-Second Lift Test
Change from baseline in functional muscle testing as measured by 30-Second Lift test
EuroQol-5D-5L
Change from baseline in health status using the EuroQol-5D-5L Questionnaire
Swallowing Quality of Life
Change from baseline in quality of life using modified Swallowing Quality of Life Questionnaire
Sydney Swallow Questionnaire
Change from baseline in quality of life using Sydney Swallow Questionnaire
Full Information
1. Study Identification
Unique Protocol Identification Number
NCT04226924
Brief Title
Treatment of Oculopharyngeal Muscular Dystrophy With Trehalose
Official Title
A Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Trial of Trehalose for the Treatment of
Study Type
Interventional
2. Study Status
Record Verification Date
January 2020
Overall Recruitment Status
Withdrawn
Why Stopped
Lack of funding for company
Study Start Date
June 15, 2017 (Actual)
Primary Completion Date
February 15, 2018 (Anticipated)
Study Completion Date
August 15, 2018 (Anticipated)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Bioblast Pharma Ltd.
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes
5. Study Description
Brief Summary
BB-OPMD-202 is a randomized, double-blind, placebo-controlled study of IV trehalose for treatment of OPMD. The study includes a 4-week screening period, a 24-week blinded treatment period during which patients will receive weekly infusions of trehalose or placebo, followed by a 24-week open-label extension period during which all patients will receive weekly infusions of trehalose. Patients will undergo a safety follow-up assessment 4 weeks after their last treatment.
Detailed Description
After signing informed consent, patients will undergo two rounds of ice-cold water and nectar drinking tests at least 1 week apart to confirm oropharyngeal dysfunction. Patients who have confirmed oropharyngeal dysfunction, i.e., an ice-cold water drinking test time of 8 seconds or greater at both rounds, in addition to an SSQ score of >235, will be enrolled. Baseline values for all safety and efficacy parameters will be established during the screening period. Patients will be randomized in a 1:1 ratio, to trehalose or placebo, at the time of enrollment. Randomization will be stratified according to the patient's score on the SSQ at screening (≤ 799 or ≥ 800).
Patients randomized to trehalose will receive a 1-hour IV infusion of trehalose at a dose of 0.75 g/kg weekly for 24 weeks. Patients randomized to placebo (normal saline) will receive a weight-based equal volume of placebo weekly for 24 weeks.
After Week 24, patients may transition to an open-label extension of the study (extension period). During the extension period, patients will be treated with weekly infusion of trehalose at a dose of 0.75 g/kg for 24 weeks, followed by a 4-week safety follow-up (total duration of study = 56 weeks).
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Oculopharyngeal Muscular Dystrophy
Keywords
OPMD, DMOP, Dysphagia
7. Study Design
Primary Purpose
Treatment
Study Phase
Phase 2
Interventional Study Model
Crossover Assignment
Model Description
The study includes a 24-week blinded treatment period during which patients will receive weekly infusions of trehalose or placebo, followed by a 24-week open-label extension period during which all patients will receive weekly infusions of trehalose.
Masking
ParticipantCare ProviderInvestigatorOutcomes Assessor
Masking Description
The Treatment Period of the study is double-blind. The Extension Period is open label.
Allocation
Randomized
Enrollment
0 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Trehalose
Arm Type
Experimental
Arm Description
Trehalose 9% solution: The dose is 0.75 g/kg administered IV over 60 ± 5 minutes once weekly.
Arm Title
0.9% Normal Saline
Arm Type
Placebo Comparator
Arm Description
Normal saline: weight-based volume administered IV over 60 ± 5 minutes once weekly.
Intervention Type
Drug
Intervention Name(s)
Trehalose
Intervention Description
90 mg/ml trehalose solution for IV infusion
Primary Outcome Measure Information:
Title
Drinking Test Time
Description
Change from baseline in timed drinking tests with 80 cc of ice-cold water and nectar.
Time Frame
24 weeks
Secondary Outcome Measure Information:
Title
Muscle Strength Testing
Description
Change from baseline in strength tests in selected muscle groups as measured by a handheld dynamometer
Time Frame
24 weeks
Title
Stair Climb Test
Description
Change from baseline in functional muscle testing as measured by the Stair Climb test
Time Frame
24 weeks
Title
Timed Up and Go Test
Description
Change from baseline in functional muscle testing as measured by the Timed Up and Go (TUG) test
Time Frame
24 weeks
Title
30-Second Lift Test
Description
Change from baseline in functional muscle testing as measured by 30-Second Lift test
Time Frame
24 weeks
Title
EuroQol-5D-5L
Description
Change from baseline in health status using the EuroQol-5D-5L Questionnaire
Time Frame
24 weeks
Title
Swallowing Quality of Life
Description
Change from baseline in quality of life using modified Swallowing Quality of Life Questionnaire
Time Frame
24 weeks
Title
Sydney Swallow Questionnaire
Description
Change from baseline in quality of life using Sydney Swallow Questionnaire
Time Frame
24 weeks
10. Eligibility
Sex
All
Minimum Age & Unit of Time
50 Years
Maximum Age & Unit of Time
70 Years
Accepts Healthy Volunteers
No
Eligibility Criteria
Inclusion Criteria:
Genetically confirmed OPMD with a (GCN)13 size PABPN1 mutation
A score greater than 235 on the Sydney Swallow Questionnaire at screening
Confirmation of oropharyngeal dysfunction by abnormal ice-cold water drinking test result, defined as drinking 80 cc of ice-cold water in ≥ 8 seconds at both drinking tests (at least 1 week apart) during the screening period
Exclusion Criteria:
History of pharyngeal myotomy.
Esophageal dilatation within the last 12 months.
Treatment with botulinum toxin (any location) within 1 year prior to screening.
Diagnosis of any other muscle disorder.
Prior head and neck surgery or radiation.
Oropharyngeal injury or oropharyngeal cancer.
Other esophageal disease that may be the cause of the dysphagia.
Previously diagnosed with diabetes or a hemoglobin A1c (HgbA1c) result > 6.0% at screening.
Prior treatment with IV trehalose.
Known hypersensitivity to trehalose.
Non-ambulatory (Use of a cane or short leg braces are permitted).
Prior history of stroke (ischemic or hemorrhagic).
Pregnancy or breast feeding.
History of alcohol or drug abuse within the last 5 years.
Evidence of hepatitis B, hepatitis C, or HIV infection at screening.
Currently receiving anti-coagulant treatment (e.g., warfarin, enoxaparin) other than anti-platelet treatments, which are not a reason for exclusion.
Currently participating in another clinical trial or has completed an interventional trial less than 90 days prior to planned first dosing.
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Bernard Brais, MD
Organizational Affiliation
McGill University
Official's Role
Principal Investigator
Facility Information:
Facility Name
Ecogene-21
City
Chicoutimi
State/Province
Quebec
ZIP/Postal Code
G7H 7K9
Country
Canada
Facility Name
Montreal Neurological Institute and Hospital
City
Montréal
State/Province
Quebec
ZIP/Postal Code
H3A 2B4
Country
Canada
Facility Name
CHU de Québec-Université Laval- Hôpital Enfant-Jésus
City
Québec
State/Province
Quebec
ZIP/Postal Code
G1J 1Z4
Country
Canada
12. IPD Sharing Statement
Plan to Share IPD
No
Learn more about this trial
Treatment of Oculopharyngeal Muscular Dystrophy With Trehalose
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