Treatment of Oculopharyngeal Muscular Dystrophy With Trehalose

Oculopharyngeal Muscular Dystrophy Clinical Trial

Official title:

A Randomized, Double-Blind, Placebo-Controlled Efficacy and Safety Trial of Trehalose for the Treatment of

Clinical Trial Details — Status: Withdrawn

Administrative data

• NCT number: NCT04226924
• Other study ID #: BB-OPMD-202
• Status: Withdrawn
• Phase: Phase 2
• Start date: June 15, 2017
• Est. completion date: August 15, 2018

Study information

• Verified date: January 2020
• Source: Bioblast Pharma Ltd.
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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).

Recruitment information / eligibility

• Status: Withdrawn
• Enrollment: 0
• Est. completion date: August 15, 2018
• Est. primary completion date: February 15, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 50 Years to 70 Years

Eligibility

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.

Related Conditions & MeSH terms

• Muscular Dystrophies
• Muscular Dystrophy, Oculopharyngeal
• Oculopharyngeal Muscular Dystrophy

Intervention

Drug:
• Trehalose
90 mg/ml trehalose solution for IV infusion

Locations

Country	Name	City	State
Canada	Ecogene-21	Chicoutimi	Quebec
Canada	Montreal Neurological Institute and Hospital	Montréal	Quebec
Canada	CHU de Québec-Université Laval- Hôpital Enfant-Jésus	Québec	Quebec

Sponsors (1)

Lead Sponsor	Collaborator
Bioblast Pharma Ltd.

Country where clinical trial is conducted

Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Drinking Test Time	Change from baseline in timed drinking tests with 80 cc of ice-cold water and nectar.	24 weeks
Secondary	Muscle Strength Testing	Change from baseline in strength tests in selected muscle groups as measured by a handheld dynamometer	24 weeks
Secondary	Stair Climb Test	Change from baseline in functional muscle testing as measured by the Stair Climb test	24 weeks
Secondary	Timed Up and Go Test	Change from baseline in functional muscle testing as measured by the Timed Up and Go (TUG) test	24 weeks
Secondary	30-Second Lift Test	Change from baseline in functional muscle testing as measured by 30-Second Lift test	24 weeks
Secondary	EuroQol-5D-5L	Change from baseline in health status using the EuroQol-5D-5L Questionnaire	24 weeks
Secondary	Swallowing Quality of Life	Change from baseline in quality of life using modified Swallowing Quality of Life Questionnaire	24 weeks
Secondary	Sydney Swallow Questionnaire	Change from baseline in quality of life using Sydney Swallow Questionnaire	24 weeks