Treatment of Oculopharyngeal Muscular Dystrophy With Trehalose

NCT04226924 | Withdrawn Phase 2 DMC

• 1 other identifier: BB-OPMD-202
• Study Type: interventional
• Target: N/A
• Locations: 1 country
• Sites: 3

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.

Conditions

Oculopharyngeal Muscular Dystrophy

Keywords

OPMD; DMOP; Dysphagia

Outcome Measures

Primary Outcomes (1)

• Drinking Test Time

  Change from baseline in timed drinking tests with 80 cc of ice-cold water and nectar.

  24 weeks

Secondary Outcomes (7)

• Muscle Strength Testing

  24 weeks

• Stair Climb Test

  24 weeks

• Timed Up and Go Test

  24 weeks

• 30-Second Lift Test

  24 weeks

• EuroQol-5D-5L

  24 weeks

Study Arms (2)

Trehalose

EXPERIMENTAL

Trehalose 9% solution: The dose is 0.75 g/kg administered IV over 60 ± 5 minutes once weekly.

Drug: Trehalose

0.9% Normal Saline

PLACEBO COMPARATOR

Normal saline: weight-based volume administered IV over 60 ± 5 minutes once weekly.

Drug: Trehalose

Interventions

Trehalose DRUG

90 mg/ml trehalose solution for IV infusion

0.9% Normal Saline; Trehalose

Eligibility Criteria

• Age: 50 Years - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Bioblast Pharma Ltd.: lead

Study Sites (3)

Ecogene-21

Chicoutimi, Quebec, G7H 7K9, Canada

Location

Montreal Neurological Institute and Hospital

Montreal, Quebec, H3A 2B4, Canada

Location

CHU de Québec-Université Laval- Hôpital Enfant-Jésus

Québec, Quebec, G1J 1Z4, Canada

Location

MeSH Terms

Conditions

Muscular Dystrophy, Oculopharyngeal; Deglutition Disorders

Interventions

Trehalose

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Esophageal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Pharyngeal Diseases; Otorhinolaryngologic Diseases

Intervention Hierarchy (Ancestors)

Glucans; Polysaccharides; Carbohydrates; Disaccharides; Oligosaccharides; Sugars

Study Officials

• Bernard Brais, MD

  McGill University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: RANDOMIZED
• Masking: QUADRUPLE
• Who Masked: PARTICIPANT, CARE PROVIDER, INVESTIGATOR, OUTCOMES ASSESSOR
• Masking Details: The Treatment Period of the study is double-blind. The Extension Period is open label.
• Purpose: TREATMENT
• Intervention Model: CROSSOVER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Model Details: 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.

Study Record Dates

• First Submitted: July 15, 2019
• First Posted: January 13, 2020
• Study Start: June 15, 2017
• Primary Completion: February 15, 2018
• Study Completion: August 15, 2018
• Last Updated: January 13, 2020

Record last verified: 2020-01

Data Sharing

• IPD Sharing: Will not share

Locations

CA (3)