What side effects are associated with this type of intervention?

Common treatments for Oculopharyngeal Muscular Dystrophy (OPMD) include gene therapy, surgical interventions, and supportive therapies. Gene therapy, such as the BB-301 trial, aims to target muscle cells to improve function and reduce dysphagia symptoms. Known side effects of gene therapy can include immune reactions, inflammation, and potential off-target effects. Surgical treatments, like cricopharyngeal myotomy, can lead to complications such as infection, bleeding, and aspiration. Supportive therapies, including dietary modifications and speech therapy, generally have minimal side effects but may not fully address the underlying muscle weakness.

What prior FDA approvals exist?

As of now, there are no specific FDA-approved gene therapies for the treatment of Oculopharyngeal Muscular Dystrophy (OPMD) similar to BB-301. BB-301 is an investigational gene therapy designed to target muscle cells to improve function and reduce symptoms of dysphagia in OPMD patients. Current treatments for OPMD primarily focus on managing symptoms, such as dysphagia, through supportive care, physical therapy, and surgical interventions. The development of gene therapies like BB-301 represents a promising area of research aimed at addressing the underlying genetic causes of OPMD.

What other types of research exist?

Promising alternatives to BB-301 for OPMD patients include: 1) Antisense oligonucleotide therapies, which have shown potential in other neuromuscular diseases like ALS and Huntington's disease. 2) Pharmacologic agents such as anticholinergic medications (e.g., glycopyrrolate) and botulinum toxin (BoNT) injections, which are used to manage symptoms like drooling and may help with dysphagia. 3) Emerging gene editing technologies, such as CRISPR/Cas9, which could potentially target and correct genetic mutations in muscle cells. Patients should discuss these options with their healthcare provider to determine the best course of action.

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Genetic Therapy

BB-301 for Muscular Dystrophy

Phase 1 & 2

Recruiting

Led By Milan R. Amin, M.D.

Research Sponsored by Benitec Biopharma, Inc.

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Males or females, aged ≥50 to ≤65 years at the time of NH study enrollment, with genetically diagnosed heterozygous OPMD disease or aged ≤65 years at the time of NH study enrollment, with genetically diagnosed homozygous OPMD disease.

Subject has moderate dysphagia, defined as specific pharyngeal area measurements with natural sips of thin liquid barium or teaspoon delivery of moderately thick liquid barium.

Must not have

Subject has had cricopharyngeal dilation within the 12 months prior to Screening.

Subject has received gene therapy within the 6 months prior to Screening.

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline, day 90, day 180, day 270, day 360

Awards & highlights

No Placebo-Only Group

Summary

This trial involves injecting BB-301 into the throat muscles of patients with OPMD to help them swallow better. The study focuses on patients who have already been monitored for a period of time. The goal is to see if the treatment is safe and effective.

Who is the study for?

This trial is for individuals with Oculopharyngeal Muscular Dystrophy (OPMD) who have trouble swallowing (dysphagia) and have been part of a previous OPMD study for at least 6 months. Participants will undergo surgery under general anesthesia to receive the treatment.

What is being tested?

The trial tests different doses of BB-301, an investigational drug, injected into throat muscles during surgery. The goal is to find the safest and most effective dose to improve swallowing in OPMD patients.

What are the potential side effects?

Potential side effects may include reactions related to the surgical procedure, such as pain or infection at the injection site, complications from anesthesia, and any unforeseen effects of BB-301.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I am between 50 and 65 years old with a genetic diagnosis of OPMD.

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I have moderate difficulty swallowing.

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I am willing and able to have surgery in my throat area under general anesthesia for the study drug.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I have had a throat stretching procedure in the last year.

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I have undergone gene therapy in the last 6 months.

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I was hospitalized for pneumonia related to my swallowing problems in the last year.

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I have a condition that makes swallowing difficult.

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I have been diagnosed with head and neck cancer.

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I have had radiation treatment to my neck.

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I have had major surgery on my mouth or neck.

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I have been treated with a gene therapy using AAV before.

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I have had surgery or Botox injections for swallowing difficulties.

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I do not have any serious illnesses that could shorten my life, except for treated skin cancer or cervical carcinoma in situ.

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I have a weakened immune system or am on medication that lowers my immunity.

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My liver isn't working properly.

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I have severe high blood pressure.

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I am experiencing significant weight loss and muscle wasting.

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I am able to understand and follow the study's requirements.

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I am willing and able to follow the study's procedures and attend all scheduled visits.

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I haven't used any experimental drugs or devices in the last 3 months.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline, day 90, day 180, day 270, day 360

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline, day 90, day 180, day 270, day 360

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline, day 90, day 180, day 270, day 360 for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Primary study objectives

Incidence of adverse events (AEs) according to NCI CTCAE v5.0 in phase 1b and in phase 2a

Incidence of dose-limiting toxicities (DLTs) in phase 1b

Phase 1b: Pharyngeal constrictor muscle function as estimated by the pharyngeal area at maximum constriction (PhAMPC)

+9 more

Secondary study objectives

Phase 1b: Dysphagia severity as measured by the cold water timed drinking test (CWDT)

Phase 1b: Global swallowing function as measured by the Dynamic Imaging Grade of Swallowing Toxicity (DIGEST) scale

Phase 1b: Maximum pharyngeal dilation as estimated by %(C2-4)^2-normalized post-swallow hyoid rest pharyngeal area (HRAN)

+15 more

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: BB-301 TreatmentExperimental Treatment4 Interventions

The phase 1b component of the study is the dose escalation phase which will enroll up to 18 subjects in up to 3 dosing cohorts. The phase 2a component of the study is the dose expansion phase which will enroll up to 12 subjects.

0 / 20Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Gene therapy, such as the BB-301 treatment being studied, works by delivering genetic material directly into muscle cells to correct or compensate for the defective genes causing Oculopharyngeal Muscular Dystrophy (OPMD). This approach aims to restore normal function to the affected muscles, particularly those involved in swallowing, thereby reducing symptoms of dysphagia. For OPMD patients, this is crucial as it directly addresses the underlying genetic cause of muscle weakness and degeneration, potentially improving their quality of life and ability to perform essential functions like eating and speaking.