Congress highlights

The 27th International Annual Congress of the World Muscle Society (WMS) has kicked off in Halifax, Canada, and runs through October 15th. Having been curtailed to the virtual world for the last two years as a result of the COVID-19 pandemic, this is the society’s first hybrid annual meeting. Attendees have welcomed the return of the in-person event.

The five-day programme is packed with oral sessions and abstract presentations on a range of conditions including congenital myopathies, Duchenne muscular dystrophy, spinal muscular atrophy and Pompe disease.

Figure 1. Pompe disease is inherited in an autosomal recessive pattern.  

Continue to learn more about such topics as: Is home-based enzyme replacement therapy safe?, various treatment options for late-onset Pompe disease, a new investigational treatment that’s on its way.

Patient factors and characteristics

By Dawn O’Shea

Patient-reported unmet care needs in Pompe disease

People with rare neuromuscular diseases often face a distressing and lengthy path to diagnosis, sometimes dotted with misdiagnoses. This delay in diagnosis and treatment initiation adds significantly to the disease burden.

Figure 1. Pompe disease is a rare congenital disorder of the neuromuscular system in which there is progressive muscle weakness.

UK data, presented at the 2022 International Annual Congress of the World Muscle Society, show that people with Pompe disease wait almost 10 years for a confirmed diagnosis, and a significant proportion receive at least one misdiagnosis along the way⁶. Val Buxton, Chief Executive of the Association for Glycogen Storage Disease UK, presented the findings of an in-depth online quantitative survey of 37 people in the UK living with late-onset Pompe disease (LOPD).

The data showed that the average time between symptom onset and diagnosis was 9.3 years, with an additional two-year wait until treatment initiation with enzyme replacement therapy (ERT).

Forty-six per cent of these patients had received at least one misdiagnosis

More than 90 per cent of participants reported walking difficulties, fatigue and muscle weakness. Almost 85 per cent reported balance issues.

Twenty-six participants were receiving ERT, with half having been on ERT for more than 10 years. Approximately 77 per cent felt their condition had deteriorated since starting therapy.

The survey also asked participants to identify unmet needs. Physiotherapy was top of the list, cited by 73 per cent of respondents as a supporting therapy that would help manage the condition. Interestingly, almost half cited counselling as a top unmet need, which highlights the emotional and psychological burden of Pompe disease.

The emotional journey of people with Pompe disease

Login or register for more highlights from WMS 2022. Discover new data on patient-reported unmet needs, learn about the development of an archetypal emotional journey figure, and find out about data uncovered on JOPD and LOPD from the Spanish Pompe Registry.

The Big Debate

By Dawn O’Shea

Nicol Voermans from The Netherlands debated Jim Dowling from Canada on whether biomarkers should replace outcome measures in neuromuscular disease clinical trials

One of the highlights of the 27th International Annual Congress of the World Muscle Society was the big debate – should biomarkers replace outcome measures in clinical trials¹⁰? This engaging debate featured Nicol Voermans from Radbound University Medical Center in The Netherlands versus Jim Dowling from the Hospital for Sick Children in Toronto and a member of the congress organising committee.

Before the participants took to the stage, a pre-debate poll showed that 65% of the attendees were against the motion that biomarkers should replace outcome measures.

Voermans was first to take to the podium. “If biomarkers are the answer, which is the question?” she asked. “You can answer the question, does it work? Can it be used safely? How does it work? But not whether or not it helps the patient, which is what it’s all about.”

The best of the late breaking abstracts

By Dawn O’Shea

Three late breaking abstracts made it onto this year’s programme, including new data from the ongoing phase 3 COMET trial, which is examining the efficacy and safety of intravenous avalglucosidase alfa and alglucosidase alfa for treatment-naïve patients with late onset Pompe disease

Results have previously been published from the 49-week primary analysis period, which showed greater improvements in forced vital capacity (FVC), 6-minute walk test (6MWT), and other outcomes with avalglucosidase alfa compared with alglucosidase alfa.

At the congress, Benedikt Schoser presented findings from the 145-week open-label extended treatment period of the trial, which show that these improvements were maintained through 145 weeks of treatment¹¹.

In the primary analysis period, treatment-naïve participants with late onset Pompe disease (LOPD), aged three years or older were randomised (1:1) to receive avalglucosidase alfa at a dose of 20 mg/kg body weight every other week (qow) or alglucosidase alfa 20 mg/kg qow.

Continue to learn more about such topics as: Is home-based enzyme replacement therapy safe?, various treatment options for late-onset Pompe disease, a new investigational treatment that’s on its way