Switch to Nexviazyme shows real-world benefits for teen with LOPD
Report highlights gains in muscle strength, eased airway issues after 2 years
Switching from Lumizyme (alglucosidase alfa) to the newer treatment Nexviazyme (avalglucosidase alfa) improved muscle strength and eased airway issues in a young man with late-onset Pompe disease (LOPD).
That’s according to a new case report from researchers in Taiwan that detailed the benefits seen with the switch between approved Pompe disease treatments in an LOPD patient outside of clinical trials.
Initially, the young man had narrowed nasal passages and a blocked throat, as well as weakening and narrowing of the windpipe. After about two years on Nexviazyme, the nasal passages, throat, and windpipe all had widened, and the airways were better preserved, per the report.
“This study provides the first real-world data demonstrating marked improvements in airway abnormalities observed through [flexible bronchoscopy] after switching to [Nexviazyme] for LOPD,” the scientists wrote, noting that the team also saw gains in “functional endurance, core muscle strength, … and disease-specific biomarkers … compared to those achieved with [Lumizyme] treatment.”
The report, “Marked Improvements in Airway Abnormalities and Multifaceted Outcomes After 2 Years Switching to Avalglucosidase Alfa: Evaluation of A 19-Year-Old Male Diagnosed With Late-Onset Pompe Disease,” was published in the American Journal of Medical Genetics.
In Pompe disease, genetic mutations result in an underactive acid alpha-glucosidase enzyme, needed to break down a stored form of sugar called glycogen. Excess glycogen becomes toxic, particularly to muscle cells, which rely on it for energy. As a result, people with Pompe develop muscle weakness that worsens over time.
Patient had been on Lumizyme before switch to Nexviazyme
Enzyme replacement therapies can ease symptoms of Pompe disease by providing the body with the enzyme needed to break down glycogen. Sanofi’s Lumizyme, the first approved enzyme replacement therapy, has shown effectiveness among patients, but its benefits may decrease over time. In addition, studies have reported limited success in addressing respiratory symptoms with Lumizyme, the scientists noted.
Sanofi later introduced Nexviazyme as a newer version that can enter muscle cells more efficiently. It is approved for treating Pompe disease in the U.S. and other countries and regions, including Taiwan and the European Union.
Here, a research team described the case of a 19-year-old man diagnosed with late-onset Pompe disease at age 12. He had been on Lumizyme for more than four years — a medication given every two weeks for the first two months and then weekly. The man had been enrolled in a Sanofi-funded, investigator-initiated clinical study (NCT05017402) before switching to Nexviazyme.
While he was on Lumizyme, doctors used a bronchoscope, essentially a flexible tube with a camera, to look at the man’s airways. They saw narrowing in both nasal passages and a blocked throat. His trachea, or windpipe, was softer than normal and narrowed by more than half in its middle.
After slightly more than two years (26 months) on Nexviazyme, these problems had eased, the researchers noted.
This study highlights the potential benefits of [Nexviazyme] in managing respiratory outcomes in patients with late-onset [Pompe disease], suggesting its promising effects for long-term treatment.
Sleep studies showed that, after about one year on Nexviazyme, the patient’s apnea-hypopnea index also decreased. That means that the number of times he stopped breathing during his sleep had been reduced. His overall sleep efficiency did not change significantly, but his lung function remained stable, the team noted.
The patient had difficulty walking throughout treatment, but he could move independently without mobility aids. On the six-minute walk test of endurance, his distance was slightly shortened after switching to Nexviazyme but then increased back.
At diagnosis, the young man was underweight and short for his age. His weight did not improve significantly on Lumizyme, but after switching to Nexviazyme, he gained weight steadily. In fact, the researchers noted improvements in his body mass index, or BMI, a ratio of weight to height.
Throughout treatment, both medications were well tolerated, with no side effects and no need for invasive breathing support, feeding tubes, or walking aids, according to the team.
“This study highlights the potential benefits of [Nexviazyme] in managing respiratory outcomes in patients with late-onset [Pompe disease], suggesting its promising effects for long-term treatment,” the researchers wrote.
The team concluded that the newer therapy “can potentially improve the prognosis of patients with [Pompe disease],” adding that “more extended follow-up periods and large-scale studies using multifaceted approaches are required.”
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