COVID-19 affected overall health, treatment of Pompe patients: Survey
Interruptions in ERTs, care, and contact weigh on physical and mental well-being
The COVID-19 pandemic affected the treatment, as well as the physical and mental health, of people with Pompe disease, according to a recent survey of patients in 25 countries.
More than 50% of respondents reported interruptions in enzyme replacement therapy (ERT) and physical therapy, affecting their disease, and feelings of loneliness were commonly expressed.
“Results reinforce the need for continued — personalized — care and social engagement, regardless of the severity of the —chronic — disease, during difficult times such as the COVID-19 pandemic,” the researchers wrote.
The study, “The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease,” was published in the Journal of Neurology.
Health questionnaire completed by 342 patients in 25 countries
Pompe disease is caused by mutations in the GAA gene, leading to a deficiency in the enzyme acid alpha-glucosidase. This results in the accumulation of glycogen, a sugar molecule, particularly in muscle cells. Enzyme replacement therapy (ERT) is the mainstay treatment for Pompe disease, administering a working version of the GAA enzyme.
COVID-19 and its related control measures took a toll on public health. Previous studies in patients with Pompe or other neuromuscular disorders also found the pandemic led to more severe disease and a lower quality of life, and challenges in keeping up with treatment regimens.
However, “research assessing the impact of COVID-19 specifically on patients with Pompe disease is limited,” the scientists, mostly with Erasmus MC University Medical Center in the Netherlands, wrote.
Working with the International Pompe Association and a lysosomal and metabolic disease center, they created a patient questionnaire that was completed by 342 people with Pompe in 25 countries, mainly the Netherlands, the U.S., and Germany. It was available online from Sept. 20 until Nov. 7, 2022.
Most respondents were women (56.7%), with patients having a median age of 51 and living with the disease for a median of 22 years. A majority (86.8%) were being treated with ERT at the time of the survey.
Among them, 58.2% reported being severely or very severely affected by the disease, while 28.4% had a mild condition.
Almost half of the patients (155 or 47.6%) reported having been infected by the SARS-CoV-2 virus that causes COVID-19, with most recovering within four weeks. The vast majority (95.3%) received one or more doses of COVID-19 vaccine, and 309 received all recommended doses. Almost 90% took one or more booster doses.
These findings are “in line with the literature reporting a mild disease course of COVID-19 in patients with Pompe disease,” the researchers wrote.
More than 20% respondents linked poorer mobility, respiration to COVID-19
Most patients did not report a worsening in their overall health following a COVID-19 infection. But almost a third of this group noted overall health poorer, with 24.6% experiencing worse mobility and 21.9% more respiratory problems.
At the pandemic’s start, about two-thirds (67.3%) of the patients — especially those severely or very severely affected — were in quarantine, making only essential external contact. More than 70% reported using a face mask and keeping a 1.5-meter distance from other people. By the late 2022 time of the questionnaire, only 9% were still keeping a quarantine, but 45.3% continued to wear masks in public spaces or around company in a home.
About 1 in 6 patients (17.2%) reported interruptions in ERT infusions, particularly in France, where 1 in 2 patients (50%) noted interrupted infusions. A small minority (2.5%) noted delays in beginning treatment. Such delays or interruptions were considered by 28 of 64 affected patients (43.8%) to negatively impact their disease, particularly in terms of mobility and fatigue.
“Interruption of ERT, even as short as a few months (mean 2.2 months), worsens a patient’s motor and respiratory function,” the researchers reported, noting a “significant mean deterioration” of 37 meters (around 120 feet) in the six-minute walk test.
More than half of the patients (56%) reported fewer medical appointments or online consultations due to the pandemic, particularly those in the U.S. (71.4%) and Italy (75%). Most in this group also had reported being severely or very severely affected by Pompe.
Slightly over half (52.6%) had physical therapy paused at least once, with pauses ranging from two weeks to two years. Caregiver visits declined also in 23 of 80 cases, increasing patients’ sense of isolation.
COVID-19 impacted the mental health of a majority of patients in survey
Looking back at the pandemic’s impact, 43.1% of survey respondents reported poorer overall health related to Pompe disease, 42.2% of whom were infected by COVID. Women and severely affected patients were more likely to feel this impact.
A majority (55.4%) also reported a decline in their mental health across the pandemic, noting possible symptoms of anxiety or depression and issues with concentration or sleep. Here, women and people reporting mild disease were most affected.
“A considerable number of patients were reported to have experienced an increased feeling of loneliness and/or social isolation as a result of the pandemic and/or lockdown,” the researchers wrote.
Feeling nervous, restless, or tense were among “common complaints,” and talking to family or friends was a widely used “coping mechanism.”
Overall, the survey “highlighted that COVID-19 infection(s), the pandemic and its associated control measures resulted in both a — variable but considerable — physical and mental impact on patients with Pompe disease,” the researchers wrote.
While a risk of infection was a primary concern, “control measures taken during the pandemic additionally caused interruptions in medical care, physiotherapy and caregiver help in many patients,” they added.
Besides reinforcing the need to maintain care in such emergencies, survey findings “are important to be taken into account in pandemic preparedness protocols to minimize the impact,” they concluded.
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