Holistic approach may better manage LOPD symptoms: Study
Progressing disease leads to loss of quality of life, increased burden for patients
Many adults with late-onset Pompe disease (LOPD) see their own health status as declining over time, with difficulty swallowing and speaking, and scoliosis (sideways curvature of the spine) being burdensome symptoms for those on enzyme replacement treatment (ERT) for more than 15 years, a survey study has found.
However, ERT led to health improvements among participants reporting stable or improving disease.
“Progressing LOPD leads to loss of [quality of life] in ways that relate to time, use of aids, evolving [symptoms], and the patient’s own perspective,” researchers wrote. “A holistic approach to assessing the individual can help ensure relevant factors are investigated and held in balance, supporting optimized care.”
The study, “Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands,” was published in JHEOR.
The study was funded by Amicus Therapeutics, which developed and markets Pombiliti + Opfolda (cipaglucosidase alfa/miglustat), an approved treatment for adults with LOPD who are not improving on their current ERT. Several of the study researchers also work at the company.
Pompe disease is caused by a deficiency of an enzyme needed to break down glycogen, a complex sugar molecule. Without enough of that enzyme, glycogen builds up in muscles, causing muscle weakness. In the late-onset type of the disease, symptoms begin to appear after the first year of life.
People with LOPD report lower quality of life
People with LOPD report lower quality of life than the general population. Now, a team of researchers looked at how the way patients see their health status (improving, stable, or declining) relates to their quality of life. The researchers also explored daily challenges of patients to better understand their experiences.
The study included 41 adults with LOPD from Australia, France, Italy, and the Netherlands, who filled in the 36-item short form (SF-36) online in the last three months of 2023. They also filled a survey developed by researchers with extensive experience in LOPD and was reviewed by both Pompe community members and patient advocacy organizations in participating countries, to ensure appropriateness and relevance.
In the SF-36 survey, none of the patients reported excellent health, 22% rated their health as poor, 27% as fair, 39% as good, and 12% as very good. When asked about LOPD, more than half (56%) reported its status as declining, 34% as stable, and 10% as improving.
Patients who reported declining health status often linked it to worsening symptoms like pain, fatigue, and difficulty with daily activities. Many noted these changes. “I’ve been noticing some worsening for a few months. I get more tired, I have some pain that I didn’t have before, I lost weight due to lack of appetite,” one patient wrote.
Some participants also reflected on the long-term use of ERT, which provides the body with the enzyme it is lacking. “After 21 years, the effect of ERT is nil. The progression of the disease is in full swing again,” according to one patient.
For patients who reported stable or improving disease, ERT appeared to have benefits. “Before ERT, I would get cramping in my arms and my legs… After a year on ERT, they happen less, if at all,” one patient wrote. Sometimes, patients acknowledged ongoing decline.
Nearly half (46%) of patients were able to go about their lives independently, while 54% needed a caregiver who helped with tasks like cleaning, cooking, and childcare. Patients reported LOPD as having a high impact on the daily lives of their caregivers, averaging 7.3 out of 9 points.
Patients reporting stable or improving health often expect worsening over time
Patients who reported declining health had lower (worse) physical functioning scores compared with those who said their LOPD was stable or improving. However, even those who felt stable or improving often expected their health to get worse over time.
“Therefore, while current treatment is slowing disease progression and allowing temporary improvements in people’s daily lives, patients are still living with the assumption of their worsening condition, indicating a need for improved treatment options and wider support,” the investigators wrote.
Those who had been on ERT for 1-15 years had stable physical functioning scores. However, those on ERT for more than 15 years had lower physical functioning scores, possibly because the disease had progressed or ERT became less effective.
Most patients experienced muscle weakness, fatigue, pain, and movement and breathing difficulties. Symptoms such as trouble swallowing, speaking, and scoliosis were among the most concerning or burdensome only among those on ERT for 15-25 years. These symptoms made daily life harder. The use of mobility or breathing aids was linked to further declines in physical functioning.
“People with LOPD experience substantial limitations that place a significant burden on their day-to-day lives,” the researchers wrote. “A holistic approach is necessary, one that considers individual symptomology, perspectives, and daily life impacts.”
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