LOPD Adults in China Cite Poor Quality of Life

Adults with late-onset Pompe disease (LOPD) report worse physical health and quality of life than their counterparts with other rare diseases, a national survey in China has found.

In the study, however, stronger social support — in the form of social interaction — was linked to better quality of life (QOL).

“Encouraging adult Chinese patients with LOPD to be socially active and help them become more involved in social life might improve their QOL,” the researchers wrote.

The study, “Quality of life and its contributors among adults with late-onset Pompe disease in China,” was published in the Orphanet Journal of Rare Diseases.

Prior studies have shown that having LOPD appears to be linked to poor QOL related to physical health, but data from other areas, or domains, are less clear.

Here, researchers in China used an online survey to collect data from patients with LOPD on the various domains of QOL.

Notably, the average annual cost of enzyme replacement therapy (ERT) for an adult with

Pompe in China is more than four times a family’s average annual household income, the scientists said. Together with the low insurance coverage rate for ERT, this exposes Chinese patients to the consequences of Pompe disease. In fact, among the 61 patients registered to a national Pompe patient organization, none of the only 12 who had been treated with ERT has used it in the dose approved by the country’s regulatory agency.

The survey, which was made known via online and offline social networks, took place from Jan. 1 to Feb. 15, 2018. Patients and caregivers were given either of two versions of the survey; both covered the same topics, but the questions were phrased differently to produce more accurate answers.

A total of 2,007 people responded to the survey. Of those, 78 had LOPD and 14 had infantile-onset Pompe disease. Sixty-eight patients with LOPD were adults and 10 were children.

Since children depended on their parents to answer the questions, the researchers decided to focus on the 68 adults for more reliable data. Their mean age was 30 and about 20% had a job. Seven (10%) had used Myozyme (alglucosidase alfa) — the only approved ERT for Pompe, sold in the U.S. under the brand name Lumizyme — in the previous year.

Patients with Pompe disease experience muscle weakness as a symptom, and they often require an assistive device such as a wheelchair or a ventilator to support breathing. In the study, half of adults with LOPD relied moderately on assistive devices, and about 40% relied on them heavily.

Compared with the 1,067 adults with other rare diseases, those with LOPD were younger, less likely to have a job, and more likely to rely on assistive devices.

QOL was measured using the World Health Organization Quality of Life: Brief Version, a 26-item questionnaire that covers four domains: physical health, psychological health, environmental health, and social interactions.

On a scale from zero to 100, adults with LOPD scored a mean of approximately 34 points in physical health, 44 in psychological health, 39 in environmental health, and 46 in social relationships. Physical health, but not other QOL domains, was worse in adults with LOPD than in their counterparts with other rare diseases (34 versus 48 points).

Social support is crucial for those living with Pompe disease. In the study, it was measured using the Chinese Mandarin version of the Medical Outcomes Study Social Support Survey.

When asked about the number of close friends and relatives, adults with LOPD replied they had an average of fewer than six people with whom they could talk and feel at ease. Adults with LOPD reported greater tangible support (such as financial assistance, material goods, or services), but not of other forms of support, than adults with other rare diseases.

Next, the researchers looked at factors that may affect QOL. They found that increased age contributed to a decrease in physical and environmental health, while the use of assistive devices was linked to a decrease in all domains of QOL. Meanwhile, a one-unit increase in the amount of social support, as a form of social interaction, led to an improvement in each of the domains of QOL.

“Social interactions … were found to play an important role in QOL in patients with LOPD in almost all dimensions,” the scientists wrote, adding that encouraging patients with LOPD to be socially active might improve their QOL.

“How to provide adult patients with LOPD equal or even more opportunities to be socially engaged is something that healthcare providers and policymakers need to consider,” the researchers added.

As for the study’s limitations, they mentioned its small sample size and the need to collect more data from children in future studies.