Most patients with late-onset Pompe disease (LOPD) would like to see a reduction in the length of time needed to reach a diagnosis and start treatment, according to the results of a study presented at the 26th International Annual Congress of the World Muscle Society.
Patients also wish they had access to additional support at the time of diagnosis and recommended educating general practitioners on Pompe disease.
These findings are based on interviews with 27 people with LOPD in the United Kingdom, with a mean age of 56 years. The mean age at diagnosis was 43 years, and the mean time since diagnosis was 13 years. A third (33%) of participants received 1 or more misdiagnoses before reaching a diagnosis of LOPD.
Read more about the diagnosis of Pompe disease
The archetypal emotional journey of patients from initial symptom onset to receiving a diagnosis and living with LOPD was as follows: anxiety when the disease was undetected; anxiety, depression, desperation, and frustration at the time of testing and misdiagnoses; anger, denial, depression, fear, gratitude, guilt, and relief at diagnosis; gratitude and lifted mood when treatment was started; and acceptance and adaptation over time as well as anger, guilt, and loss while living with the disease.
The study also looked at the emotional response of patients to the coronavirus disease 2019 (COVID-19) pandemic, which included anxiety, fear, and loneliness.
The factors that influenced the journey to participants being diagnosed with LOPD included age at noticeable symptom onset and the order in which they emerged, time to diagnosis and early interactions with healthcare professionals, and age and availability of therapy at diagnosis.
The physical symptoms most frequently reported by patients were walking difficulties, fatigue, balance issues, and breathing problems.
Most participants felt that LOPD severely affected their lives, and the majority faced challenges as their condition deteriorated, with impacts on their lifestyle, daily activities, social life and holidays, ability to continue working, dependency on others, and family relationships.
The findings were presented in a poster by Allan Muir, the chair of the board of trustees of the Pompe Support Network UK.
Muir A, Odedra K, Johnson N, et al. Living with late-onset Pompe disease in the UK: interim results characterising the patient journey and burden on physical, emotional and social quality of life. Poster presented at: World Muscle Society (WMS) International Annual Congress 2021; September 20-24, 2021; Virtual.
Amicus Therapeutics announces presentations at the 26th International Annual Congress of the World Muscle Society. News release. Amicus Therapeutics; September 20, 2021.