Impacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study

Sitaporn Youngkong,1,2 Montarat Thavorncharoensap,1,2 Usa Chaikledkaew,1,2 Chaisiri Luangsinsiri,3 Thipwimol Tim-Aroon,4 Chulaluck Kuptanon,5,6 Achara Sathienkijkanchai,7 Kitiwan Rojnueangnit,8 Khunton Wichajarn,9 Boonchai Boonyawat,10 Kanya Suphapeetiporn,11 Duangrurdee Wattanasirichaigoon4 1Department of Pharmacy, Faculty of Pharmacy, Mahidol University, Bangkok, Thailand; 2Mahidol University Health Technology Assessment Graduate Program, Mahidol University, Bangkok, Thailand; 3Department of Clinical Pharmacy, Faculty of Pharmacy, Srinakharinwirot University, Nakhon Nayok, Thailand; 4Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; 5Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand; 6Department of Pediatrics, College of Medicine, Rangsit University, Bangkok, Thailand; 7Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; 8Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand; 9Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand; 10Department of Pediatrics, Phramongkutklao College of Medicine, Bangkok, Thailand; 11Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, ThailandCorrespondence: Montarat Thavorncharoensap, Department of Pharmacy, Faculty of Pharmacy, Mahidol University, 447 Sri-Ayudhaya Road, Rajathewi, Bangkok, 10700, Thailand, Tel/Fax +66-026448694, Email [email protected]: This study aimed to explore the impacts and economic burden experienced by patients and families affected by Pompe disease in Thailand.Patients and Methods: A mixed-methods analysis was employed. To estimate the direct medical cost, databases and/or medical records of the seven rare disease (RD) centers in Thailand from 2010 to 2021 were reviewed. Structured interviews were also conducted to examine direct non-medical and indirect costs. The economic burden was presented in 2024 US dollars (USD) value (1 USD = 35.29 THB). In-depth interviews were conducted with four patients and two caregivers to explore the impacts of this disease.Results: Frequently reported symptoms included fatigue, muscle weakness, and difficulty breathing during sleep. These symptoms had significant and profound impacts on patients’ functioning, family and social roles, self-esteem, emotion, and financial status. Frequent visits to the RD centers, along with the referral process, were reported as a substantial burden to the patients and families. The mean annual direct medical cost per patient, excluding the cost of enzyme replacement therapy, ranged between 2,505 and 14,042 USD from the provider’s perspective and 1,484 USD from the patient’s perspective. Direct non-medical costs were highly significant, with the annual cost of informal care of 1,878– 1,992 USD per patient. Around 43% of the patients reported requiring informal care. On average, each patient required 2.6 ± 3.5 hours of informal care per day.Conclusion: Our findings revealed substantial impacts of Pompe disease on individuals’ physical, social, emotional, and functional capacities as a result of its symptoms. Coordinated care, where patients can be treated by clinicians at local hospitals who operate in close liaison with specialists from the RD centers, is warranted. Psychosocial, welfare, and transportation supports are clearly justified to alleviate the burden and improve the quality of life of the patients.Keywords: Pompe disease, economic, burden, cost, IOPD, LOPD