Expanded newborn screening (NBS) programs are essential for early detection and treatment. This study highlights the implementation of an expanded NBS program for inborn errors of metabolism (IEMs) and congenital hypothyroidism (CH) in rural Thailand, focusing on Health Regions 7 and 8 as a model for resource-limited settings. Using the KKU-IEM web-based platform, the program streamlined workflows, integrating logistics, real-time sample tracking, and electronic data management. Regular training sessions, continuous feedback, and systematic monitoring improved outcomes. Starting from October 2022, the program covered 98.6% of 123,692 live births, identifying 101 CH cases (1 in 1208 live births) and 20 IEM cases (1 in 6100 live births). The CH incidence was slightly higher than Thailand’s national average, while the IEM incidence was double that found in a previous Bangkok pilot study. Six cases highlighted maternal conditions affecting outcomes. Process improvements reduced the average reporting time from 9.13 days in 2023 to 8.4 days in 2024, with a 19% reduction in Bueng Kan Province. Efficiencies were driven by electronic ordering, real-time tracking, and stakeholder collaboration. This program demonstrates a scalable model for rural settings, emphasizing technology integration, collaboration, and quality control. Future efforts should refine diagnostics, expand disease coverage, and enhance long-term outcomes.

Background and Objectives The Health Intervention and Technology Assessment Program was commissioned to conduct a cost–utility and budget impact analysis of enzyme replacement therapy (ERT) for Gaucher disease types 1 and 3b. The findings from this assessment are to support the decision-making process regarding the potential expansion of ERT coverage within Thailand’s public health system. Methods The analysis compared the current policy, which provides treatment with imiglucerase only for patients with Gaucher disease type 1, as listed in the National List of Essential Medicine, with a proposed policy that extends coverage to include Gaucher disease types 1 and 3b with either imiglucerase or velaglucerase. Cost–utility analysis of these policy options was performed using decision tree and Markov models over a lifetime horizon from a societal perspective. The financial implications for the relevant budgetary authority over 5 years were estimated. The research methodology adheres rigorously to Thailand’s health technology assessment guidelines. Results The study found that the incremental cost-effectiveness ratios for treating both Gaucher disease types 1 and 3b are 6,769,000 and 9,359,000 baht per quality-adjusted life year (QALY) for imiglucerase and velaglucerase, respectively, which is well beyond Thailand’s cost-effectiveness threshold of 160,000 baht per QALY. Such an expansion would incur an additional budgetary burden of approximately 81 million baht for imiglucerase and 138 million baht for velaglucerase. Increasing the rate of hematopoietic stem cell transplantation (HSCT) can improve the cost-effectiveness of the expansion. Conclusions The study concludes that expanding ERT with either imiglucerase or velaglucerase to treat both Gaucher disease types 1 and 3b is not cost-effective at current prices in Thailand; however, it could become cost-effective with a reduction of approximately 60% in drug prices or if all eligible patients undergo HSCT.

Expanded newborn screening (NBS) programs are essential for early detection and treatment. This study highlights the implementation of an expanded NBS program for inborn errors of metabolism (IEMs) and congenital hypothyroidism (CH) in rural Thailand, focusing on Health Regions 7 and 8 as a model for resource-limited settings. Using the KKU-IEM web-based platform, the program streamlined workflows, integrated logistics, real-time sample tracking, and electronic data management. Regular training sessions, continuous feedback, and systematic monitoring improved outcomes. From October 2022, the program covered 98.6% of 123,692 live births, identifying 101 CH cases (1 in 1,208 live births) and 20 IEM cases (1 in 6,100 live births). CH incidence was slightly higher than Thailand’s national average, while IEM incidence was double that of a Bangkok pilot study. Six cases highlighted maternal conditions affecting outcomes. Process improvements reduced average reporting time from 9.13 days in 2023 to 8.4 days in 2024, with a 19% reduction in Bueng Kan province. Efficiencies were driven by electronic ordering, real-time tracking, and stakeholder collaboration. This program demonstrates a scalable model for rural settings, emphasizing technology integration, collaboration, and quality control. Future efforts should refine diagnostics, expand disease coverage, and enhance long-term outcomes.

Purpose: 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.

Objective: The study aimed to determine the distribution of congenital heart diseases (CHDs), associated congenital malformations, and syndromes among children with orofacial clefts (OFCs) at Tawanchai Cleft Center, Khon Kaen, Thailand from 2011 to 2020. Methods: The retrospective study reviewed medical records of 1187 children with OFCs at a tertiary cleft center from 2011 to 2020. A total of 95 eligible cases met the following inclusion criteria: diagnosis of cleft palate (CP), cleft lip (CL), or cleft lip and palate (CLP); age from birth to 3 years; confirmed CHD diagnosis by a cardiologist; confirmed diagnosis of congenital malformations or syndromes by a geneticist; and complete medical records. Distributions were described using frequencies and percentages. Fisher’s exact test and binary logistic regression (unadjusted and sex-adjusted) were used for inferential analysis. Results: Among 95 patients, CP was the most frequent OFC type (48.4%), followed by CLP (44.2%) and CL (7.4%). The sex distribution was 48.4% male and 51.6% female, and all patients were of Thai ethnicity. The observed proportion of CHDs (8.0%) fell in the mid-range of prior studies. The most common CHDs were atrial septal defect (ASD, 25.3%), patent ductus arteriosus (PDA, 20.0%), and ventricular septal defect (VSD, 18.9%). Pierre Robin sequence (PRS) was the most common associated congenital malformation (10.4%). Syndromic clefts occurred in 38 cases (40.0%), predominantly involving 22q11.2 deletion syndrome (18.4%), vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities association (13.1%), and Down syndrome (7.9%). Binary logistic regression revealed significantly lower odds of VSD in patients with unilateral CLP compared to those with CL (sex-adjusted odds ratio = 0.07, 95% confidence interval = 0.01–0.61, p = 0.02). Conclusion: ASD, PDA, and VSD are the most common CHDs among patients with OFCs. These CHDs frequently co-occur with PRS and 22q11.2 deletion syndrome. These findings underscore the importance of comprehensive cardiac screening in children with OFCs to support interdisciplinary cleft care management.