Abstract
The objective of this study was to develop the benefit package for diagnosis, treatment/rehabilitation, and prevention for pompe patients under universal coverage scheme based on service provision situation of the providers, services utilization by the patients, evidences on effectiveness/safety of Enzyme Replacement Therapy (ERT), clinical practice guideline, benefit package in other countries, and budget impact analysis. This study employed mixed method research design, which included both quantitative approach and qualitative approach, which were rapid review, analysis of secondary database, and medical record review at 7 rare disease centers, budget impact analysis, In- depth interview, and focus group discussion among stakeholders. According to the medical record review from the 7 rare disease centers, at present (year 2564) there are 2 Infantile-onset pompe disease (IOPD) patients and 4 late-onset pompe disease (LOPD) patients in Thailand. Proposed benefit package after stakeholder meetings include the followings; 1) Benefits for diagnosis: The following benefits were proposed: a. Diagnosis with enzyme activity assay and molecular testing b. Carrier-testing for at-risk family members c. Prenatal diagnosis (in case that the couple desire to have another child) The 5-year budget impact for diagnosis with enzyme activity assay was estimated at 153,333 Baht while those of molecular testing, carrier testing for at-risk family members, and pre-natal diagnosis were 105,000 Baht, 70,000 Baht, and 17,500 Baht. At present, enzyme activity assay can be performed at Chulabhorn research institute and Ramathibodi hospital while molecular testing can be performed at Chulabhorn Research Institute and several rare disease centers. 2) Benfit for specific treatment: We proposed ERT treatment with alglucosidase alfa for pompe patients and also propose to have the expert committee to closely monitor the use of ERT by adopting the starting and stopping criteria for ERT treatment as proposed by national expert working group on National List of Essential Medicine for rare disease 2565. This was based on the review of evidences, which found that ERT can dramatically alter natural history of IOPD in that ERT can reduce the risk of mortality by 87% to 99%. For LOPD, evidences also indicated that ERT can significantly reduce the risk of death as well. Based on the systematic review among LOPD patients, ERT can significantly increase 6 minute-walk test (6MWT) and improve/stabilize respiratory function. With respect to safety, ERT is relatively safe. Frequent adverse event was mild to moderate infusion associated reaction which could be prevent or manageable. Treatment with ERT was also recommended in several clinical practice guideline. In addition, treatment with ERT is currently covered by national health insurance program in England, Canada, Australia, Taiwan, and Switzerland. Budget impact if ERT is included in the benefit package for IOPD patients is estimated at 8.3, 1 2 .5, 16.7, 2 0. 9, and 25. 0 million baht for year 1 to 5, respectively. For LOPD, the budget impact for ERT was estimated at 70.1, 70.1, 87.6, 87.6, and 105.2 million baht for year 1 to 5, respectively. 3) Benefit related to treatment system. We proposed that affected patients can receive treatment and monitoring at rare disease centers without the need for referral for every visit. We also proposed for the development of co-ordinate care so that patients can receive routine and continuous care at the local hospitals. The reasons were that patients with Pompe disease require continuous care while the number of geneticists were limited and mostly were available at rare disease centers. According to the interviews, patients were facing with difficulty in transporting to get treatment. This led to the high direct nonmedical cost. 4) Benefit for supportive treatment. We proposed continuous Positive Airway Pressure (CPAP) or Bilevel Positive Airway Pressure (BiPAP) for patients with Pompe who are in medical need. According to the clinical practice guideline, pompe patients are at risk of severe respiratory insufficiency and these patients will get benefit from CPAP and BiPAP. This was also consistent with our interview, which found that patients were in need for CPAP/BiPAP. However, both CPAP/BiPAP are not currently included in the benefit package. The estimated budget for inclusion of CPAP for pompe patients was approximately 200,000 Baht for 5 years (estimate budget for inclusion of BiPAP was around 500,000 Baht for 5 years).
