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  1. Cost-Effectiveness Analysis of Idursulfase for the Long-Term Treatment of Hunter Syndrome Using a Partitioned-Survival Model Approach in R
    Mustaffa KH, Shafie AA, Ngu LH, Mohd-Rawi R
    Value Health Reg Issues, 2025 Feb 19;46:101089.
    PMID: 39978289 DOI: 10.1016/j.vhri.2025.101089
    OBJECTIVES: Hunter syndrome is among the costliest life-long genetic conditions associated with a substantial burden-of-illness and a significant impact on the health systems, families, and society. We estimated the cost-effectiveness of long-term enzyme replacement therapy with idursulfase versus the standard of care from a societal perspective using a streamlined modeling strategy in R.

    METHODS: A de novo 4-state partitioned survival model was developed to compare lifetime cost and outcomes of 2 care models operationalized in R. The disease progression was based on independent survival modeling of relevant Kaplan-Meier data. The healthcare and out-of-pocket costs were drawn from the local setting. The quality of life was measured using the EQ5D5L and the time trade-off valuation of health-state vignettes that match the states in the model. Probabilistic and deterministic sensitivity analyses were conducted to test the uncertainty around the model results.

    RESULTS: The lifetime incremental quality-adjusted life years were 4.1 years (95% CI, 2.37-5.68). Incremental costs were estimated to be $9.5 million (95% CI, 9.0 million-10.0 million), which primarily consists of drug costs (99%). The incremental costs per quality-adjusted life year were estimated to be approximately $2.4 million (95% CI, 1.7 million-3.8 million). Sensitivity analyses showed that the key drivers of incremental cost-effectiveness ratio were quality of life in the preprogression state and differential discounting approach, besides the acquisition cost of enzyme replacement therapy of idursulfase.

    CONCLUSIONS: The incremental cost-effectiveness ratios were beyond any conventionally used cost-effectiveness threshold in all cases. At the current price, there is a significant discrepancy between the therapy's funding decision and the cost-effectiveness assessment as a basis for guiding healthcare prioritization in Malaysia.

  2. Fulltext Dihydropyrimidine dehydrogenase deficiency in two malaysian siblings with abnormal MRI findings
    Chen BC, Mohd Rawi R, Meinsma R, Meijer J, Hennekam RC, van Kuilenburg AB
    Mol Syndromol, 2014 Dec;5(6):299-303.
    PMID: 25565930 DOI: 10.1159/000366074
    Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine metabolism. Deficiency of this enzyme leads to an accumulation of thymine and uracil and a deficiency of metabolites distal to the catabolic enzyme. The disorder presents with a wide clinical spectrum, ranging from asymptomatic to severe neurological manifestations, including intellectual disability, seizures, microcephaly, autistic behavior, and eye abnormalities. Here, we report on an 11-year-old Malaysian girl and her 6-year-old brother with DPD deficiency who presented with intellectual disability, microcephaly, and hypotonia. Brain MRI scans showed generalized cerebral and cerebellar atrophy and callosal body dysgenesis in the boy. Urine analysis showed strongly elevated levels of uracil in the girl and boy (571 and 578 mmol/mol creatinine, respectively) and thymine (425 and 427 mmol/mol creatinine, respectively). Sequence analysis of the DPYD gene showed that both siblings were homozygous for the mutation c.1651G>A (pAla551Thr).
  3. Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia
    Mohseni J, Boon Hock C, Abdul Razak C, Othman SN, Hayati F, Peitee WO, et al.
    Gene, 2014 Jan 1;533(1):240-5.
    PMID: 24103480 DOI: 10.1016/j.gene.2013.09.081
    Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene. Until now, some mutations were reported worldwide and none of them were of Southeast Asian origins. Furthermore, most reported mutations were point mutations and a few others deletions or insertions.
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