Treatment Options for Patients with MPSII (Hunter Syndrome) and MPS III (Sanfilippo Syndrome): How Do Families Make the Choice? By Amanda Padro
Introduction: Despite a lack of evidence supporting the effectiveness of hematopoeitic stem cell transplantations (HSCTs) in patients with MPS II or MPS III, great variability in symptom penetrance amongst affected individuals, varying prognoses on a case by case basis, higher life expectancies in some patients, and high morbidity and mortality rates inherent in HSCT procedures, families choose to pursue HSCT as a treatment option. The prevalence of HSCTs being performed on patients with MPS II or MPS III is unknown due to lack of data and the rarity of the disorder. With the recent addition of ERT as a viable option for patients with MPS II, the questions addressed in this study included: Is the patient population informed about these possible therapies?, Which therapies, if any, are they pursuing?, and How are they making these decisions? Methods: A non-validated survey developed specifically for this study was sent to families making decisions regarding MPS II and MPS III through the National MPS Society. Quantitative and qualitative descriptive analysis was utilized to highlight patterns in how informed these families are regarding HSCT and ERT (for MPS II), and how these families are making decisions regarding treatment options. Results: 66.7% of respondents to the MPS II survey and 53.8% of respondents to the MPS III survey reported knowledge of HSCT as a treatment option for these conditions. 11.1% and 5.8% of these MPS II and MPS III survey respondents reported choosing HSCT, respectively. 100% of MPS II survey respondents reported knowledge of ERT, and 69.4% chose ERT as a treatment option for the condition. Factors important to decisions regarding treatment options included risks, procedure logistics, candidacy, potential benefits, and presence or absence of medical evidence of efficacy. Conclusion: More families coping with MPS II were aware of HSCT as a treatment option, but more families coping with MPS III actually considered the option as a treatment for their child. While majority of respondents from both populations do not choose to pursue HSCT, a small subset of these families report the perception that this is the only option available to them, and they feel that they must try something to prolong or improve their child’s life. A majority of MPS II survey respondents reported pursuing ERT as a treatment option for their child.