Wiesinger Anna-Maria, Lagler Florian B
Institute for Inherited Metabolic Disorders, Paracelsus Medical University Salzburg, 5020, Salzburg, Austria.
Department of Rare Diseases, European Reference Network for Hereditary Metabolic Diseases, MetabERN, 33100, Udine, Italy.
Orphanet J Rare Dis. 2025 Jan 24;20(1):36. doi: 10.1186/s13023-025-03549-y.
Mucopolysaccharidosis (MPS) are a group of lysosomal storage diseases with substantial unmet medical needs-for both patients and caregivers. Approved therapies are limited, and the perception of investigative ones remains enigmatic.
Using an innovative survey concept based on the discrete choice experiment method (DEC) with neuronopathic and non-neuronopathic patient scenarios, we aimed to evaluate how parents of children with MPS perceive different approved and innovative therapies. The questionnaire was distributed via patient organizations in Germany, Switzerland, and Austria.
Most likely parents would choose an approach to repurposed treatments for their child (neuronopathic: 82%, 14/17 and non-neuronopathic: 94%, 16/17), followed by enzyme replacement therapy (ERT, both 88%, 15/17), hematopoietic stem cell therapy (HSCT, 70%, 12/17 and 76%, 13/17), and finally gene therapy (GT, 58%, 10/17 and 53%, 9/17). The general attitudes strongly influenced decision-making regarding treatment options. While over 80% of respondents who held a positive attitude toward ERT, HSCT, and ITTs indicated they would opt for these therapies in both neuronopathic and non-neuronopathic cases, only about half of the parents with a favorable general view of gene therapy (GT) expressed a positive perception of its likelihood as a treatment option. Furthermore, most parents found mild infections, injection site reactions (ISRs), hypertonia, and treatment-related hospitalizations acceptable and indicated patient organizations as their main source of information.
This study provides an innovative survey method, thereby offering the rationale for a quantitative risk-benefit model and the importance of patient and caregiver-centered information dissemination, especially for innovative therapies.
黏多糖贮积症（MPS）是一组溶酶体贮积病，对患者及其照料者而言，存在大量未满足的医疗需求。获批的治疗方法有限，而对研究性治疗方法的认知仍不明确。
我们采用基于离散选择实验法（DEC）的创新调查概念，设置了神经病变型和非神经病变型患者场景，旨在评估MPS患儿的家长如何看待不同的获批治疗方法和创新治疗方法。问卷通过德国、瑞士和奥地利的患者组织进行分发。
大多数家长最有可能为孩子选择重新利用的治疗方法（神经病变型：82%，14/17；非神经病变型：94%，16/17），其次是酶替代疗法（ERT，均为88%，15/17）、造血干细胞疗法（HSCT，70%，12/17和76%，13/17），最后是基因疗法（GT，58%，10/17和53%，9/17）。总体态度对治疗方案的决策有很大影响。虽然超过80%对ERT、HSCT和ITT持积极态度的受访者表示，他们在神经病变型和非神经病变型病例中都会选择这些疗法，但只有约一半对基因疗法（GT）总体看法良好的家长对其作为治疗选择的可能性持积极看法。此外，大多数家长认为轻度感染、注射部位反应（ISR）、张力亢进和与治疗相关的住院是可以接受的，并表示患者组织是他们主要的信息来源。
本研究提供了一种创新的调查方法，从而为定量风险效益模型提供了理论依据，并强调了以患者和照料者为中心的信息传播的重要性，特别是对于创新疗法。
