Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase

Hogan, Melissa; Stephens, Kim; Smith, Erin; Jalazo, Elizabeth; Hendriksz, Christian J.; Edwards, Lloyd J.; Bjoraker, Kendra

doi:10.1016/j.ymgmr.2020.100669

Cited by 3 publications

(1 citation statement)

References 14 publications

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“…In total, 186 community members took the Toileting Abilities Survey (TAS). Data from the study was published in Molecular Genomics and Metabolism Reports and is expected to contribute meaningfully to the use of new outcome measures in clinical trials for Hunter syndrome (Hogan et al, 2020).…”

Section: Case Example—project Alivementioning

confidence: 99%

Backpack health reduces data‐sharing barriers between the medical community and individuals with rare diseases

May¹,

Towne

Haynes

et al. 2020

American J of Med Genetics Pt C

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Technology has changed the way we approach medical care: health data is constantly being generated, medical discoveries are progressing more rapidly, and individuals are more connected across the world than ever before. Backpack Health is a global personal health record platform that harnesses the power of technology to connect users to their primary health data sources, the medical community, and researchers. By syncing with existing patient portals, health data can be stored on the Backpack Health platform and easily accessed and controlled by users in one connected interface. Individuals manage and collate their current and past conditions, genetic test results, symptoms, medications, procedures, labs, and other health data. Users are empowered to disseminate their information to clinicians, researchers, foundations, and pharmaceutical and biotechnology companies they connect with through the Backpack Health application. Here, we describe how two rare disease advocacy groups, The Marfan Foundation and Project Alive, utilize Backpack Health to connect with their target populations. Through secure transfer of pseudonymized data, groups can query their members to improve understanding of clinical features and to facilitate meaningful research. Responses to the groups' surveys show strong member engagement with high completion rates and increases in new Backpack Health users when surveys are deployed. Data from these surveys have been published and used to better inform clinical outcomes for treatment trials. By connecting users directly to the foundations, clinicians, researchers, and industry partners working on their condition, Backpack Health is instrumental in fast‐tracking medical discoveries and treatment for rare diseases.

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Section: Case Example—project Alivementioning

confidence: 99%

Backpack health reduces data‐sharing barriers between the medical community and individuals with rare diseases

May¹,

Towne

Haynes

et al. 2020

American J of Med Genetics Pt C

Self Cite

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Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan

Nakamura,

Sakai,

Hossain

et al. 2024

Orphanet J Rare Dis

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Background Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme designed to cross the blood-brain barrier, was approved in Japan in 2021 as the first enzyme replacement therapy targeting both the neuropathic and somatic signs and symptoms of MPS II. This study reports caregivers’ experiences of MPS II patients receiving pabinafusp alfa through qualitative interviews. Methods Semi-structured, qualitative interviews were conducted with caregivers at seven clinical sites in Japan using a semi-structured moderation guide (Voice of the Caregiver guide). Thematic analysis was applied to the interview transcripts to identify symptoms and health-related quality of life impacts at baseline, changes during treatment, and overall treatment experience. Results Seven caregivers from 16 trial sites participated, representing seven children aged 8–18 years who had received pabinafusp alfa for 3.3–3.5 years at the time of the interviews. Data suggest a general trend toward improvement in multiple aspects, although not all caregivers observed discernible changes. Reported cognitive improvements included language skills, concentration, self-control, eye contact, mental clarity, concept understanding, following instructions, and expressing personal needs. Further changes were reported that included musculoskeletal improvements and such somatic changes as motor function, mobility, organ involvement, joint mobility, sleep patterns, and fatigue. Four caregivers reported improvements in family quality of life, five expressed treatment satisfaction, and all seven indicated a strong willingness to continue treatment of their children with pabinafusp alfa. Conclusion Caregivers’ perspectives in this study demonstrate treatment satisfaction and improvement in various aspects of quality of life following therapy with pabinafusp alfa. These findings enhance understanding of pabinafusp alfa’s potential benefits in treating MPS II and contribute to defining MPS II-specific outcome measures for future clinical trials.

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Caregiver Perspectives on Patients with Mucopolysaccharidosis II Treated with Pabinafusp Alfa: Results of Qualitative Interviews in Japan

Nakamura,

Sakai,

Hossain

et al. 2023

Preprint

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Background Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a rare inherited X-linked metabolic disorder predominantly affecting males. Pabinafusp alfa, an iduronate-2-sulfatase enzyme that can cross the blood-brain barrier, was approved in Japan in 2021 for use in the first enzyme replacement therapy targeting both the neuropathic and somatic symptoms of MPS II. This study explores the experiences of MPS II patients receiving pabinafusp alfa through qualitative interviews with their caregivers. Methods A semi-structured moderation guide (Voice of the Caregiver guide) was used to conduct semi-structured, qualitative interviews with caregivers at clinical sites in Japan. The interview transcripts underwent thematic analysis to identify symptoms and health-related quality of life impacts at baseline, changes since treatment began, and treatment experience. Results Seven caregivers were interviewed, representing seven children aged 8–18 years who had received pabinafusp alfa treatment for 3.3–3.5 years at the time of the interviews. The collective data suggest a general trend towards improvement, although not all caregivers observed discernible changes. Cognitive improvements encompassed language skills, concentration, self-control, eye contact, mental clarity, concept understanding, following instructions, and expressing personal needs. Changes included improvements in motor function and mobility, as well as musculoskeletal and somatic changes, such as organ involvement, joint mobility, sleep patterns, and fatigue. Four caregivers reported improvements in family quality of life, five reported treatment satisfaction, and all seven expressed a strong willingness to continue treating the children with pabinafusp alfa. Conclusion This study of caregivers’ perspectives on the qualitative experiences of patients treated with pabinafusp alfa showed treatment satisfaction and multiple quality of life improvements following therapy. These findings expand understanding of the benefit of using pabinafusp alfa to treat MPS II, and they should be helpful in defining MPS II-specific outcome measures to better determine treatment response in future clinical trials.

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Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase

Cited by 3 publications

References 14 publications

Backpack health reduces data‐sharing barriers between the medical community and individuals with rare diseases

Backpack health reduces data‐sharing barriers between the medical community and individuals with rare diseases

Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan

Caregiver Perspectives on Patients with Mucopolysaccharidosis II Treated with Pabinafusp Alfa: Results of Qualitative Interviews in Japan

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