Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey
Abstract Background Mucopolysaccharidosis II (MPS II) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. The current standard of care for MPS II is intravenous enzyme replacement therapy (ERT), which has been shown to improve somatic signs and symp...
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BMC
2025-07-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-024-03464-8 |
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| author | Joseph Muenzer Hernan Amartino Roberto Giugliani Paul Harmatz Shuan-Pei Lin Bianca Link David Molter Uma Ramaswami Maurizio Scarpa Jaco Botha Jennifer Audi Barbara K. Burton |
| author_facet | Joseph Muenzer Hernan Amartino Roberto Giugliani Paul Harmatz Shuan-Pei Lin Bianca Link David Molter Uma Ramaswami Maurizio Scarpa Jaco Botha Jennifer Audi Barbara K. Burton |
| author_sort | Joseph Muenzer |
| collection | DOAJ |
| description | Abstract Background Mucopolysaccharidosis II (MPS II) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. The current standard of care for MPS II is intravenous enzyme replacement therapy (ERT), which has been shown to improve somatic signs and symptoms and to increase life expectancy by approximately 12 years. This study reported on the somatic disease burden and clinical requirements of adult male patients in the Hunter Outcome Survey (ClinicalTrials.gov Identifier: NCT03292887). Results Of the 373 patients in the analysis, 88 (23.6%) had cognitive impairment and 332 (89.0%) had received ERT. Almost half of all ERT-treated patients (47.0%) had undergone surgery in adulthood; the most common surgery was hernia repair (17.8% of patients). Over one-third (38.6%) reported hearing aid use. The median 6-min walk test distance for 151 treated patients was 436.0 m at the latest assessment after 18 years of age. Cardiovascular signs and symptoms were present in 71.6% (192/268) of patients and 27.3% (60/220) reported oxygen dependency after 18 years of age. Approximately half (50.9%) of ERT-treated patients experienced at least one serious adverse event in adulthood, with the most common being respiratory disorders. Intravenous ERT was well tolerated, with a rate of serious infusion-related reactions in adulthood of 0.03 per 10 patient-years. Conclusions Overall, adult patients with neuronopathic and non-neuronopathic MPS II had a high disease burden and requirement for surgeries, emphasizing the need to continue multidisciplinary management and regular assessments in adulthood. Further research into the differences in care needs of adult patients with MPS II is warranted. Trial registration NCT03292887 . |
| format | Article |
| id | doaj-art-eed1b04c23d64c90af30bc43a3dce318 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-eed1b04c23d64c90af30bc43a3dce3182025-08-20T04:01:40ZengBMCOrphanet Journal of Rare Diseases1750-11722025-07-0120111510.1186/s13023-024-03464-8Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome SurveyJoseph Muenzer0Hernan Amartino1Roberto Giugliani2Paul Harmatz3Shuan-Pei Lin4Bianca Link5David Molter6Uma Ramaswami7Maurizio Scarpa8Jaco Botha9Jennifer Audi10Barbara K. Burton11University of North Carolina at Chapel HillHospital Universitario AustralDepartment of Genetics UFRGS, Medical Genetics Service HCPA, INAGEMP, DASA Genomica and Casa Dos RarosUCSF Benioff Children’s Hospital OaklandMackay Memorial HospitalUniversity Children’s HospitalWashington University School of MedicineLysosomal Storage Disorders Unit, Royal Free London NHS Foundation TrustUdine University HospitalTakeda Pharmaceuticals International AGTakeda Pharmaceuticals International AGAnn & Robert H Lurie Children’s Hospital of Chicago, Northwestern UniversityAbstract Background Mucopolysaccharidosis II (MPS II) is a rare, life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. The current standard of care for MPS II is intravenous enzyme replacement therapy (ERT), which has been shown to improve somatic signs and symptoms and to increase life expectancy by approximately 12 years. This study reported on the somatic disease burden and clinical requirements of adult male patients in the Hunter Outcome Survey (ClinicalTrials.gov Identifier: NCT03292887). Results Of the 373 patients in the analysis, 88 (23.6%) had cognitive impairment and 332 (89.0%) had received ERT. Almost half of all ERT-treated patients (47.0%) had undergone surgery in adulthood; the most common surgery was hernia repair (17.8% of patients). Over one-third (38.6%) reported hearing aid use. The median 6-min walk test distance for 151 treated patients was 436.0 m at the latest assessment after 18 years of age. Cardiovascular signs and symptoms were present in 71.6% (192/268) of patients and 27.3% (60/220) reported oxygen dependency after 18 years of age. Approximately half (50.9%) of ERT-treated patients experienced at least one serious adverse event in adulthood, with the most common being respiratory disorders. Intravenous ERT was well tolerated, with a rate of serious infusion-related reactions in adulthood of 0.03 per 10 patient-years. Conclusions Overall, adult patients with neuronopathic and non-neuronopathic MPS II had a high disease burden and requirement for surgeries, emphasizing the need to continue multidisciplinary management and regular assessments in adulthood. Further research into the differences in care needs of adult patients with MPS II is warranted. Trial registration NCT03292887 .https://doi.org/10.1186/s13023-024-03464-8AdultsCognitive ImpairmentHunter SyndromeMucopolysaccharidosis type IINeuronopathicNon-neuronopathic |
| spellingShingle | Joseph Muenzer Hernan Amartino Roberto Giugliani Paul Harmatz Shuan-Pei Lin Bianca Link David Molter Uma Ramaswami Maurizio Scarpa Jaco Botha Jennifer Audi Barbara K. Burton Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey Orphanet Journal of Rare Diseases Adults Cognitive Impairment Hunter Syndrome Mucopolysaccharidosis type II Neuronopathic Non-neuronopathic |
| title | Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey |
| title_full | Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey |
| title_fullStr | Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey |
| title_full_unstemmed | Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey |
| title_short | Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey |
| title_sort | unmet needs of adults living with mucopolysaccharidosis ii data from the hunter outcome survey |
| topic | Adults Cognitive Impairment Hunter Syndrome Mucopolysaccharidosis type II Neuronopathic Non-neuronopathic |
| url | https://doi.org/10.1186/s13023-024-03464-8 |
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