Molecular genetics and metabolism · 2026
Clinical characteristics and management of patients with mucopolysaccharidosis II in the United States enrolled in the Hunter Outcome Survey.
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Burton Barbara K, Ficicioglu Can, Pedro Helio, Eisengart Julie B, Botha Jaco, Pathak Ravi, Robinson Ian, Wright Ekaterina, Muenzer Joseph
Аннотация
BACKGROUND: In 2022, mucopolysaccharidosis II (MPS II) was added to the list of disorders recommended for inclusion in newborn screening panels in the USA; this is expected to substantially facilitate earlier diagnosis and treatment and improve patient outcomes. An analysis was conducted in US patients enrolled in the Hunter Outcome Survey (HOS) registry, to support the need for an updated understanding of MPS II and its management in the US population at this important juncture.
RESULTS: The US cohort comprised 326 patients with MPS II (median ages at symptom onset and at diagnosis of 1.5 year and 3.0 years, respectively). Of the patients for whom genotype data were available, over half (50.9%) had a missense variant in the iduronate-2-sulfatase gene. The most commonly reported disease manifestations were joint stiffness (52.5%) and coarse facial features (51.8%), with chronic otitis media being the earliest presenting sign (presenting at a median age of 1.2 years). Most patients (88.7%) received at least one dose of enzyme replacement therapy (ERT), and more than half of patients for whom there were available data started treatment before 6 years of age (160/289; 55.4%); 44/289 patients (15.2%) started treatment before 18 months of age. Surgery was reported in 218/219 patients (99.5%); the most common was port-a-cath placement or replacement (53.0%); the earliest common surgery was tonsillectomy (first surgery at a median age of 2.7 years). Data on cognitive status after 5 years of age were available for 166 patients, of whom 73 (44.0%) had cognitive impairment. Median ages at symptom onset and at diagnosis in patients with cognitive impairment (1.0 year and 2.5 years, respectively) were slightly lower than those for patients without cognitive impairment (3.0 years and 4.0 years, respectively). Most disease characteristics were similar between different racial subgroups and the overall cohort, although cognitive impairment was numerically more prevalent among underrepresented patient groups compared with White patients.
CONCLUSIONS: These data from HOS provide an updated comprehensive insight into the characteristics of MPS II and its management in the USA and are expected to inform clinical decision-making alongside the implementation of newborn screening. Differences identified in the proportion of patients from underrepresented groups between those with cognitive impairment and those without highlight the continued need to promote diversity in research, detection and access.
RESULTS: The US cohort comprised 326 patients with MPS II (median ages at symptom onset and at diagnosis of 1.5 year and 3.0 years, respectively). Of the patients for whom genotype data were available, over half (50.9%) had a missense variant in the iduronate-2-sulfatase gene. The most commonly reported disease manifestations were joint stiffness (52.5%) and coarse facial features (51.8%), with chronic otitis media being the earliest presenting sign (presenting at a median age of 1.2 years). Most patients (88.7%) received at least one dose of enzyme replacement therapy (ERT), and more than half of patients for whom there were available data started treatment before 6 years of age (160/289; 55.4%); 44/289 patients (15.2%) started treatment before 18 months of age. Surgery was reported in 218/219 patients (99.5%); the most common was port-a-cath placement or replacement (53.0%); the earliest common surgery was tonsillectomy (first surgery at a median age of 2.7 years). Data on cognitive status after 5 years of age were available for 166 patients, of whom 73 (44.0%) had cognitive impairment. Median ages at symptom onset and at diagnosis in patients with cognitive impairment (1.0 year and 2.5 years, respectively) were slightly lower than those for patients without cognitive impairment (3.0 years and 4.0 years, respectively). Most disease characteristics were similar between different racial subgroups and the overall cohort, although cognitive impairment was numerically more prevalent among underrepresented patient groups compared with White patients.
CONCLUSIONS: These data from HOS provide an updated comprehensive insight into the characteristics of MPS II and its management in the USA and are expected to inform clinical decision-making alongside the implementation of newborn screening. Differences identified in the proportion of patients from underrepresented groups between those with cognitive impairment and those without highlight the continued need to promote diversity in research, detection and access.