Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Hendriksz, Christian J.; Berger, Kenneth I.; Lampe, Christina; Kircher, Susanne Gerit; Orchard, Paul J.; Southall, Rebecca; Long, Sarah; Sande, Stephen; Gold, Jeffrey I.

doi:10.1186/s13023-016-0503-2

Cited by 43 publications

(71 citation statements)

References 65 publications

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“…PRO measures have been included in several clinical trials as efficacy end points. CHAQ/HAQ or MPS-HAQ questionnaires have been used more frequently [161]. Improvement in CHAQ/HAQ Disability Index has been reported for MPSI and MPS II after 1-6 years of ERT [36,38,45,91].…”

Section: Impact Of Ert On Patient Reported Outcomementioning

confidence: 99%

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Parini

Deodato

2020

IJMS

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The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses (MPSs) I, II, IVA, VI and VII, gained in phase III clinical trials and in observational post-approval studies. Post-marketing data are sometimes conflicting or controversial, possibly depending on disease severity, differently involved organs, age at starting treatment, and development of anti-drug antibodies (ADAs). There is general agreement that ERT is effective in reducing urinary glycosaminoglycans and liver and spleen volume, while heart and joints outcomes are variable in different studies. Effectiveness on cardiac valves, trachea and bronchi, hearing and eyes is definitely poor, probably due to limited penetration in the specific tissues. ERT does not cross the blood–brain barrier, with the consequence that the central nervous system is not cured by intravenously injected ERT. All patients develop ADAs but their role in ERT tolerance and effectiveness has not been well defined yet. Lack of reliable biomarkers contributes to the uncertainties about effectiveness. The data obtained from affected siblings strongly indicates the need of neonatal screening for treatable MPSs. Currently, other treatments are under evaluation and will surely help improve the prognosis of MPS patients.

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Section: Impact Of Ert On Patient Reported Outcomementioning

confidence: 99%

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Parini

Deodato

2020

IJMS

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“…The SF-36v2 is a widely used generic measure of HRQoL and the most common patient-reported outcome end point in clinical trials [16–18]. Generic measures of HRQoL allow for comparisons with the general population and other disease populations, which can provide context for rare diseases [19, 20]. …”

Section: Introductionmentioning

confidence: 99%

The burden of amyloid light chain amyloidosis on health-related quality of life

Bayliss

McCausland

Guthrie

et al. 2017

Orphanet J Rare Dis

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BackgroundLight chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality of life. This study aimed to quantify the burden of AL amyloidosis in terms of health-related quality of life in a diverse, community-based sample of AL amyloidosis patients.ResultsThe SF-36v2® Health Survey (SF-36v2), a widely used generic measure of health-related quality of life (using physical and mental summary scales and subscales assessing eight aspects of functioning and well-being), was administered as an online survey of AL amyloidosis patients with AL amyloidosis (ClinicalTrials.gov, NCT02574676; n = 341). Compared with adjusted general population sample norms, health-related quality of life of AL amyloidosis patients was significantly worse across all SF-36v2 scales and summary measures based on analysis of variance (p < 0.05 for all). The largest decrement in AL amyloidosis patients was related to General Health (Δ = 9.7; p < 0.001). With the exception of Bodily Pain and Mental Health, differences were also clinically meaningful based on established clinically minimal important differences. The burden of AL amyloidosis overall and in key subgroups tended to be greater on physical health than on mental health. Stratified analyses indicated additional burden among patients with recently diagnosed disease and those with cardiac involvement than among their respective counterparts.ConclusionUnderstanding the burden of AL amyloidosis highlights the unmet need for treatment, helps physicians identify ancillary treatments and services geared towards improving patients’ functioning, well-being, and overall health-related quality of life. These findings also help to support the use of health-related quality of life end points as important outcome measures in current and future treatment studies.Trial registrationClinicalTrials.gov, NCT02574676. Registered October 5, 2015.

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“…Both gene products are involved in similar processes in lysosomes where they catalyze the degradation of heparan sulfate and dermatan sulfate (11,13). MPS I and II are still life-threatening diseases leading to a premature death and high morbidity (14,15). However, for a few years enzyme replacement therapies are now available that have also been shown to attenuate the phenotypic features (16)(17)(18)(19).…”

Section: Methodsmentioning

confidence: 99%

Advances in computer-assisted syndrome recognition and differentiation in a set of metabolic disorders

Zhao

et al. 2017

Preprint

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Abstract:Significant improvements in automated image analysis have been achieved over the recent years and tools are now increasingly being used in computer-assisted syndromology. However, the recognizability of the facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex.Therefore, benchmarking and comparing the performance of deep-learned classification processes is inherently difficult.For a systematic analysis of these influencing factors we chose the lysosomal storage diseases Mucolipidosis as well as Mucopolysaccharidosis type I and II, that are known for their wide and overlapping phenotypic spectra. For a dysmorphic comparison we used Smith-Lemli-Opitz syndrome as a metabolic disease and Nicolaides-Baraitser syndrome as another disorder that is also characterized by coarse facies. A classifier that was trained on these five cohorts, comprising 288 patients in total, achieved a mean accuracy of 62%.The performance of automated image analysis is not only significantly higher than randomly expected but also better than in previous approaches. In part this might be explained by our . CC-BY-NC-ND 4.0 International license not peer-reviewed) is the author/funder. It is made available under aThe copyright holder for this preprint (which was . http://dx.doi.org/10.1101/219394 doi: bioRxiv preprint first posted online Nov. 14, 2017; large training sets. We therefore set up a simulation pipeline that is suited to analyze the effect of different potential confounders, such as cohort size, age, sex, or ethnic background on the recognizability of phenotypes. We found that the true positive rate increases for all analyzed disorders for growing cohorts (n=[10...40]) while ethnicity and sex have no significant influence.The dynamics of the accuracies strongly suggest that the maximum recognizability is a phenotype-specific value, that hasn't been reached yet for any of the studied disorders. This should also be a motivation to further intensify data sharing efforts, as computer-assisted syndrome classification can still be improved by enlarging the available training sets.Availability: software for classification: https://app.face2gene.com/research,

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Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Cited by 43 publications

References 65 publications

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

The burden of amyloid light chain amyloidosis on health-related quality of life

Advances in computer-assisted syndrome recognition and differentiation in a set of metabolic disorders

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