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Open research questions in Lysosomal Storage Disorders Research

29 unresolved questions extracted from the limitations and future-work sections of 209 Lysosomal Storage Disorders Research papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • The absence of NPC-specific biochemical testing (cholestane-3β,5α,6β-triol, PPCS, and lysosphingomy- elin), filipin staining, detailed neurological examination, and brain MRI represents an important limitation of this report. In particular, the absence of functional or biochemical validation studies for the two novel NPC1 variants precludes their defini- tive reclassification beyond VUS and represents a key limitation when interpreting their pathogenic role.

    Intrafamilial phenotypic discordance in Niemann–Pick disease type C with novel compound heterozygous NPC1 variants: a case report with literature review · 2026 · DOI

  • Limitations of the Study A major limitation of this study is that it is a cross-sectional study, and we therefore cannot establish a cause–effect relationship between the reduction of LAL activity and the presence of NAFLD/NASH.

    Ten-year enzyme replacement therapy in early childhood-onset lysosomal acid lipase deficiency: A case report · 2026 · DOI

  • Unfortunately, both works are strongly limited by the lack of reporting the center-specific reference values, and it is well known that parametric mapping techniques need center-specific cut-off [37, 38].

    Cardiac magnetic resonance in Pompe disease: a systematic literature review · 2026 · DOI

  • The exact incidence rates of adverse events cannot be calculated from the FAERS voluntary reporting database; validation through prescription claims data linked with adverse event databases is needed to derive accurate denominator data and adjusted incidence rates for crystalloid pathologies (cholelithiasis, nephrolithiasis) and other common signals across enzyme replacement therapy drugs.

    Adverse events signals of enzyme replacement drugs of Gaucher disease: insights from FAERS database analysis · 2026 · DOI

  • Long-term safety surveillance extending beyond typical clinical trial durations (>1 year post-initiation) is required to systematically document and characterize the delayed onset of adverse events with enzyme replacement therapy in Gaucher disease, as the time-to-onset distribution shows many serious events manifest years after treatment initiation.

    Adverse events signals of enzyme replacement drugs of Gaucher disease: insights from FAERS database analysis · 2026 · DOI

  • Patient stratification research should identify genetic, GD-subtype, and clinical characteristics that predict individual susceptibility to specific adverse events with ERT (e.g., crystalloid pathologies, retinal complications, infusion-related reactions) to enable personalized safety monitoring protocols.

    Adverse events signals of enzyme replacement drugs of Gaucher disease: insights from FAERS database analysis · 2026 · DOI

  • Mechanistic research is needed to elucidate why infection risk (respiratory infections, ear infections) differs between imiglucerase, velaglucerase alfa, and taliglucerase alfa by examining how their distinct manufacturing processes influence immune system activation and susceptibility to infections in Gaucher disease patients.

    Adverse events signals of enzyme replacement drugs of Gaucher disease: insights from FAERS database analysis · 2026 · DOI

  • Prospective clinical trials are needed to confirm pharmacovigilance signals detected in the FAERS database for ERT drugs, particularly drug-unique signals like zinc deficiency with velaglucerase alfa and hepatic fibrosis with taliglucerase alfa, which cannot establish causality from spontaneous adverse event reports alone.

    Adverse events signals of enzyme replacement drugs of Gaucher disease: insights from FAERS database analysis · 2026 · DOI

  • The gender disparity in adverse event reporting among Gaucher disease patients on enzyme replacement therapy (ERT) requires investigation of biological mechanisms (immune system differences, hormone levels) and behavioral factors (healthcare provider contact frequency) to determine whether women experience genuinely higher ERT-related adverse events or report them more frequently.

    Adverse events signals of enzyme replacement drugs of Gaucher disease: insights from FAERS database analysis · 2026 · DOI

  • In case of an abnormal result and as long as the basic defect has not been elucidated, the disease is labeled CDG-x (CDG-Ix when the transferrin IEF shows a type 1 pattern, and CDG-IIx when it shows a type 2 pattern).

    Congenital disorders of glycosylation · 2010 · DOI

  • Consistent with these mechanisms, LXR activation alone is insufficient to rescue the impairment of white matter repair induced by LAL deficiency.

    Lysosomal cholesteryl ester hydrolysis drives white matter repair by reprogramming microglia into a novel reparative state · 2026 · DOI

  • The observed correlation between low rhGAA concentration and reduced hypersensitivity risk provides a preliminary indication and needs to be validated in larger clinical cohorts.

    Management of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review · 2026 · DOI

  • Due to the single-case design, this study cannot definitively distinguish whether IARs are driven primarily by drug concentration, total dose, or infusion rate.

    Management of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review · 2026 · DOI

  • The patient's CRIM-negative status was predicted solely from homozygous nonsense GAA mutations rather than confirmed by experimental assays.

    Management of life-threatening anaphylaxis to enzyme replacement therapy in an infant with Pompe disease: a case report and literature review · 2026 · DOI

  • In spite of numerous pathogenetic principles invoked, such as a defect in lipid peroxidation, abnormalities of dolichols and dolichol phosphates, and defects in protease inhibitors, precise pathogenesis and etiology of the neuronal ceroid-lipofuscinoses remain elusive.

    Topical Review: The Neuronal Ceroid-Lipofuscinoses · 1995 · DOI

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29 open questions have been extracted from the limitations and future-work passages of 209 Lysosomal Storage Disorders Research papers in our library. Each one below links back to the study that raised it, so you can read the original claim in context.

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