ReviewJournal of inherited metabolic disease2017
Enzyme replacement therapy and beyond-in memoriam Roscoe O. Brady, M.D. (1923-2016).
Review in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 54 citations in OpenAlex.
- Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.Expert review of molecular diagnostics · 2018Pooled it
- A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay-Sachs Disease.Neurology international · 2025Review
- Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.Paediatric drugs · 2024Review
- Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review.Cureus · 2024Review
- Review
- Modifying enzyme replacement therapy - A perspective.Journal of cellular and molecular medicine · 2023Review
- Precocious puberty in patients with Pompe disease.Frontiers in endocrinology · 2023Article
- A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.International journal of neonatal screening · 2022Review
- Review
- Therapeutic Strategies For Tay-Sachs Disease.Frontiers in pharmacology · 2022Review
- TweenNanomaterials (Basel, Switzerland) · 2021Article
- Current and emerging pharmacotherapy for Gaucher disease in pediatric populations.Expert opinion on pharmacotherapy · 2021Article
- Nanofibrous Formulation of Cyclodextrin Stabilized Lipases for Efficient Pancreatin Replacement Therapies.Pharmaceutics · 2021Article
- New paradigms for the treatment of lysosomal storage diseases: targeting the endocannabinoid system as a therapeutic strategy.Orphanet journal of rare diseases · 2021Review
- Relevance of Electrostatics for the Interaction of Tyrosine Hydroxylase with Porous Silicon Nanoparticles.Molecular pharmaceutics · 2021Article
- FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.PloS one · 2020Article
- Review
- Coexpression of novel furin-resistant LPL variants with lipase maturation factor 1 enhances LPL secretion and activity.Journal of lipid research · 2018Article
- Enzyme replacement therapy: efficacy and limitations.Italian journal of pediatrics · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage disorders are strong candidates for the development of specific innovative therapies. The discovery of enzyme deficiencies is an important milestone in understanding the underlying cause of disease. Being able to replace the first missing enzyme in a lysosomal storage required three decades of dedicated research. Successful drug development for lysosomal storage disorders was fostered by the U.S. Orphan Drug Act. Various optimization strategies have the potential to overcome the current limitations of enzyme replacement therapies. In addition, substrate reduction therapies are an alternative approach to treat lysosomal storage disorders, chemical chaperones enhance residual enzyme activity, and small molecules can facilitate substrate transport through subcellular compartments. Bone-marrow derived multipotent stem cells and gene therapies have received FDA orphan drug designation status. The science of small clinical trials played an essential role: non-neurological endpoints, biomarker, and regulatory alignment are key factors in successful drug development for lysosomal storage disorders. Being able to treat brain disease is the next frontier. This review is dedicated to the memory of Roscoe O. Brady, an early pioneer in the research of lysosomal storage diseases.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.