ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01870375 (Longitudinal Studies of Brain Structure and Function in MPS Disorders), which is not on this map. Cited by 40 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.
Longitudinal Studies of Brain Structure and Function in MPS Disorders
Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials.Orphanet journal of rare diseases · 2025Pooled it
- International Recommendations for Screening and Preventative Practices for Long-Term Survivors of Transplantation and Cellular Therapy: A 2023 Update.Transplantation and cellular therapy · 2024Guideline
- Safety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study.Orphanet journal of rare diseases · 2025Trial
- Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.Molecular genetics and metabolism · 2020Trial
- Late Mortality after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A Report from the Blood or Marrow Transplant Survivor Study-2 (BMTSS-2).Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2019Trial
- First-in-human intracisternal dosing of RGX-111 in severe MPS I is well tolerated and generates sustained neurodevelopment without HSCT.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis.Molecular genetics and metabolism reports · 2026Review
- Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.Orphanet journal of rare diseases · 2025Article
- Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy.CNS neuroscience & therapeutics · 2025Review
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- Article
- International recommendations for screening and preventative practices for long-term survivors of transplantation and cellular therapy: a 2023 update.Bone marrow transplantation · 2024Review
- Adeno-associated Virus-Mediated Gene Delivery Across the Blood-Brain Barrier.Advances in neurobiology · 2024Review
- Venous Sinus Stenosis with Prominent Emissary Veins: A New Common Cranial MRI Finding of Mucopolysaccharidosis I.AJNR. American journal of neuroradiology · 2023Article
- Posterior Fossa Horns in Hurler Syndrome: Prevalence and Regression.AJNR. American journal of neuroradiology · 2023Article
- Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.Bone marrow transplantation · 2023Article
- Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.Orphanet journal of rare diseases · 2022Article
- Pathogenic Roles of Heparan Sulfate and Its Use as a Biomarker in Mucopolysaccharidoses.International journal of molecular sciences · 2022Review
- Mucopolysaccharidoses and the blood-brain barrier.Fluids and barriers of the CNS · 2022Review
- Contribution of the innate and adaptive immune systems to aortic dilation in murine mucopolysaccharidosis type I.Molecular genetics and metabolism · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 8 institutions in 6 countries.
Funding
Abstract
purposeEarly treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate the blood-brain barrier (BBB) support recommendations that hematopoietic cell transplantation (HCT) treat the severe, neurodegenerative form (Hurler syndrome). Ethics precludes randomized comparison of ERT with HCT, but insight into this comparison is presented with an international cohort of patients with Hurler syndrome who received long-term ERT from a young age.
methodsLong-term survival and neurologic outcomes were compared among three groups of patients with Hurler syndrome: 18 treated with ERT monotherapy (ERT group), 54 who underwent HCT (HCT group), and 23 who received no therapy (Untreated). All were followed starting before age 5 years. A sensitivity analysis restricted age of treatment below 3 years.
resultsSurvival was worse when comparing ERT versus HCT, and Untreated versus ERT. The cumulative incidences of hydrocephalus and cervical spinal cord compression were greater in ERT versus HCT. Findings persisted in the sensitivity analysis.
conclusionAs newborn screening widens treatment opportunity for Hurler syndrome, this examination of early treatment quantifies some ERT benefit, supports presumptions about BBB impenetrability, and aligns with current guidelines to treat with HCT.
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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.