Trial reportJournal of inherited metabolic disease2013
Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study.
Trial report in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01268358 (A Single Center, Open-label, Dose Escalation Study of the Safety and Pharmacokinetics of rhLAMAN), which is not on this map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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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.
A Single Center, Open-label, Dose Escalation Study of the Safety and Pharmacokinetics of rhLAMAN (Recombinant Human Alpha-mannosidase or Lamazym) for the Treatment of Patients With Alpha-mannosidosis.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Clinical outcomes in alpha-mannosidosis: a systematic review of therapeutic approaches.Orphanet journal of rare diseases · 2026Pooled it
- Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial.Journal of inherited metabolic disease · 2018Trial
- Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.Journal of inherited metabolic disease · 2018Trial
- Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.Orphanet journal of rare diseases · 2015Trial
- Alpha-Mannosidosis in a 3.5-Year-Old Girl: A Case Report.Clinical case reports · 2026Article
- Choroid plexus-targeted viral gene therapy for alpha-mannosidosis, a prototypical neurometabolic lysosomal storage disease.Human molecular genetics · 2025Article
- Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Article
- α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.Orphanet journal of rare diseases · 2024Article
- Article
- Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in theFrontiers in genetics · 2024Article
- Relationship betweenJIMD reports · 2023Article
- Long-term outcome of patients with alpha-mannosidosis - A single center study.Molecular genetics and metabolism reports · 2022Article
- Systematic Review of Early Phase Pediatric Clinical Pharmacology Trials.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG · 2022Article
- Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis.JIMD reports · 2020Article
- Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.Molecular genetics and metabolism reports · 2020Article
- Tasked with a Challenging Objective: Why Do Neutrophils Fail to BattlePathogens (Basel, Switzerland) · 2019Review
- Frontline Science: Employing enzymatic treatment options for management of ocular biofilm-based infections.Journal of leukocyte biology · 2019Article
- Lysosomal diseases: Overview on current diagnosis and treatment.Genetics and molecular biology · 2019Article
- Retinal and optic nerve degeneration in α-mannosidosis.Orphanet journal of rare diseases · 2018Article
- Alpha-Mannosidosis: Therapeutic Strategies.International journal of molecular sciences · 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
22 authors at 11 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlpha-mannosidosis (OMIM 248500) is a rare lysosomal storage disease (LSD) caused by alpha-mannosidase deficiency. Manifestations include intellectual disabilities, facial characteristics and hearing impairment. A recombinant human alpha-mannosidase (rhLAMAN) has been developed for weekly intravenous enzyme replacement therapy (ERT). We present the preliminary data after 12 months of treatment.
methodsThis is a phase I-II study to evaluate safety and efficacy of rhLAMAN. Ten patients (7-17 y) were treated. We investigated efficacy by testing motor function (6-minutes-Walk-Test (6-MWT), 3-min-Stair-Climb-Test (3-MSCT), The Bruininks-Oseretsky Test of Motor Proficiency (BOT2), cognitive function (Leiter-R), oligosaccharides in serum, urine and CSF and Tau- and GFA-protein in CSF.
resultsOligosaccharides: S-, U- and CSF-oligosaccharides decreased 88.6% (CI -92.0 -85.2, p < 0.001), 54.1% (CI -69.5- -38.7, p < 0,001), and 25.7% (CI -44.3- -7.1, p < 0.05), respectively. Biomarkers: CSF-Tau- and GFA-protein decreased 15%, p < 0.009) and 32.5, p < 0.001 respectively. Motor function: Improvements in 3MSCT (31 steps (CI 6.8-40.5, p < 0.01) and in 6MWT (60.4 m (CI -8.9 -51.1, NS) were achieved. Cognitive function: Improvement in the total Equivalence Age of 4 months (0.34) was achieved in the Leiter R test (CI -0.2-0.8, NS).
conclusionsThese data suggest that rhLAMAN may be an encouraging new treatment for patients with alpha-mannosidosis.The study is designed to continue for a total of 18 months. Longer-term follow-up of patients in this study and the future placebo-controlled phase 3 trial are needed to provide greater support for the findings in this study.
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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.