Trial reportAnnals of clinical and translational neurology2019
Identification of serum microRNAs as potential biomarkers in Pompe disease.
Trial report in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT01914536 (A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI), which is not on this map. Cited by 20 papers.
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 Natural History Study of Adult Onset Pompe Disease Using Muscle MRI
Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- Identification of serum microRNAs as potential biomarkers in Pompe disease.Annals of clinical and translational neurology · 2019Trial
- A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.International journal of molecular sciences · 2026Review
- Identification of miRNAs Associated with Infantile-Onset Pompe Disease.Molecular syndromology · 2025Article
- Exosomes in Clinical Laboratory: From Biomarker Discovery to Diagnostic Implementation.Medicina (Kaunas, Lithuania) · 2025Review
- Combined miRNA transcriptome and proteome analysis of extracellular vesicles in urine and blood from the Pompe mouse model.Annals of medicine · 2024Article
- The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).Orphanet journal of rare diseases · 2024Review
- Biomarkers for gene therapy clinical trials of lysosomal storage disorders.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Circulating miR-28-5p is overexpressed in patients with sarcopenia despite long-term remission of Cushing's syndrome: a pilot study.Frontiers in endocrinology · 2024Article
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.Biology · 2023Review
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- Erratum.Annals of clinical and translational neurology · 2022Article
- Current status of newborn screening for Pompe disease in Japan.Orphanet journal of rare diseases · 2021Article
- Construction of five microRNAs prognostic markers and a prognostic model for clear cell renal cell carcinoma.Translational cancer research · 2021Article
- The rapidly evolving view of lysosomal storage diseases.EMBO molecular medicine · 2021Review
- MicroRNA-197-3p Inhibits the Osteogenic Differentiation in Osteoporosis by Down-Regulating KLF 10.Clinical interventions in aging · 2021Article
- Advances in diagnosis and management of Pompe disease.Journal of mother and child · 2020Review
- Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.Biomolecules · 2020Review
- Review
- Review
- Downregulation of miR-335-5P in Amyotrophic Lateral Sclerosis Can Contribute to Neuronal Mitochondrial Dysfunction and Apoptosis.Scientific reports · 2020Article
Corrections and comments
- Erratum issuedErratum.2022
Authors and funding
15 authors at 1 institution in 2 countries.
Funding
Abstract
objectiveTo analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD).
methodsWe analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. The expression levels of microRNAs that were deregulated were further studied in 35 AOPD patients and 10 controls using Real-Time PCR. Additionally, the skeletal muscle expression of microRNAs which showed significant increase levels in serum samples was also studied. Correlations between microRNA serum levels and muscle function test, spirometry, and quantitative muscle MRI were performed (these data correspond to the study NCT01914536 at ClinicalTrials.gov).
resultsWe identified 14 microRNAs that showed different expression levels in serum samples of AOPD patients compared to controls. We validated these results in a larger cohort of patients and we found increased levels of three microRNAs, the so called dystromirs: miR-1-3p, miR-133a-3p, and miR-206. These microRNAs are involved in muscle regeneration and the expression of these was increased in patients' muscle biopsies. Significant correlations between microRNA levels and muscle function test were found.
interpretationSerum expression levels of dystromirs may represent additional biomarkers for the follow-up of AOPD patients.
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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.