ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis 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
28 citing papers in PubMed, 1 synthesis or guideline pooled it.
- International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.Journal of inherited metabolic disease · 2021Guideline
- D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.Orphanet journal of rare diseases · 2021Trial
- Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.Orphanet journal of rare diseases · 2021Trial
- Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor.JIMD reports · 2025Article
- Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.Frontiers in endocrinology · 2025Review
- Candidate SNP Markers Significantly Altering the Affinity of the TATA-Binding Protein for the Promoters of Human Genes Associated with Primary Open-Angle Glaucoma.International journal of molecular sciences · 2024Article
- Impaired myoblast differentiation and muscle IGF-1 receptor signaling pathway activation after N-glycosylation inhibition.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- Exploring the glycolytic cross-talk genes between inflammatory bowel disease and colorectal cancer.Functional & integrative genomics · 2023Article
- Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects.Molecular genetics and metabolism · 2023Review
- Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.Molecular genetics and metabolism · 2023Article
- Hemostatic defects in congenital disorders of glycosylation.Research and practice in thrombosis and haemostasis · 2023Article
- [Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Hyperinsulinism May Be Underreported in Hypoglycemic Patients with Phosphomannomutase 2 DeficiencyJournal of clinical research in pediatric endocrinology · 2022Article
- Nutrition interventions in congenital disorders of glycosylation.Trends in molecular medicine · 2022Review
- MS-based glycomics: An analytical tool to assess nervous system diseases.Frontiers in neuroscience · 2022Review
- Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.Frontiers in immunology · 2022Article
- Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.Annals of neurology · 2021Article
- Genotype-Phenotype Correlations in PMM2-CDG.Genes · 2021Article
- Anthropometric Phenotype of Patients with PMM2-CDG.Children (Basel, Switzerland) · 2021Article
- Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.Diagnostics (Basel, Switzerland) · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is known about the longitudinal evolution.
methodsWe performed data analysis on PMM2-CDG patients' clinical features according to the Nijmegen CDG severity score and laboratory data. Seventy-five patients (28 males) were followed up from 11.0 ± 6.91 years for an average of 7.4 ± 4.5 years.
resultsOn a group level, there was no significant evolution in overall clinical severity. There was some improvement in mobility and communication, liver and endocrine function, and strabismus and eye movements. Educational achievement and thyroid function worsened in some patients. Overall, the current clinical function, the system-specific involvement, and the current clinical assessment remained unchanged. On follow-up there was improvement of biochemical variables with (near) normalization of activated partial thromboplastin time (aPTT), factor XI, protein C, antithrombin, thyroid stimulating hormone, and liver transaminases.
conclusionPMM2-CDG patients show a spontaneous biochemical improvement and stable clinical course based on the Nijmegen CDG severity score. This information is crucial for the definition of endpoints in clinical trials.
Indexed as
Identifiers
30293989What 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.