ArticleMetabolic brain disease2017
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Article in Metabolic brain disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02030015 (Synergistic Enteral Regimen for Treatment of the Gangliosidoses), which is not on this map. Cited by 26 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.
Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G)
Who cites it
26 citing papers in PubMed, 44 citations in OpenAlex.
- Miglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing.International journal of molecular sciences · 2026Review
- Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.Clinical and translational science · 2025Review
- Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene.Frontiers in pediatrics · 2025Article
- Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry.Journal of clinical laboratory analysis · 2025Article
- Therapeutic developments for neurodegenerative GM1 gangliosidosis.Frontiers in neuroscience · 2024Review
- Pathways to healing: Plants with therapeutic potential for neurodegenerative diseases.IBRO neuroscience reports · 2023Article
- Ganglioside GM1 and the Central Nervous System.International journal of molecular sciences · 2023Review
- Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders.Journal of personalized medicine · 2022Review
- Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 PatientsBalkan medical journal · 2022Article
- Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.Biomedicines · 2022Article
- Late-infantile GM1 gangliosidosis: A case report.Medicine · 2022Article
- Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinctJIMD reports · 2021Article
- GM1 Gangliosidosis: Mechanisms and Management.The application of clinical genetics · 2021Review
- GM1 Gangliosidosis-A Mini-Review.Frontiers in genetics · 2021Review
- Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.Molecular genetics & genomic medicine · 2020Article
- The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.Human genetics · 2020Article
- Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GJournal of clinical medicine · 2020Article
- Morquio-B disease: Clinical and genetic characteristics of a distinctJIMD reports · 2020Article
- Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.Scientific reports · 2019Article
- Clinical findings in Brazilian patients with adult GM1 gangliosidosis.JIMD reports · 2019Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Juvenile and adult GM1-gangliosidosis are invariably characterized by progressive neurological deterioration. To date only symptomatic therapies are available. We report for the first time the positive results of Miglustat (OGT 918, N-butyl-deoxynojirimycin) treatment on three Italian GM1-gangliosidosis patients. The first two patients had a juvenile form (enzyme activity ≤5%, GLB1 genotype p.R201H/c.1068 + 1G > T; p.R201H/p.I51N), while the third patient had an adult form (enzyme activity about 7%, p.T329A/p.R442Q). Treatment with Miglustat at the dose of 600 mg/day was started at the age of 10, 17 and 28 years; age at last evaluation was 21, 20 and 38 respectively. Response to treatment was evaluated using neurological examinations in all three patients every 4-6 months, the assessment of Movement Disorder-Childhood Rating Scale (MD-CRS) in the second patient, and the 6-Minute Walking Test (6-MWT) in the third patient. The baseline neurological status was severely impaired, with loss of autonomous ambulation and speech in the first two patients, and gait and language difficulties in the third patient. All three patients showed gradual improvement while being treated; both juvenile patients regained the ability to walk without assistance for few meters, and increased alertness and vocalization. The MD-CRS class score in the second patient decreased from 4 to 2. The third patient improved in movement and speech control, the distance covered during the 6-MWT increased from 338 to 475 m. These results suggest that Miglustat may help slow down or reverse the disease progression in juvenile/adult GM1-gangliosidosis.
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Registered trials
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