ArticleOrphanet journal of rare diseases2025
Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase 1-2 Trial.The New England journal of medicine · 2026Trial
- Expanded Access use of Intravenous Gene Transfer with AAV9-GLB1 in a Juvenile GM1 Gangliosidosis Participant.medRxiv : the preprint server for health sciences · 2026Article
- Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.Orphanet journal of rare diseases · 2026Observational
- Outcome strategies for clinical trials in Neuropaediatric rare diseases.Neuroscience applied · 2026Review
- Methodological challenges in outcomes research for early-trials for implementation of new therapies in neuropediatric rare diseases.Orphanet journal of rare diseases · 2025Article
- Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype.medRxiv : the preprint server for health sciences · 2025Article
- A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis.NeuroSci · 2025Article
- Clozapine for Patients With Intellectual Disabilities: A Case Series Illustrating the Clinical Potentials.Case reports in psychiatry · 2025Article
- Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases.Brain communications · 2025Article
- Clinical and biological distinctions between catatonia due to a medical condition and catatonia associated with a psychiatric disorder.General hospital psychiatryArticle
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Authors and funding
9 authors.
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Abstract
backgroundClinical trials for rare diseases pose unique challenges warranting alternative approaches in demonstrating treatment efficacy. Such trials face challenges including small patient populations, variable onset of symptoms and rate of disease progression, and ethical considerations, particularly in neurodegenerative diseases. In this study, we present the retrospective clinical global impression (RCGI) severity and change (RCGI-S/C) scale on 27 patients with GM1 gangliosidosis, a post hoc clinician-rated outcome measure to evaluate natural history study participants as historical controls for comparisons with treated patients in a clinical trial.
methodsWe conducted a systematic chart review of 27 GM1 gangliosidosis natural history participants across 95 total visits. RCGI-S was assessed at the first visit and rated 1 (normal) to 7 (among the most extremely ill). Each subsequent follow-up was rated on the RCGI-C scale from 1 (very much improved) to 7 (very much worse). We demonstrate scoring guidelines of both scales with examples and justifications for this pilot in GM1 gangliosidosis natural history participants. The convergent validity of the RCGI scales was explored through correlations with magnetic resonance imaging (MRI) and the Vineland Adaptive Behavioral Scales.
resultsWe found strong association between the RCGI-S scores with gray matter volume (r(14) = -0.81; 95% CI [-0.93, -0.51], p < 0.001), and RCGI-C scores significantly correlated with increases in ventricular volume (χ
conclusionRCGI-S/C scales, which use the clinical evaluation to assess the severity of disease of each patient visit over time, were consolidated into a single quantitative metric in this study. Longitudinal RCGI-C scores allowed us to quantify disease progression in our late-infantile and juvenile GM1 patients. We suggest that the retrospective CGI may be an important tool in evaluating historical data for comparison with changes in disease progression/mitigation following therapeutic interventions.
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