Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts
RCGI-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.
Authors
- David Adams (ORCID: https://orcid.org/0000-0001-6776-0336)
- Maria T. Acosta (ORCID: https://orcid.org/0000-0001-8914-7401)
- Precilla D’Souza (ORCID: https://orcid.org/0000-0002-8468-5822)
- Jean M. Johnston
- Cynthia J. Tifft (ORCID: https://orcid.org/0000-0002-3931-1207)
- Sílvia Zaragoza Domingo (ORCID: https://orcid.org/0000-0002-8568-4696)
- Gilbert Vézina (ORCID: https://orcid.org/0000-0002-1999-336X)
- Connor Lewis (ORCID: https://orcid.org/0000-0002-8204-5848)
- William A. Gahl (ORCID: https://orcid.org/0000-0002-2494-6752)
Institutions
- National Institutes of Health (US)
- Children's National (US)
- National Human Genome Research Institute (US)
- Université Bourgogne Franche-Comté (FR)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-03-14
- DOI
- https://doi.org/10.1186/s13023-025-03614-6
- Citations
- 10
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 11.64
Funders
- National Human Genome Research Institute