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Advancing Treatments for Rare Renal Diseases: New Hopes and Opportunities to Address a High Unmet Need
Davide Garrisi1, Andrew Bevan2, Carmichael Angeles3
1General Medicine, PPD, part of Thermo Fisher Scientific, Milan, Italy.
Insights
Clinical research in rare kidney diseases has surged, with significant increases in observational studies and trials focusing on conditions like lupus nephritis and ADPKD. Industry funding also rose, indicating progress in translating basic science into clinical research.
Area of Science:
- Nephrology
- Rare Diseases
- Clinical Research Trends
Background:
- Chronic kidney disease (CKD) has complex etiologies, with diabetes and hypertension accounting for two-thirds of cases.
- Rare inherited genetic diseases constitute the remaining third of CKD cases.
- Previous analysis indicated a 54% increase in CKD clinical studies over the past decade.
Purpose of the Study:
- To investigate the hypothesis of a greater increase in clinical studies for rare renal diseases compared to CKD overall.
- To analyze trends in rare renal disease research using metadata from ClinicalTrials.gov.
Main Methods:
- Searched ClinicalTrials.gov for 49 rare renal diseases between January 2003 and December 2022.
- Divided studies into two periods: 2003-2012 (P1) and 2013-2022 (P2).
- Analyzed studies by type, phase, indication, primary endpoint, population, and funding source.
Main Results:
- Total rare renal disease studies increased by 123% in P2 vs. P1 (p < 0.001), with observational studies rising by 283% (p < 0.001).
- Interventional studies grew by 93% (p < 0.01), particularly early-phase trials (205% increase, p < 0.001).
- Lupus nephritis (LN), autosomal dominant polycystic kidney disease (ADPKD), and IgA nephropathy showed significant increases (77-166%, p < 0.05 - p < 0.001).
- Pediatric population studies increased by 78% (p < 0.01), and industry-funded studies by 225% (p < 0.001).
Conclusions:
- Clinical research in rare renal diseases has significantly increased, especially for glomerular diseases and ADPKD.
- The rise in observational studies suggests a greater focus on disease pathophysiology and natural history.
- Increased industry funding points to the successful translation of basic science discoveries into clinical research for rare kidney diseases.
Introduction:
The etiology of chronic kidney disease (CKD) is varied and complex. Diabetes and hypertension comprise 2/3 of cases and rare conditions, including inherited genetic diseases, comprise 1/3. We previously reported a 54% increase in clinical studies in CKD in the last 10 years. Hypothesizing a greater increase in rare renal disease studies, we undertook further analysis of metadata from Clinicaltrials.gov.
Methods:
CT.gov was searched for 49 conditions determined to be rare renal diseases posted between Jan-2003 and Dec-2022. Studies were divided into 2 time periods: P1 (2003-2012) and P2 (2013-2022) and analyzed by study type, phase, indication, primary endpoint, population, and funding.
Results:
Studies increased significantly in P2 versus P1 (123%, p < 0.001) with the greatest rise in observational studies (283%, p < 0.001). Interventional studies increased 93% (p < 0.01), with the greatest rise in early phases (205%, p < 0.001). The most frequent indications were LN, ADPKD, and IgA nephropathy; all increased 77-166% in P2 (p < 0.05 - p < 0.001). Proteinuria was the most frequent primary endpoint, which increased 63% (p = 0.054). Studies with pediatric populations increased 78% (p < 0.01). Most studies were nonindustry funded; however, industry-funded studies increased by 225% (p < 0.001).
Conclusion:
Clinical research in rare renal diseases has increased significantly in the last 10 years, particularly in glomerular diseases (GDs) and ADPKD. Proteinuria correlates with outcomes in GD, which explains the high percentage of studies with this primary endpoint. Rare renal diseases disproportionately affect children and the rise in studies with pediatric populations is encouraging. The rise in observational studies may signal an increased focus on understanding the natural course and pathophysiology of disease, which may lead to new potential therapeutic targets and future interventional studies. The increase in industry-funded studies suggests basic science is translating into industry-sponsored research.
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