Research map: From Small Data to Big Decisions: How Clinical Pharmacology Shapes Rare Disease Development

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Papers in this map

  1. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database · Stéphanie Nguengang Wakap · 2019 · 1877 citations · Cited by this paper
  2. Comment on “Understanding Atomoxetine Exposure Variability in Children and Adolescents with ADHD through Population Pharmacokinetics” · 2026 · Related
  3. Basic Concepts in Physiologically Based Pharmacokinetic Modeling in Drug Discovery and Development · HM Jones · 2013 · 618 citations · Cited by this paper
  4. A Phase 1 Study Evaluating the Pharmacokinetics and Safety of Avacopan in Participants with End‐Stage Kidney Disease on Hemodialysis · 2026 · Related
  5. Clinical research for rare disease: Opportunities, challenges, and solutions · Robert C. Griggs · 2008 · 414 citations · Cited by this paper
  6. A Phase 1 Oral Mass Balance and Combined Intravenous [ 14 C] Microtracer Study to Characterize the Absorption, Metabolism, Excretion, and Pharmacokinetics of Antitumor Drug E7386 in Humans · 2026 · Related
  7. Developing and adopting safe and effective digital biomarkers to improve patient outcomes · Andrea Coravos · 2019 · 373 citations · Cited by this paper
  8. Population Pharmacokinetic Modeling of Intravenous Topiramate in Patients with Epilepsy or Migraine · 2026 · Related
  9. Prevalence of Duchenne and Becker Muscular Dystrophies in the United States · Paul A. Romitti · 2015 · 304 citations · Cited by this paper
  10. Volumetric Absorptive Microsampling During Spaceflight for Analysis of Acetaminophen Pharmacokinetics in Whole Blood · 2026 · Related
  11. Model‐Informed Drug Development: Current US Regulatory Practice and Future Considerations · Yaning Wang · 2019 · 227 citations · Cited by this paper
  12. Decoupling CAR‐T Expansion, Conversion, and Decay Timing: Physiologically Aligned Semi‐Mechanistic Modeling With Smooth Gating and a Cauchy Likelihood Residual Model · 2026 · Related
  13. Artificial intelligence in rare disease diagnosis and treatment · Magda Sara Wojtara · 2023 · 159 citations · Cited by this paper
  14. Hepatic CYP1A2 Activity in Adolescents with and without Obesity Assessed by the Urinary Paraxanthine‐to‐Caffeine Metabolic Ratio: A Pharmacokinetic Study · 2026 · Related
  15. Machine learning in pharmacometrics: Opportunities and challenges · Mason McComb · 2021 · 130 citations · Cited by this paper
  16. Clinical Qualification of Subcutaneous Injection Devices for Monoclonal Antibodies · 2025 · Related
  17. Special FDA designations for drug development: orphan, fast track, accelerated approval, priority review, and breakthrough therapy · Daniel Tobias Michaeli · 2023 · 126 citations · Cited by this paper
  18. The Potential of Digital Twins for Pediatric Rare Diseases · 2026 · Related
  19. Mitigating the risk of cytokine release syndrome in a Phase I trial of CD20/CD3 bispecific antibody mosunetuzumab in NHL: impact of translational system modeling · Iraj Hosseini · 2020 · 123 citations · Cited by this paper
  20. Subcutaneous Administration of Monoclonal Antibodies: Pharmacology, Delivery, Immunogenicity, and Learnings From Applications to Clinical Development · John D. Davis · 2023 · 109 citations · Cited by this paper
  21. A Tutorial and Use Case Example of the eXtreme Gradient Boosting ( XGBoost ) Artificial Intelligence Algorithm for Drug Development Applications · Matthew Wiens · 2025 · 106 citations · Cited by this paper
  22. Machine Learning in Drug Discovery and Development Part 1: A Primer · Alan Talevi · 2020 · 88 citations · Cited by this paper
  23. A Pharmacometric Approach to Substitute for a Conventional Dose-Finding Study in Rare Diseases: Example of Phase III Dose Selection for Emicizumab in Hemophilia A · Koichiro Yoneyama · 2017 · 81 citations · Cited by this paper
  24. A Bayesian adaptive design for clinical trials in rare diseases · S. Faye Williamson · 2016 · 77 citations · Cited by this paper
  25. Machine Learning in Modeling Disease Trajectory and Treatment Outcomes: An Emerging Enabler for Model‐Informed Precision Medicine · Nadia Terranova · 2023 · 76 citations · Cited by this paper
  26. A physiologically-based pharmacokinetic model to describe antisense oligonucleotide distribution after intrathecal administration · Michael I. Monine · 2021 · 64 citations · Cited by this paper
  27. Machine Learning: A New Approach for Dose Individualization · Jingjing Liu · 2023 · 63 citations · Cited by this paper
  28. Virtual Populations for Quantitative Systems Pharmacology Models · Yougan Cheng · 2022 · 58 citations · Cited by this paper
  29. Application of Bayesian methods to accelerate rare disease drug development: scopes and hurdles · Kelley M. Kidwell · 2022 · 48 citations · Cited by this paper
  30. How do you design randomised trials for smaller populations? A framework · Mahesh Parmar · 2016 · 47 citations · Cited by this paper
  31. Friedreich's ataxia—a rare multisystem disease · Kathrin Reetz · 2025 · 42 citations · Cited by this paper
  32. Comparison of intravenous and subcutaneous exposure supporting dose selection of subcutaneous belimumab systemic lupus erythematosus Phase 3 program · Shalini Wickramaratne Senarath Yapa · 2016 · 41 citations · Cited by this paper
  33. Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology · Chanchala D. Kaddi · 2018 · 37 citations · Cited by this paper
  34. Systematic Review of Device Parameters and Design of Studies Bridging Biologic-Device Combination Products Using Prefilled Syringes and Autoinjectors · Ping Hu · 2020 · 36 citations · Cited by this paper
  35. Development of Therapeutic Proteins for a New Subcutaneous Route of Administration After the Establishment of Intravenous Dosages: A Systematic Review · Zhenhua Xu · 2022 · 33 citations · Cited by this paper
  36. Artificial Intelligence: From Buzzword to Useful Tool in Clinical Pharmacology · Mohamed H. Shahin · 2023 · 33 citations · Cited by this paper
  37. Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy · the NatHis-MTM Study Group · 2021 · 32 citations · Cited by this paper
  38. Scientific rationale for a higher dose of nusinersen · Richard S. Finkel · 2022 · 32 citations · Cited by this paper
  39. A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases · Olivia Kim McManus · 2024 · 31 citations · Cited by this paper

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