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The Potential to Leverage Real-World Data for Pediatric Clinical Trials: A Proof-of-Concept Study

Jens Declerck, Joanne Lee, Anando Sen, Avril Palmeri, Rianne Oostenbrink, Viviana Giannuzzi, Simon Woodworth, Salma Malik, Fenna Mahler, Beate Aurich, Rebecca Leary, Dipak Kalra, Volker Straub

J Med Internet Res 2025;27:e72573

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Tracking Public Interest in Rare Diseases and Eosinophilic Disorders in Germany: Web Search Analysis

Michael Hindelang, Sebastian Sitaru, Alexander Zink

JMIR Infodemiology 2025;5:e69040

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Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis

Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa

JMIR Res Protoc 2024;13:e56649

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Early Diagnosis of Hereditary Angioedema in Japan Based on a US Medical Dataset: Algorithm Development and Validation

Kouhei Yamashita, Yuji Nomoto, Tomoya Hirose, Akira Yutani, Akira Okada, Nayu Watanabe, Ken Suzuki, Munenori Senzaki, Tomohiro Kuroda

JMIR Med Inform 2024;12:e59858

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Retrieval-Based Diagnostic Decision Support: Mixed Methods Study

Tassallah Abdullahi, Laura Mercurio, Ritambhara Singh, Carsten Eickhoff

JMIR Med Inform 2024;12:e50209

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Needs and Experiences With Health Care Providers of Adult Rare Disease Patients and Caregivers of People With Rare Diseases: Protocol for a Qualitative Study

Tina Černe, Eva Turk, Spela Mirosevic, Danica Rotar Pavlič

JMIR Res Protoc 2024;13:e53362

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Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey

Maurizio Macaluso, Marc E Rothenberg, Thomas Ferkol, Pierce Kuhnell, Henry J Kaminski, David W Kimberlin, Michael Benatar, Mirna Chehade, The Principal Investigators of the Rare Diseases Clinical Research Network – Cycle 4

JMIR Public Health Surveill 2024;10:e48430

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Learning to Make Rare and Complex Diagnoses With Generative AI Assistance: Qualitative Study of Popular Large Language Models

Tassallah Abdullahi, Ritambhara Singh, Carsten Eickhoff

JMIR Med Educ 2024;10:e51391

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An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach

Ariane Quintal, Isabelle Carreau, Annie-Danielle Grenier, Caroline Hébert, Christine Yergeau, Yves Berthiaume, Eric Racine

J Particip Med 2023;15:e46607

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Congenital Telangiectatic Erythema: Scoping Review

Magda Sara Wojtara, Jayne Kang, Mohammed Zaman

JMIR Dermatol 2023;6:e48413

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