Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

Experimental and computational approaches to estimate solubility and permeability in drug discovery and development settings 1PII of original article: S0169-409X(96)00423-1. The article was originally published in Advanced Drug Delivery Reviews 23 (1997) 3–25. 1

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The impact of rarity in NICE’s health technology appraisals

Clarke, S. L., Ellis, M. L., & Brownrigg, J. R. W. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-021-01845-x · Cited by 22

Hereditary Spastic Paraplegia and Future Therapeutic Directions: Beneficial Effects of Small Compounds Acting on Cellular Stress

Gumeni, S., Vantaggiato, C., Montopoli, M., & Orso, G. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.660714 · Cited by 21

Current landscape of gene‐editing technology in biomedicine: Applications, advantages, challenges, and perspectives

Zhou, W., Yang, J., Zhang, Y., Hu, X., & Wang, W. (2022) · MedComm · doi:10.1002/mco2.155 · Cited by 23

The future of rare disease drug development: the rare disease cures accelerator data analytics platform (RDCA-DAP)

Barrett, J. S., Bétourné, A., Walls, R., Lasater, K., Russell, S., Borens, A., Rohatagi, S., & Roddy, W. (2023) · Journal of Pharmacokinetics and Pharmacodynamics · doi:10.1007/s10928-023-09859-7 · Cited by 22

In-situ-formed immunotherapeutic and hemostatic dual drug-loaded nanohydrogel for preventing postoperative recurrence of hepatocellular carcinoma

Ke, J., Liu, Y., Liu, F., Cai, H., Liu, F., Zhang, Z., Wang, N., Shao, B., Wang, Z., Han, M., et al. (2024) · Journal of Controlled Release · doi:10.1016/j.jconrel.2024.06.030 · Cited by 21

Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome)

Kong, W., Yao, Y., Zhang, J., Lu, C., Ding, Y., & Meng, Y. (2020) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2020.173562 · Cited by 24

Overcoming Cytosolic Delivery Barriers of Proteins Using Denatured Protein-Conjugated Mesoporous Silica Nanoparticles

Dembélé, J., Liao, J.-H., Liu, T., & Chen, Y. (2022) · ACS Applied Materials & Interfaces · doi:10.1021/acsami.2c17544 · Cited by 21

Plasma Progerin in Patients With Hutchinson-Gilford Progeria Syndrome: Immunoassay Development and Clinical Evaluation

Gordon, L. B., Norris, W. E., Hamren, S., Goodson, R. J., LeClair, J., Massaro, J. M., Lyass, A., D’Agostino, R. B., Tuminelli, K., Kieran, M. W., et al. (2023) · Circulation · doi:10.1161/circulationaha.122.060002 · Cited by 21

Chronological Analysis of First-in-Class Drugs Approved from 2011 to 2022: Their Technological Trend and Origin

Okuyama, R. (2023) · Pharmaceutics · doi:10.3390/pharmaceutics15071794 · Cited by 21

AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation

Guthrie, J., Bal, S. K., Lombardo, S. D., Müller, F., Sin, C., Hütter, C. V. R., Menche, J., & Boztuǧ, K. (2023) · Science Advances · doi:10.1126/sciadv.adg6375 · Cited by 20

The Multi-Omic Approach to Newborn Screening: Opportunities and Challenges

Ashenden, A. J., Chowdhury, A., Anastasi, L. T., Lam, K., Rozek, T., Ranieri, E., Siu, C. W.-K., King, J. R., Mas, E., & Kassahn, K. S. (2024) · International Journal of Neonatal Screening · doi:10.3390/ijns10030042 · Cited by 20

Orphan Drugs, Compounded Medication and Pharmaceutical Commons

Hendrickx, K., & Dooms, M. M. (2021) · Frontiers in Pharmacology · doi:10.3389/fphar.2021.738458 · Cited by 20

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

Kim, M., Yum, M., Seo, G. H., Lee, Y., Jang, H. N., Ko, T., & Lee, B. H. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9113724 · Cited by 19

Orphan drugs’ clinical uncertainty and prices: Addressing allocative and technical inefficiencies in orphan drug reimbursement

Eichler, H., Kossmeier, M., Zeitlinger, M. A., & Schwarzer‐Daum, B. (2023) · Frontiers in Pharmacology · doi:10.3389/fphar.2023.1074512 · Cited by 19

Off-Patent drug repositioning

Avram, S., Curpan, R., Halip, L., Bora, A., & Oprea, T. I. (2020) · Journal of Chemical Information and Modeling · doi:10.1021/acs.jcim.0c00826 · Cited by 18

The use of pharmacological chaperones in rare diseases caused by reduced protein stability

Gil‐Martínez, J., Bernardo‐Seisdedos, G., Mato, J. M., & Millet, Ó. (2022) · PROTEOMICS · doi:10.1002/pmic.202200222 · Cited by 18

The use of adenoviral vectors in gene therapy and vaccine approaches

Araújo, N. M., Rubio, I. G. S., Toneto, N. P. A., Morale, M. G., & Tamura, R. E. (2022) · Genetics and Molecular Biology · doi:10.1590/1678-4685-gmb-2022-0079 · Cited by 20

How to customize common data models for rare diseases: an OMOP-based implementation and lessons learned

Ahmadi, N., Zoch, M., Guengoeze, O., Facchinello, C., Mondorf, A. W., Stratmann, K., Musleh, K., Erasmus, H., Tchertov, J., Gebler, R., et al. (2024) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03312-9 · Cited by 18

Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases

Post, A. E. M., Klockgether, T., Landwehrmeyer, G. B., Pandolfo, M., Arnesen, A., Reinhard, C., & Graeßner, H. (2021) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01641-z · Cited by 18

Determining the value of genomics in healthcare

Goranitis, I., Hayeems, R. Z., Smith, H. S., Buchanan, J. P., Weymann, D., Regier, D. A., Mackley, M. P., Scott, R. H., Hill, S. L., Chung, B. H., et al. (2025) · Nature Medicine · doi:10.1038/s41591-025-04061-3 · Cited by 17

Long way to go: Progress of orphan drug accessibility in China from 2017 to 2022

Liu, J., Yu, Y., Zhong, M., Ma, C., & Shao, R. (2023) · Frontiers in Pharmacology · doi:10.3389/fphar.2023.1138996 · Cited by 17

Development of orphan drugs for rare diseases

Yoo, H. (2023) · Korean Journal of Pediatrics · doi:10.3345/cep.2023.00535 · Cited by 38

Research advances in treatment methods and drug development for rare diseases

Han, Q., Fu, H., Chu, X., Wen, R., Zhang, M., You, T., Fu, P., Qin, J. G., & Cui, T. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.971541 · Cited by 28

Targeted Therapeutics for Rare Disorders

Keeling, K. M., Leier, A., Bedwell, D. M., Chen, A. T., Kesterson, R. A., Marquez‐Lago, T. T., Müller, U. F., Zhou, J., Popplewell, L. J., & WALLIS, D. E. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-824010-6.00009-5 · Cited by 1

Protein replacement therapies for rare diseases: a breeze for regulatory approval?

Gorzelany, J. A., & de Souza, M. P. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3005007 · Cited by 33

Evolution of therapy monogenic orphan diseases and regulatory aspects of orphan medicinal products development

Poteryaev, D. A., & Khamitov, R. (2026) · Biological Products. Prevention, Diagnosis, Treatment · doi:10.30895/2221-996x-2026-26-2-127-143