Goals and objectives
Goals and objectives: to collect background information, identify gaps, develop tools and deliver them as clinical trial recommendations to sponsors and regulators.
Deliverables
- Work as a team to review the latest developments in clinical trial design, discuss innovative approaches, identify gaps and formulate opportunities to develop solutions and tools for ATMPs in HD.
- Establish a multi-stakeholder platform and communication forum to facilitate dialogue between clinical trial stakeholders, including patients, healthcare professionals and academia (workshops, ad-hoc meetings).
- Facilitate innovation in clinical trial methods by developing recommendations and guidelines on clinical trials for ATMPs.
Projects
Ongoing projects
- Work out the concepts on advanced therapies trial design challenges and opportunities.
- Prepare a position paper on challenges and opportunities in clinical development of ATMPs for HD to form an opinion and provide future recommendations.
Relevant publications
- Rosser et al. (2022) Translating cell therapies for neurodegenerative diseases: Huntington’s disease as a model disorder. Brain 145; 1584–1597
- Li Y, Izem R (2022) Novel clinical trial design and analytic methods to tackle challenges in therapeutic development in rare diseases. Annals of Translational Medicine, 10(18), 1034. https://atm.amegroups.org/article/view/91778/html
- Chow SC, Pong A, Chow SC (2024) Novel design and analysis for rare disease drug development. Mathematics, 12(5), 631. https://www.mdpi.com/2227-7390/12/5/631
- Garczarek U, Muehlemann N, Richard F, Yajnik P, Russek-Cohen E (2023) Bayesian strategies in rare diseases. Therapeutic Innovation & Regulatory Science, 57(3), 445-452. https://link.springer.com/article/10.1007/s43441-022-00485-y
- Kidwell KM, Roychoudhury S, Wendelberger B, Scott J, Moroz T, et al. (2022) Application of Bayesian methods to accelerate rare disease drug development: scopes and hurdles. Orphanet Journal of Rare Diseases, 17, 186. https://link.springer.com/article/10.1186/s13023-022-02342-5
- Parkin GM, Corey-Bloom J (2023) Considerations and advances in Huntington’s disease clinical trial design. In: Biomarkers for Huntington’s Disease: Improving Clinical Outcomes (editors: Thomas EA, Parkin GM), pp. 405-431. Springer Nature, Cham, Switzerland. https://link.springer.com/chapter/10.1007/978-3-031-32815-2_17
- Drew CJG, Busse M. Considerations for clinical trial design and conduct in the evaluation of novel advanced therapeutics in neurodegenerative disease. Int Rev Neurobiol. 2022;166:235-279. doi: 10.1016/bs.irn.2022.09.006. Epub 2022 Oct 22. PMID: 36424094
- Hobbs N et al (2024) Neuroimaging to Facilitate Clinical Trials in Huntington’s Disease: Current Opinion from the EHDN Imaging Working Group. Journal of Huntington’s Disease https://pmc.ncbi.nlm.nih.gov/articles/PMC11307036/
- Chu, X., Chu, D. K., Ren, J., Brignardello-Petersen, R., Yang, K., Guyatt, G. H., & Lehana, T. (2025). Completeness of reporting of simulation studies on responder analysis methods and simulation performance: a methodological survey. BMJ open, 15(5), e096107.
- Dickson, S. P., Haaland, B., Mallinckrodt, C. H., Dubois, B., O’Keefe, P., Morgan, M., … & Hendrix, S. (2024). “Time saved” calculations to improve decision-making in progressive disease studies. The Journal of Prevention of Alzheimer’s Disease, 11(3), 529-536.
- Hamilton, J. L., Mills, J. A., Stebbins, G. T., Long, J. D., Fuller, R. L., Sathe, S., … & Sampaio, C. (2023). Defining clinical meaningfulness in Huntington’s disease. Movement Disorders, 38(6), 1036-1043.
- Liu, B., Zhou, X., & Li, F. (2025). Sample size and power calculation for propensity score analysis of observational studies. arXiv preprint arXiv:2501.11181.
- Long, J. D., Mills, J. A., Leavitt, B. R., Durr, A., Roos, R. A., Stout, J. C., … & Tabrizi, S. J. (2017). Survival end points for Huntington disease trials prior to a motor diagnosis. JAMA neurology, 74(11), 1352-1360.
- Prasad, V., & Makary, M. A. (2025). FDA’s New Plausible Mechanism Pathway. New England Journal of Medicine.
- FDA (2025). FDA approves 1st drug for thymidine kinase 2 deficiency, a very rare mitochondrial disease. FDA approves 1st drug for thymidine kinase 2 deficiency, a very rare mitochondrial disease | FDA
Contact
Lead Facilitator(s)
Amsterdam, The Netherlands
Den Haag, The Netherlands
last update 19 December 2025
