Ann Clin Case Rep | Volume 6, Issue 1 | Case Report | Open Access

Statistical Considerations for Gene Therapy Rare Disease Clinical Trials

Chenxuan Zang1*, Wei Zhang2, Shein-Chung Chow1

1Department of Biostatistics and Bioinformatics, Duke University School of Medicine, USA 2Protech Pharma Services Corporation, USA

*Correspondance to: Chenxuan Zang 

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On December 18, 2017, the FDA approved Luxturna (voretigene neparvovec-rzyl), a new gene therapy product developed for treating patients born with a kind of retinal disorder due to biallelic RPE65 gene mutation. Luxturna is a major medical advance since it is the first gene therapy to be granted approval by FDA that targets on a single gene. Approval of Luxturna may provide new prospects for curing various intractable and life-threatening rare diseases. As indicated by the former FDA Commissioner Scott Gottlieb, FDA can see a bright future of gene therapy, through which many dreaded, usually terminal medical problems may be solved, and now it is a critical time for the development of this novel form of treatment. As a result, FDA has been devoted to establishing an integrated, appropriate policy framework to encourage and administrate gene therapy research. FDA will also gradually promulgate a series of disease-specific guidance papers to demonstrate the clinical development and detailed approval process of investigational gene therapy products to discuss some critical and creative thinking that might be helpful to evaluate the efficacy of GT products and accelerate approval process. In this article, FDA guidance on clinical trial design issues for gene therapy development of rare diseases and some current innovative statistical considerations are reviewed. In addition, a case study of Luxturna, the first approved gene therapy for a rare disease is discussed.


Rare disease drug development; Demonstrating effectiveness or not in effectiveness; Real-world evidence; Therapeutic index


Zang C, Zhang W, Chow SC. Statistical Considerations for Gene Therapy Rare Disease Clinical Trials. Ann Clin Case Rep. 2021; 6: 1925..

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