REFERENCES
1. Boslough M, Massera D, Taylor M. How ultra-rare is Danon disease? An estimate of prevalence based on multiple data sources. Eur J Heart Fail. 2026;28:xuag193.282.
2. Yu K, Peng B, Zhao D, Wang Y. Danon disease: two case reports and literature review. Medicine. 2026;105:e46993.
3. Cetin H, Wöhrer A, Rittelmeyer I, et al. The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA. Clin Genet. 2016;90:366-71.
4. Sugie K, Komaki H, Eura N, et al. A nationwide survey on Danon disease in Japan. Int J Mol Sci. 2018;19:3507.
5. Del Favero G, Bonifacio A, Rowland TJ, et al. Danon disease-associated LAMP-2 deficiency drives metabolic signature indicative of mitochondrial aging and fibrosis in cardiac tissue and hiPSC-derived cardiomyocytes. J Clin Med. 2020;9:2457.
6. Nishino I, Fu J, Tanji K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. 2000;406:906-10.
7. Hashem SI, Murphy AN, Divakaruni AS, et al. Impaired mitophagy facilitates mitochondrial damage in Danon disease. J Mol Cell Cardiol. 2017;108:86-94.
8. Hong KN, Eshraghian EA, Arad M, et al. International consensus on differential diagnosis and management of patients with Danon disease: JACC state-of-the-art review. J Am Coll Cardiol. 2023;82:1628-47.
9. Manso AM, Hashem SI, Nelson BC, et al. Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease. Sci Transl Med. 2020;12:eaax1744.
10. Greenberg B, Taylor M, Adler E, et al. Phase 1 study of AAV9.LAMP2B gene therapy in danon disease. N Engl J Med. 2025;392:972-83.
11. Johnson V. Danon disease gene therapy yields sustained clinical benefit. CGTlive. Available from: https://www.cgtlive.com/view/danon-disease-gene-therapy-yields-sustained-clinical-benefit [Last accessed on 22 Sep 2026].
12. Rocket pharmaceuticals provides update on phase 2 clinical trial of RP-A501 for Danon disease. Rocket Pharmaceuticals, Inc. Available from: https://ir.rocketpharma.com/news-releases/news-release-details/rocket-pharmaceuticals-provides-update-phase-2-clinical-trial-rp/ [Last accessed on 22 Sep 2026].
13. Parajuli S, Gallagher T, Flotte TR. Immune Toxicities in AAV Gene Therapy: Overview for Clinicians. Int J Mol Sci. 2026;27:3196.
14. Rocket pharmaceuticals announces positive clinical safety update from initial three patients treated with RP-A501 Under modified phase 2 protocol for Danon disease. Available from: https://ir.rocketpharma.com/news-releases/news-release-details/rocket-pharmaceuticals-announces-positive-clinical-safety-update [Last accessed on 22 Sep 2026].
15. Salabarria SM, Corti M, Coleman KE, et al. Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies. J Clin Invest. 2024:134.
16. Rocket pharmaceuticals announces FDA has lifted the clinical hold on the pivotal phase 2 trial of RP-A501 for the treatment of danon disease. Rocket Pharmaceuticals, Inc. Available from: https://ir.rocketpharma.com/news-releases/news-release-details/rocket-pharmaceuticals-announces-fda-has-lifted-clinical-hold/ [Last accessed on 22 Sep 2026].
17. Rocket pharmaceuticals reports second quarter 2026 financial results and highlights recent progress. Rocket Pharmaceuticals, Inc. Available from: https://ir.rocketpharma.com/news-releases/news-release-details/rocket-pharmaceuticals-reports-second-quarter-2026-financial/ [Last accessed on 22 Sep 2026].
18. Kropf E, Markusic DM, Majowicz A, Mingozzi F, Kuranda K. Complement system response to adeno-associated virus vector gene therapy. Hum Gene Ther. 2024;35:425-38.
19. Maurizi N, Ammirati E, Silver E, et al. Incidence, timing, and clinical significance of adverse immune events after gene replacement therapy: a systematic review and meta-analysis. Mol Ther. 2026;34:1340-51.
