Section 6 of 6
References
300 sources
- Adamou (2026) (opens in a new tab)
- Adler et al. (2019) (opens in a new tab)
- Al-Khatib et al. (2018) (opens in a new tab)
- Alcalai et al. (2021) (opens in a new tab)
- Alexion Soliris prescribing information (2026) (opens in a new tab)
- Apellis Empaveli prescribing information (2025) (opens in a new tab)
- Arad et al. (2005) (opens in a new tab)
- Arad et al. (2026) (opens in a new tab)
- Arbelo et al. (2023) (opens in a new tab)
- Argirò and Olivotto (2026) (opens in a new tab)
- Argiro et al. (2024) (opens in a new tab)
- Baskar et al. (2018) (opens in a new tab)
- Beinfeld et al. (2023) (opens in a new tab)
- bluebird bio Form 8-K (2022) (opens in a new tab)
- bluebird bio Form 8-K (2023) (opens in a new tab)
- bluebird bio ZYNTEGLO launch press release (2022) (opens in a new tab)
- Boespflug-Tanguy et al. (2026) (opens in a new tab)
- Boslough et al. (2026) (opens in a new tab)
- Bottillo et al. (2016) (opens in a new tab)
- Boucek et al. (2011) (opens in a new tab)
- Boucek et al. (2011) (opens in a new tab)
- Brambatti et al. (2019) (opens in a new tab)
- Briasoulis et al. (2018) (opens in a new tab)
- Brooks et al. (2020) (opens in a new tab)
- Bui et al. (2019) (opens in a new tab)
- Bui et al. (2021) (opens in a new tab)
- Byrne et al. (2025) (opens in a new tab)
- California Institute for Regenerative Medicine grant TRAN1-15230 (opens in a new tab)
- Catchpool et al. (2019) (opens in a new tab)
- CDC ICD-10 Coordination and Maintenance Committee (2022) (opens in a new tab)
- CDC National Center for Health Statistics ICD-10-CM (2026) (opens in a new tab)
- Cenacchi et al. (2020) (opens in a new tab)
- Chand et al. (2021) (opens in a new tab)
- Charron et al. (2004) (opens in a new tab)
- Chaudhary and Singh (2025) (opens in a new tab)
- Chen et al. (2012) (opens in a new tab)
- Chen et al. (2022a) (opens in a new tab)
- Chen et al. (2022b) (opens in a new tab)
- Cheng and Fang (2012b) (opens in a new tab)
- Cheng et al. (2012a) (opens in a new tab)
- Chhabra et al. (2024) (opens in a new tab)
- Chi et al. (2019) (opens in a new tab)
- ClinGen Actionability Working Group Danon disease summary report (2023) (opens in a new tab)
- ClinicalTrials.gov NCT03882437 (opens in a new tab)
- ClinicalTrials.gov NCT05548855 (opens in a new tab)
- ClinicalTrials.gov NCT06092034 (opens in a new tab)
- ClinicalTrials.gov NCT06214507 (opens in a new tab)
- CMS Cell and Gene Therapy Access Model (opens in a new tab)
- CMS Hospital Readmissions Reduction Program (opens in a new tab)
- CMS Medicare 2026 Part C and D Star Ratings Technical Notes (2025) (opens in a new tab)
- CMS Quality ID 005 measure specification (2025) (opens in a new tab)
- CMS Quality ID 008 measure specification (2025) (opens in a new tab)
- Colvin et al. (2025) (opens in a new tab)
- CSL Behring HEMGENIX prescribing information (2026) (opens in a new tab)
- CTIS.eu 2023-506480-34-00 (opens in a new tab)
- D'souza et al. (2014) (opens in a new tab)
- Danon Foundation (opens in a new tab)
- Darden et al. (2021) (opens in a new tab)
- Day et al. (2021) (opens in a new tab)
- Del Favero et al. (2020) (opens in a new tab)
- Dellefave-Castillo et al. (2022) (opens in a new tab)
- Demirdas et al. (2019) (opens in a new tab)
- Di Nora et al. (2020) (opens in a new tab)
- Dvornikov et al. (2019) (opens in a new tab)
- Echaniz-Laguna et al. (2006) (opens in a new tab)
- EMA list of medicines in the PRIME scheme (2026) (opens in a new tab)
- EMA orphan designation EU/3/23/2826 (2023) (opens in a new tab)
- EMA orphan designation EU/3/25/3062 (2025) (opens in a new tab)
- EMA paediatric investigation plan decision P/0004/2025 (2025) (opens in a new tab)
- EMA paediatric investigation plan EMEA-003639-PIP01-24 (2025) (opens in a new tab)
- EMA scientific recommendations on classification of advanced therapy medicinal products (2026) (opens in a new tab)
- Emfietzoglou et al. (2026) (opens in a new tab)
- Endo et al. (2015) (opens in a new tab)
- EU CTIS 2023-506480-34-00 (opens in a new tab)
- EU CTIS 2023-506480-34-00 (opens in a new tab)
- Fanin et al. (2006) (opens in a new tab)
- FDA Cellular, Tissue, and Gene Therapies Advisory Committee briefing document (2021) (opens in a new tab)
- FDA Elevidys safety communication (2025) (opens in a new tab)
- FDA expedited programs for regenerative medicine therapies guidance (2019) (opens in a new tab)
- FDA long term follow-up after gene therapy guidance (2020) (opens in a new tab)
- FDA Orphan Drug Designations and Approvals (2019) (opens in a new tab)
- FDA rare pediatric disease priority review voucher program (2026) (opens in a new tab)
- Fernández et al. (2021) (opens in a new tab)
- Florida Agency for Health Care Administration Independent Laboratory Fee Schedule (2026) (opens in a new tab)
- Flotte (2026) (opens in a new tab)
- Fu et al. (2016) (opens in a new tab)
- Gandaeva et al. (2023) (opens in a new tab)
- Genentech Rituxan prescribing information (2021) (opens in a new tab)
- Godown et al. (2018a) (opens in a new tab)
- Godown et al. (2018b) (opens in a new tab)
- Greenberg et al. (2021) (opens in a new tab)
- Greenberg et al. (2022) (opens in a new tab)
- Greenberg et al. (2025) (opens in a new tab)
- Grisorio et al. (2024) (opens in a new tab)
- Guillou et al. (2022) (opens in a new tab)
- Gunes et al. (2025) (opens in a new tab)
- Guo et al. (2019) (opens in a new tab)
- Gurka et al. (2020) (opens in a new tab)
- Hashem et al. (2015) (opens in a new tab)
- Hashem et al. (2017) (opens in a new tab)
- Hashida et al. (2015) (opens in a new tab)
- Health Research Authority research summary (2024) (opens in a new tab)
- Hedberg Oldfors et al. (2015) (opens in a new tab)
- Heidenreich et al. (2020) (opens in a new tab)
- Heidenreich et al. (2022) (opens in a new tab)
- Hershberger et al. (2018) (opens in a new tab)
- Hinderer et al. (2018) (opens in a new tab)
- Hong et al. (2022) (opens in a new tab)
- Hong et al. (2023a) (opens in a new tab)
- Hong et al. (2023a) (opens in a new tab)
- Hong et al. (2023b) (opens in a new tab)
- Hong et al. (2025) (opens in a new tab)
- Horizon Pharma Rayos prescribing information (2012) (opens in a new tab)
- HRSA OPTN transplant program performance monitoring (opens in a new tab)
- Hummel et al. (2020) (opens in a new tab)
- Hypertrophic Cardiomyopathy Association (2026) (opens in a new tab)
- ICD10Data.com (2026) (opens in a new tab)
- ICER single and short-term therapies methods (2022) (opens in a new tab)
- ICER Zolgensma approval statement (2019) (opens in a new tab)
- Ingles et al. (2012) (opens in a new tab)
- Ingles et al. (2019) (opens in a new tab)
- Inoue et al. (2024) (opens in a new tab)
- Invitae Cardiomyopathy Comprehensive Panel test catalog (opens in a new tab)
- Invitae Danon disease sponsored testing program (opens in a new tab)
- Jackson et al. (2018) (opens in a new tab)
- Jain et al. (2021) (opens in a new tab)
- Jeong et al. (2025) (opens in a new tab)
- Jhaveri et al. (2019) (opens in a new tab)
- Kartal Allen (2025) (opens in a new tab)
- Keravala et al. (2019) (opens in a new tab)
- Khedro et al. (2025) (opens in a new tab)
- Kitahara et al. (2017) (opens in a new tab)
- Kittleson et al. (2024) (opens in a new tab)
- Konrad et al. (2017) (opens in a new tab)
- Kousal et al. (2021) (opens in a new tab)
- Kuroda et al. (2019) (opens in a new tab)
- Laforet (2025) (opens in a new tab)
- Law et al. (2012) (opens in a new tab)
- Lee et al. (2026) (opens in a new tab)
- Lek et al. (2023) (opens in a new tab)
- Limongelli et al. (2022) (opens in a new tab)
- Lipshultz et al. (2019) (opens in a new tab)
- Liu et al. (2017) (opens in a new tab)
- Liu et al. (2018) (opens in a new tab)
- Liu et al. (2019) (opens in a new tab)
- Liu et al. (2026) (opens in a new tab)
- López-Sainz et al. (2019) (opens in a new tab)
- Lotan et al. (2020) (opens in a new tab)
- Lotan et al. (2020) (opens in a new tab)
- Ma et al. (2018) (opens in a new tab)
- Ma et al. (2019) (opens in a new tab)
- Mahle et al. (2008) (opens in a new tab)
- Majer et al. (2014) (opens in a new tab)
- Majer et al. (2018) (opens in a new tab)
- Managed Healthcare Executive (2025) (opens in a new tab)
- Managed Healthcare Executive (2026) (opens in a new tab)
- Manso et al. (2020) (opens in a new tab)
- Margolin et al. (2022) (opens in a new tab)
- Maron et al. (2009) (opens in a new tab)
- Maron et al. (2025) (opens in a new tab)
- Marras et al. (2008) (opens in a new tab)
- Maurizi et al. (2025) (opens in a new tab)
- Maurizi et al. (2026a) (opens in a new tab)
- Maurizi et al. (2026b) (opens in a new tab)
- McNally and Spencer (2025) (opens in a new tab)
- MedlinePlus Genetics (2024) (opens in a new tab)
- Mehra et al. (2016) (opens in a new tab)
- Miani et al. (2012) (opens in a new tab)
- Milliman (2025) (opens in a new tab)
- Musunuru et al. (2020) (opens in a new tab)
- Naddaf (2022) (opens in a new tab)
- Nandi et al. (2016) (opens in a new tab)
- NCQA CRE measure page (opens in a new tab)
- NCQA PCR measure page (opens in a new tab)
- Nishino et al. (2000) (opens in a new tab)
- Novartis Zolgensma access programs press release (2019) (opens in a new tab)
- Novartis ZOLGENSMA prescribing information (2026) (opens in a new tab)
- Odouard et al. (2024) (opens in a new tab)
- Oktay et al. (2023) (opens in a new tab)
- Olivotto et al. (2008) (opens in a new tab)
- OMIM 300257 (opens in a new tab)
- Ommen et al. (2024) (opens in a new tab)
- Orbach et al. (2026) (opens in a new tab)
- Orchard Therapeutics (2024) (opens in a new tab)
- Oren et al. (2019) (opens in a new tab)
- Orphanet (2024) (opens in a new tab)
- Osenenko et al. (2022) (opens in a new tab)
- Pagliarulo (2025) (opens in a new tab)
- Papillon Therapeutics (2024) (opens in a new tab)
- Parajuli et al. (2026) (opens in a new tab)
- Patel et al. (2018) (opens in a new tab)
- Pearson et al. (2019) (opens in a new tab)
- Pelc et al. (2026) (opens in a new tab)
- Peled et al. (2024) (opens in a new tab)
- Pfizer Rapamune prescribing information (2019) (opens in a new tab)
- Philippidis (2025) (opens in a new tab)
- Poignant et al. (2017) (opens in a new tab)
- Power et al. (2024) (opens in a new tab)
- Prall et al. (2006) (opens in a new tab)
- Ribeiro et al. (2026) (opens in a new tab)
- Richards et al. (2026) (opens in a new tab)
- Rigolli et al. (2020) (opens in a new tab)
- Rigolli et al. (2021) (opens in a new tab)
- Rocket Pharmaceuticals and REGENXBIO license announcement (2018) (opens in a new tab)
- Rocket Pharmaceuticals clinical hold lift announcement (2021) (opens in a new tab)
- Rocket Pharmaceuticals clinical hold lift announcement (2025) (opens in a new tab)
- Rocket Pharmaceuticals clinical safety update announcement (2026) (opens in a new tab)
- Rocket Pharmaceuticals corporate presentation (2023) (opens in a new tab)
- Rocket Pharmaceuticals credit facility announcement (2026) (opens in a new tab)
- Rocket Pharmaceuticals Danon disease clinical trials page (opens in a new tab)
- Rocket Pharmaceuticals Danon disease program update presentation (2023) (opens in a new tab)
- Rocket Pharmaceuticals Danon disease program update presentation (2026) (opens in a new tab)
- Rocket Pharmaceuticals end-of-phase 1 meeting announcement (2022) (opens in a new tab)
- Rocket Pharmaceuticals enrollment completion announcement (2024) (opens in a new tab)
- Rocket Pharmaceuticals expanded access policy (opens in a new tab)
- Rocket Pharmaceuticals FDA alignment announcement (2026) (opens in a new tab)
- Rocket Pharmaceuticals first quarter 2021 results announcement (2021) (opens in a new tab)
- Rocket Pharmaceuticals first quarter 2026 results announcement (2026) (opens in a new tab)
- Rocket Pharmaceuticals Form 10-K (2020) (opens in a new tab)
- Rocket Pharmaceuticals Form 10-K (2023) (opens in a new tab)
- Rocket Pharmaceuticals Form 10-K (2025) (opens in a new tab)
- Rocket Pharmaceuticals Form 10-K (2026) (opens in a new tab)
- Rocket Pharmaceuticals Form 10-Q (2021) (opens in a new tab)
- Rocket Pharmaceuticals Form 10-Q (2026) (opens in a new tab)
- Rocket Pharmaceuticals Form 8-K (2020) (opens in a new tab)
- Rocket Pharmaceuticals Form 8-K (2022) (opens in a new tab)
- Rocket Pharmaceuticals Form 8-K (2024) (opens in a new tab)
- Rocket Pharmaceuticals Form 8-K (2026) (opens in a new tab)
- Rocket Pharmaceuticals IND clearance announcement (2019) (opens in a new tab)
- Rocket Pharmaceuticals investor presentation (2024) (opens in a new tab)
- Rocket Pharmaceuticals investor webinar announcement (2026) (opens in a new tab)
- Rocket Pharmaceuticals LAMPLIGHT Studies website (opens in a new tab)
- Rocket Pharmaceuticals phase 1 interim results presentation (2020) (opens in a new tab)
- Rocket Pharmaceuticals phase 1 update announcement (2021) (opens in a new tab)
- Rocket Pharmaceuticals phase 1 update presentation (2021) (opens in a new tab)
- Rocket Pharmaceuticals phase 1 update presentation (2022) (opens in a new tab)
- Rocket Pharmaceuticals phase 2 trial update announcement (2025) (opens in a new tab)
- Rocket Pharmaceuticals pivotal trial design announcement (2023) (opens in a new tab)
- Rocket Pharmaceuticals preclinical data announcement (2019) (opens in a new tab)
- Rocket Pharmaceuticals PRIME designation announcement (2023) (opens in a new tab)
- Rocket Pharmaceuticals reorganization announcement (2025) (opens in a new tab)
- Rocket Pharmaceuticals RMAT designation announcement (2023) (opens in a new tab)
- Rocket Pharmaceuticals second quarter 2021 results announcement (2021) (opens in a new tab)
- Rocket Pharmaceuticals second quarter 2026 results announcement (2026) (opens in a new tab)
- Rocket Pharmaceuticals third quarter 2024 results announcement (2024) (opens in a new tab)
- Rocket Pharmaceuticals third quarter 2025 results announcement (2025) (opens in a new tab)
- Rossano et al. (2012) (opens in a new tab)
- Rossano et al. (2022a) (opens in a new tab)
- Rossano et al. (2022b) (opens in a new tab)
- Rossano et al. (2023a) (opens in a new tab)
- Rossano et al. (2023b) (opens in a new tab)
- Rowland et al. (2016) (opens in a new tab)
- Rubin et al. (2025) (opens in a new tab)
- Salabarria et al. (2024) (opens in a new tab)
- Salisbury and Meredith (2019) (opens in a new tab)
- Samad et al. (2017) (opens in a new tab)
- Sarepta Therapeutics ELEVIDYS approval presentation (2023) (opens in a new tab)
- Sarepta Therapeutics ELEVIDYS prescribing information (2026) (opens in a new tab)
- Shah et al. (2016) (opens in a new tab)
- Shah et al. (2021) (opens in a new tab)
- Shieh et al. (2026) (opens in a new tab)
- Sikora et al. (2015) (opens in a new tab)
- Silver et al. (2026a) (opens in a new tab)
- Silver et al. (2026b) (opens in a new tab)
- Spark Therapeutics Form 8-K (2018) (opens in a new tab)
- Spirito et al. (2000) (opens in a new tab)
- Stevens-Lapsley et al. (2010) (opens in a new tab)
- Stypmann et al. (2006) (opens in a new tab)
- Sugie and Nishino (2024) (opens in a new tab)
- Sugie et al. (2002) (opens in a new tab)
- Sugie et al. (2005) (opens in a new tab)
- Sugie et al. (2018) (opens in a new tab)
- Takehara et al. (2025) (opens in a new tab)
- Tanaka et al. (2000) (opens in a new tab)
- Taylor and Adler (2024) (opens in a new tab)
- Thakur et al. (2018) (opens in a new tab)
- Thompson et al. (2016) (opens in a new tab)
- Tice et al. (2023) (opens in a new tab)
- Tsuda et al. (2017) (opens in a new tab)
- Turner et al. (2025) (opens in a new tab)
- Ultragenyx FAYUVI prescribing information (2026) (opens in a new tab)
- UnitedHealthcare Genetic Testing for Cardiac Disease medical policy (2026) (opens in a new tab)
- Urbich et al. (2020) (opens in a new tab)
- Van Der Starre et al. (2013) (opens in a new tab)
- Venturiello et al. (2024) (opens in a new tab)
- Vertex Pharmaceuticals Form 8-K (2023) (opens in a new tab)
- Vilalta (2023) (opens in a new tab)
- Vrellaku et al. (2024) (opens in a new tab)
- Wei et al. (2021) (opens in a new tab)
- Wilde et al. (2022) (opens in a new tab)
- Wittlieb-Weber et al. (2015) (opens in a new tab)
- Yadin et al. (2022) (opens in a new tab)
- Yadin et al. (2023) (opens in a new tab)
- Yang et al. (2005) (opens in a new tab)
- Yardeni et al. (2017) (opens in a new tab)
- Zaki et al. (2013) (opens in a new tab)
- Zannad et al. (2010) (opens in a new tab)
- Zeppenfeld et al. (2022) (opens in a new tab)
- Zhai et al. (2023) (opens in a new tab)
- Zhang et al. (2025) (opens in a new tab)