Gene therapy for ultrarare diseases: a geneticist’s perspective

Harari S, Humbert M. Ultra-rare disease: an European perspective. Eur Respir Rev. 2020;29:200195.

Article  PubMed  PubMed Central  Google Scholar 

Crooke ST. Meeting the needs of patients with ultrarare diseases. Trends Mol Med. 2022;28:87–96.

Article  PubMed  Google Scholar 

Kumar SR, Markusic DM, Biswas M, High KA, Herzog RW. Clinical development of gene therapy: results and lessons from recent successes. Mol Ther Methods Clin Dev. 2016;3:16034.

Article  PubMed  PubMed Central  Google Scholar 

Bueren JA, Auricchio A. Advances and challenges in the development of gene therapy medicinal products for rare diseases. Hum Gene Ther. 2023;34:763–75.

Article  CAS  PubMed  Google Scholar 

Chancellor D, Barrett D, Nguyen-Jatkoe L, Millington S, Eckhardt F. The state of cell and gene therapy in 2023. Mol Ther. 2023;31:3376–88.

Article  CAS  PubMed  Google Scholar 

Maguire AM, Bennett J, Aleman EM, Leroy BP, Aleman TS. Clinical perspective: treating RPE65-associated retinal dystrophy. Mol Ther. 2021;29:442–63.

Article  CAS  PubMed  Google Scholar 

Bulcha JT, Wang Y, Ma H, Tai PWL, Gao G. Viral vector platforms within the gene therapy landscape. Signal Transduct Target Ther. 2021;6:53.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Tauscher-Wisniewski S, McGill BE, Macek TA. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nat Med. 2022;28:1381–9.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, McMillan HJ, Finkel RS, Swoboda KJ, Kwon JM, Zaidman CM, Chiriboga CA, Iannaccone ST, Krueger JM, Parsons JA, Shieh PB, Kavanagh S, Wigderson M, Tauscher-Wisniewski S, McGill BE, Macek TA. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nat Med. 2022;28:1390–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Locatelli F, Thompson AA, Kwiatkowski JL, Porter JB, Thrasher AJ, Hongeng S, Sauer MG, Thuret I, Lal A, Algeri M, Schneiderman J, Olson TS, Carpenter B, Amrolia PJ, Anurathapan U, Schambach A, Chabannon C, Schmidt M, Labik I, Elliot H, Guo R, Asmal M, Colvin RA, Walters MC. Betibeglogene autotemcel gene therapy for non-beta(0)/beta(0) genotype beta-thalassemia. N Engl J Med. 2022;386:415–27.

Article  CAS  PubMed  Google Scholar 

Bougneres P, Hacein-Bey-Abina S, Labik I, Adamsbaum C, Castaignede C, Bellesme C, Schmidt M. Long-term follow-up of hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. Hum Gene Ther. 2021;32:1260–9.

Article  CAS  PubMed  Google Scholar 

Eichler F, Duncan C, Musolino PL, Orchard PJ, De Oliveira S, Thrasher AJ, Armant M, Dansereau C, Lund TC, Miller WP, Raymond GV, Sankar R, Shah AJ, Sevin C, Gaspar HB, Gissen P, Amartino H, Bratkovic D, Smith NJC, Paker AM, Shamir E, O’Meara T, Davidson D, Aubourg P, Williams DA. Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy. N Engl J Med. 2017;377:1630–8.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fumagalli F, Calbi V, Natali Sora MG, Sessa M, Baldoli C, Rancoita PMV, Ciotti F, Sarzana M, Fraschini M, Zambon AA, Acquati S, Redaelli D, Attanasio V, Miglietta S, De Mattia F, Barzaghi F, Ferrua F, Migliavacca M, Tucci F, Gallo V, Del Carro U, Canale S, Spiga I, Lorioli L, Recupero S, Fratini ES, Morena F, Silvani P, Calvi MR, Facchini M, Locatelli S, Corti A, Zancan S, Antonioli G, Farinelli G, Gabaldo M, Garcia-Segovia J, Schwab LC, Downey GF, Filippi M, Cicalese MP, Martino S, Di Serio C, Ciceri F, Bernardo ME, Naldini L, Biffi A, Aiuti A. Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access. Lancet. 2022;399:372–83.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ozelo MC, Mahlangu J, Pasi KJ, Giermasz A, Leavitt AD, Laffan M, Symington E, Quon DV, Wang JD, Peerlinck K, Pipe SW, Madan B, Key NS, Pierce GF, O’Mahony B, Kaczmarek R, Henshaw J, Lawal A, Jayaram K, Huang M, Yang X, Wong WY, Kim B. Valoctocogene roxaparvovec gene therapy for hemophilia A. N Engl J Med. 2022;386:1013–25.

Article  CAS  PubMed  Google Scholar 

Pipe SW, Leebeek FWG, Recht M, Key NS, Castaman G, Miesbach W, Lattimore S, Peerlinck K, Van der Valk P, Coppens M, Kampmann P, Meijer K, O’Connell N, Pasi KJ, Hart DP, Kazmi R, Astermark J, Hermans C, Klamroth R, Lemons R, Visweshwar N, von Drygalski A, Young G, Crary SE, Escobar M, Gomez E, Kruse-Jarres R, Quon DV, Symington E, Wang M, Wheeler AP, Gut R, Liu YP, Dolmetsch RE, Cooper DL, Li Y, Goldstein B, Monahan PE. Gene therapy with etranacogene dezaparvovec for hemophilia B. N Engl J Med. 2023;388:706–18.

Article  CAS  PubMed  Google Scholar 

Epstein AL, Haag-Molkenteller C. Herpes simplex virus gene therapy for dystrophic epidermolysis bullosa (DEB). Cell. 2023;186(3523–3523): e3521.

Google Scholar 

Kanter J, Walters MC, Krishnamurti L, Mapara MY, Kwiatkowski JL, Rifkin-Zenenberg S, Aygun B, Kasow KA, Pierciey FJ Jr, Bonner M, Miller A, Zhang X, Lynch J, Kim D, Ribeil JA, Asmal M, Goyal S, Thompson AA, Tisdale JF. Biologic and clinical efficacy of lentiglobin for sickle cell disease. N Engl J Med. 2022;386:617–28.

Article  CAS  PubMed  Google Scholar 

Frangoul H, Altshuler D, Cappellini MD, Chen YS, Domm J, Eustace BK, Foell J, de la Fuente J, Grupp S, Handgretinger R, Ho TW, Kattamis A, Kernytsky A, Lekstrom-Himes J, Li AM, Locatelli F, Mapara MY, de Montalembert M, Rondelli D, Sharma A, Sheth S, Soni S, Steinberg MH, Wall D, Yen A, Corbacioglu S. CRISPR-Cas9 gene editing for sickle cell disease and beta-thalassemia. N Engl J Med. 2021;384:252–60.

Article  CAS  PubMed  Google Scholar 

Cappelluti MA, Mollica Poeta V, Valsoni S, Quarato P, Merlin S, Merelli I, Lombardo A. Durable and efficient gene silencing in vivo by hit-and-run epigenome editing. Nature. 2024;627:416–23.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Watts JK, Corey DR. Silencing disease genes in the laboratory and the clinic. J Pathol. 2012;226:365–79.

Article  CAS  PubMed  Google Scholar 

Koike H, Katsuno M. Transthyretin amyloidosis: update on the clinical spectrum, pathogenesis, and disease-modifying therapies. Neurol Ther. 2020;9:317–33.

Article  PubMed  PubMed Central  Google Scholar 

Ioannou A, Fontana M, Gillmore JD. RNA targeting and gene editing strategies for transthyretin amyloidosis. BioDrugs. 2023;37:127–42.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhang L, Lee C, Arnaoutova I, Anduaga J, Starost MF, Mansfield BC, Chou JY. Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia. Biochem Biophys Res Commun. 2020;527:824–30.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO, Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D, Kishnani PS, Koeberl DD. Phase I study of liver depot gene therapy in late-onset Pompe disease. Mol Ther. 2023;31:1994–2004.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Corti M, Liberati C, Smith BK, Lawson LA, Tuna IS, Conlon TJ, Coleman KE, Islam S, Herzog RW, Fuller DD, Collins SW, Byrne BJ. Safety of intradiaphragmatic delivery of adeno-associated virus-mediated alpha-glucosidase (rAAV1-CMV-hGAA) gene therapy in children affected by Pompe disease. Hum Gene Ther Clin Dev. 2017;28:208–18.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Parker MA, Erker LR, Audo I, Choi D, Mohand-Said S, Sestakauskas K, Benoit P, Appelqvist T, Krahmer M, Segaut-Prevost C, Lujan BJ, Faridi A, Chegarnov EN, Steinkamp PN, Ku C, da Palma MM, Barale PO, Ayelo-Scheer S, Lauer A, Stout T, Wilson DJ, Weleber RG, Pennesi ME, Sahel JA, Yang P. Three-year safety results of SAR422459 (EIAV-ABCA4) gene therapy in patients with ABCA4-associated stargardt disease: an open-label dose-escalation phase I/IIa clinical trial, cohorts 1–5. Am J Ophthalmol. 2022;240:285–301.

Article  CAS  PubMed  PubMed Central 

留言 (0)

沒有登入
gif