Bulcha JT, Wang Y, Ma H, Tai PWL, Gao G. Viral vector platforms within the gene therapy landscape. Signal Transduct Target Ther. 2021;6(1):53.
Article CAS PubMed Google Scholar
Papanikolaou E, Bosio A. The Promise and the Hope of Gene Therapy. Front Genome Ed. 2021;24(3):618346.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, et al. Current clinical applications of in vivo gene therapy with AAVs. Mol Ther. 2021;29(2):464–88.
Article CAS PubMed Google Scholar
EMA. European Medicines Agency. 2020 [cited 2023 Jan 16]. Libmeldy. Available from: https://www.ema.europa.eu/en/medicines/human/EPAR/libmeldy
Del Grosso A, Parlanti G, Mezzena R, Cecchini M. Current treatment options and novel nanotechnology-driven enzyme replacement strategies for lysosomal storage disorders. Adv Drug Deliv Rev. 2022;188:114464.
Lachmann RH. Treating lysosomal storage disorders: what have we learnt? J Inherit Metab Dis. 2020;43(1):125–32.
Platt FM, d’Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Lysosomal storage diseases. Nat Rev Dis Primer. 2018;4(1):1–25.
Wijburg FA, Aiach K, Chakrapani A, Eisengart JB, Giugliani R, Héron B, et al. An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA. Mol Genet Metab. 2022;135(2):133–42.
Article CAS PubMed Google Scholar
Lanar S, Parker S, O’Neill C, Marrel A, Arnould B, Héron B, et al. Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach. Orphanet J Rare Dis. 2022;17(1):75.
Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, et al. Longitudinal natural history of pediatric subjects affected with mucopolysaccharidosis IIIB. J Pediatr. 2022;249:50-58.e2.
Article CAS PubMed Google Scholar
Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160(6):603–8.
Weinreb NJ, Deegan P, Kacena KA, Mistry P, Pastores GM, Velentgas P, et al. Life expectancy in Gaucher disease type 1. Am J Hematol. 2008;83(12):896–900.
Article PubMed PubMed Central Google Scholar
Damiano AM, Pastores GM, Ware JE. The health-related quality of life of adults with Gaucher’s disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res Int J Qual Life Asp Treat Care Rehabil. 1998;7(5):373–86.
Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, et al. Characterization of classical and nonclassical fabry disease: a multicenter study. J Am Soc Nephrol JASN. 2017;28(5):1631–41.
Article CAS PubMed Google Scholar
Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet Med Off J Am Coll Med Genet. 2009;11(11):790–6.
Arends M, Biegstraaten M, Hughes DA, Mehta A, Elliott PM, Oder D, et al. Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: analysis of prognostic factors. PLoS ONE. 2017;12(8):e0182379.
Article PubMed PubMed Central Google Scholar
Bashorum L, McCaughey G, Evans O, Humphries AC, Perry R, MacCulloch A. Burden associated with Fabry disease and its treatment in 12–15 year olds: results from a European survey. Orphanet J Rare Dis. 2022;17(1):1–12.
Khan A, Barber DL, Huang J, Rupar CA, Rip JW, Auray-Blais C, et al. Lentivirus-mediated gene therapy for Fabry disease. Nat Commun. 2021;12(1):1178.
Article CAS PubMed PubMed Central Google Scholar
Eskes ECB, Beishuizen CRL, Corazolla EM, van Middelaar T, Brands MMMG, Dekker H, et al. Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study. Orphanet J Rare Dis. 2022;17(1):383.
Article PubMed PubMed Central Google Scholar
Collin-Histed T, Rosenberg A, Hopman N, Pacey J. Understanding patient and parent/caregiver perceptions on gene therapy in Gaucher disease: an international survey. Orphanet J Rare Dis. 2023;18(1):5.
Article PubMed PubMed Central Google Scholar
Harrison M, Milbers K, Hudson M, Bansback N. Do patients and health care providers have discordant preferences about which aspects of treatments matter most? evidence from a systematic review of discrete choice experiments. BMJ Open. 2017;7(5):e014719.
Article PubMed PubMed Central Google Scholar
Bywall KS, Veldwijk J, Hansson MG, Kihlbom U. Patient Perspectives on the value of patient preference information in regulatory decision making: a qualitative study in Swedish patients with rheumatoid arthritis. Patient - Patient-Centered Outcomes Res. 2019;12(3):297–305.
Janssens R, Russo S, van Overbeeke E, Whichello C, Harding S, Kübler J, et al. Patient preferences in the medical product life cycle: what do stakeholders think? semi-structured qualitative interviews in europe and the USA. Patient - Patient-Centered Outcomes Res. 2019;12(5):513–26.
Shahin W, Kennedy GA, Stupans I. The consequences of general medication beliefs measured by the beliefs about medicine questionnaire on medication adherence: a systematic review. Pharmacy. 2020;8(3):147.
Article PubMed PubMed Central Google Scholar
Russo S, Jongerius C, Faccio F, Pizzoli SFM, Pinto CA, Veldwijk J, et al. Understanding patients’ preferences: a systematic review of psychological instruments used in patients’ preference and decision studies. Value Health. 2019;22(4):491–501.
Hauber B, Coulter J. Using the threshold technique to elicit patient preferences: an introduction to the method and an overview of existing empirical applications. Appl Health Econ Health Policy. 2020;18(1):31–46.
Llewellyn-Thomas, H. H. Threshold technique. In: encyclopedia of medical decision making. Thousand Oaks: Sage; 2009. 1134–7.
Whichello C, Levitan B, Juhaeri J, Patadia V, DiSantostefano R, Pinto CA, et al. Appraising patient preference methods for decision-making in the medical product lifecycle: an empirical comparison. BMC Med Inform Decis Mak. 2020;20(1):114.
Article PubMed PubMed Central Google Scholar
Horne R, Weinman J, Hankins M. The beliefs about medicines questionnaire: the development and evaluation of a new method for assessing the cognitive representation of medication. Psychol Health. 1999;14(1):1–24.
Heijmans, M. Meetinstrumenten in de Zorg. 2003 [cited 2023 Jan 24]. BMQ-specific and general (Nederlands). Available from: https://meetinstrumentenzorg.nl/wp-content/uploads/instrumenten/402_3_N.pdf
Wong CH, Siah KW, Lo AW. Estimation of clinical trial success rates and related parameters. Biostatistics. 2019;20(2):273–86.
4D Molecular Therapeutics. An open-label, phase 1/2 trial of gene therapy 4D-310 in adults with fabry disease [Internet]. clinicaltrials.gov; 2022 Dec [cited 2023 Jan 24]. Report No.: NCT04519749. Available from: https://clinicaltrials.gov/ct2/show/NCT04519749
Sangamo Therapeutics. A phase I/II, multicenter, open-label, single-dose, dose-ranging study to assess the safety and tolerability of ST-920, an AAV2/6 human alpha galactosidase a gene therapy, in subjects with fabry disease [Internet]. clinicaltrials.gov; 2022 Nov [cited 2023 Jan 24]. Report No.: NCT04046224. Available from: https://clinicaltrials.gov/ct2/show/NCT04046224
Thompson AA, Walters MC, Kwiatkowski J, Rasko JEJ, Ribeil JA, Hongeng S, et al. Gene therapy in patients with transfusion-dependent β-thalassemia. N Engl J Med. 2018;378(16):1479–93.
Article CAS PubMed Google Scholar
Wynn R. A Phase I-II, Study of autologous CD34+ haematopoietic stem cells transduced ex vivo with cd11b lentiviral vector encoding for human sgsh in patients with mucopolysaccharidosis type IIIA (MPS IIIa, Sanfilippo Syndrome Type A) [Internet]. clinicaltrials.gov; 2022 Oct [cited 2023 Jan 24]. Report No.: NCT04201405. Available from: https://clinicaltrials.gov/ct2/show/NCT04201405
Freeline Therapeutics. A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry Disease [Internet]. clinicaltrials.gov; 2021 Feb [cited 2023 Jan 24]. Report No.: NCT04040049. Available from: https://clinicaltrials.gov/ct2/show/NCT04040049
Freeline Therapeutics. a multicentre, long-term, follow-up study to investigate the safety and durability of response following dosing of an adeno-associated viral vector (FLT190) in subjects with fabry disease [Internet]. clinicaltrials.gov; 2020 Sep [cited 2023 Jan 24]. Report No.: NCT04455230. Available from: https://clinicaltrials.gov/ct2/show/NCT04455230
AVROBIO. An open-label, multinational study of the efficacy and safety of ex vivo, lentiviral vector-mediated gene therapy AVR-RD-01 For treatment-naive subjects with classic fabry disease [Internet]. clinicaltrials.gov; 2022 Nov [cited 2023 Jan 25]. Report No.: NCT03454893. Available from: https://clinicaltrials.gov/ct2/show/NCT03454893
Tardieu M, Zérah M, Gougeon ML, Ausseil J, de Bournonville S, Husson B, et al. Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial. Lancet Neurol. 2017;16(9):712–20.
Article CAS PubMed Google Scholar
Ultragenyx Pharmaceutical Inc. A Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients With Middle and Advanced Phases of MPS IIIA Disease [Internet]. clinicaltrials.gov; 2023 Jan [cited 2023 Jan 24]. Report No.: NCT04088734. Available from: https://clinicaltrials.gov/ct2/show/NCT04088734
Ultragenyx Pharmaceutical Inc. A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) [Internet]. clinicaltrials.gov; 2022 Nov [cited 2023 Jan 24]. Report No.: NCT04360265. Available from:
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