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Sources and reviewers


US Dept of Health & Human Services. National Institutes of Health. National Library of Medicine. Genetics Home Reference. Your guide to understanding genetic conditions. What is gene therapy? Published 10 September 2019. 

Wellcome Genome Campus. Your genome: what is gene therapy. Published 19 September 2019. 

Miesbach W, O’Mahony B, Key NS, Makris M. How to discuss gene therapy for haemophilia? A patient and physician perspective. Haemophilia. 2019;25:545–557. DOI: 10.1111/hae.13769.

O’Callaghan S. Gene therapy. National Haemophilia Mar 2018;201:5-7.  

Reynolds S. Special report: the frontier of bleeding disorders treatment. 14th Workshop on Novel Technologies and Gene Transfer for Hemophilia highlights tremendous progress and the challenges ahead. Hemaware, 27 February 2019.

Clinical trials

Ascending Dose Study of Genome Editing by Zinc Finger Nuclease Therapeutic SB-FIX in Subjects With Severe Hemophilia B. Identifier: NCT02695160

George, LA, Sullivan, SK, Giermasz, A et al. Hemophilia B gene therapy with a high-specific-activity factor IX variant. N Engl J Med. 2017;377(23):2215-2227. DOI: 10.1056/NEJMoa1708538

Majowicz A, Nijmeijer B, Lampen MH, et al. Therapeutic hFIX activity achieved after single AAV5-hFIX treatment in hemophilia B Patients and NHPs with pre-existing Anti-AAV5 NABs. Mol Ther Methods Clin Dev. 2019 May 28;14:27-36. doi: 10.1016/j.omtm.2019.05.009.

Rangarajan, S, Walsh, L, Lester, W. AAV5–factor VIII gene transfer in severe hemophilia A. N Engl J Med 2017;377:2519-2530. doi: 10.1056/NEJMoa1708483

Stephens CJ, Lauronc EJ, Kashentsevaa E, Lu ZH, Yokoyama WM, Curiel DT. Long-term correction of hemophilia B using adenoviral delivery of CRISPR/Cas9.  J of Controlled Release. 2019 Mar 28;298:128-141. doi: 10.1016/j.jconrel.2019.02.009


We would like to thank the bleeding disorders community members and expert reviewers who made valuable contributions to this education resource.

In December 2018-January 2019 HFA conducted a national community survey to find out what questions the bleeding disorders community would like to have answered. This resource has been developed to answer those questions. 

This resource was funded by an education grant from BioMarin.


Prof John Rasko AO, Sydney Medical School, University of Sydney; Head, Gene and Stem Cell Therapy Program, Centenary Institute; Head of Department, Cell & Molecular Therapies, Royal Prince Alfred Hospital, Sydney.

Dr Julie Curtin, Clinical Senior Lecturer, Paediatrics & Child Health, University of Sydney; Senior Staff Specialist, Department Head, Haematology, The Children’s Hospital at Westmead, NSW.

Australian Haemophilia Nurses’ Group:
Jaime Chase, Children's Cancer & Haematology Service, John Hunter Children's Hospital, Newcastle, NSW;
Penny McCarthy, Ronald Sawers Haemophilia Centre, The Alfred, Melbourne.

Australian And New Zealand Physiotherapy Haemophilia Group: Alison Morris, Perth Children’s Hospital, WA.

Australia/New Zealand Haemophilia Social Workers' and Counsellors' Group: Kathryn Body, Haemophilia Foundation ACT, Canberra

HFA Gene Therapy Consumer Review Group
(individuals not listed for privacy reasons)

Date last reviewed: 12 October 2019

Important Note: This information was developed by Haemophilia Foundation Australia for education and information purposes only and does not replace advice from a treating health professional. Always see your health care provider for assessment and advice about your individual health before taking action or relying on published information. This information may be printed or photocopied for educational purposes.

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