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Hilary Longhurst
Senior Medical Officer, Immunology, Te Toki Tumai/Health NZ Dr. Hilary Longhurst is currently Senior Medical Officer in Immunology for Te Toka Tumai/ Health New Zealand and Honorary Associate Professor at the University of Auckland. She qualified in medicine from Cambridge University and Imperial College, London and developed her interest in Immunology while studying for her PhD at the National Institute for Medical Research (now the Crick Institute). She has been instrumental in developing patient-centred services for those with hereditary angioedema due to C1 inhibitor deficiency. Being involved in most major HAE trials in the past 20 years, she has been a pioneer in developing and enabling access to the new therapies, which have transformed the lives of many people with this disabling disorder.
Hilary also has clinical and academic interests in primary and secondary antibody deficiency and serves as medical advisor to DC Action, a charity supporting those with telomere biology disorders. |
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KLKB1 Gene Editing Treatment for Patients with Hereditary Angioedema
Hereditary angioedema , caused by C1 inhibitor deficiency, is a disabling, disfiguring and sometimes fatal condition. Affected patients are subject to unpredictable swellings which can affect any part of the body including internal areas, and if untreated, last 2-5 days. Treatment of acute angioedema is by intravenous C1 inhibitor replacement (Berinert), or a subcutaneous bradykinin B2 inhibitor, since conventional angioedema treatments (antihistamines, corticosteroids or adrenaline) are ineffective.
C1 inhibitor regulates the contact (kallikrein/bradykinin) pathway and the angioedema of C1 inhibitor deficiency occurs because of overactivity of this pathway.
We have used an in vivo, single dose, CRISPR/Cas9 treatment to edit the prekallikrein (KLKB1) gene of the contact pathway, which we believe will provide a permanent cure from angioedema symptoms for people with C1 inhibitor deficiency.
Seven of the first 10 hereditary angioedema patients, worldwide, were treated at New Zealand Clinical Research, Auckland. Here, I will present the safety and efficacy outcomes from this phase 1 dose-finding study.
C1 inhibitor regulates the contact (kallikrein/bradykinin) pathway and the angioedema of C1 inhibitor deficiency occurs because of overactivity of this pathway.
We have used an in vivo, single dose, CRISPR/Cas9 treatment to edit the prekallikrein (KLKB1) gene of the contact pathway, which we believe will provide a permanent cure from angioedema symptoms for people with C1 inhibitor deficiency.
Seven of the first 10 hereditary angioedema patients, worldwide, were treated at New Zealand Clinical Research, Auckland. Here, I will present the safety and efficacy outcomes from this phase 1 dose-finding study.
