BMN 270-201: Gene Therapy Study in Severe Haemophilia A Patients
Research type
Research Study
Full title
A Phase 1/2, Dose-Escalation Safety, Tolerability and Efficacy Study of BMN 270, an Adenovirus-Associated Virus Vector–Mediated Gene Transfer of Human Factor VIII in Patients with Severe Haemophilia A
IRAS ID
173490
Contact name
Emily Symington
Contact email
Sponsor organisation
BioMarin Pharmaceutical Inc.
Eudract number
2014-003880-38
Duration of Study in the UK
6 years, 1 months, 1 days
Research summary
This study is being conducted by Biomarin Pharmaceutical Inc. as an open label, dose escalation study in order to determine the safety and efficacy of BMN 270 (an Adeno-Associated Virus based gene therapy vector in participants with severe Haemophilia A.
Haemophilia A (HA) is an X-linked recessive bleeding disorder that affects approximately 1 in 5,000 males. It is caused by deficiency in the activity of coagulation factor VIII (FVIII), which is essential to blood clotting. Severe HA is classified as FVIII activity less than 1% of wild type (< 1 IU/dL), moderate disease comprises 1-5% of wild type activity and the mild form is 5-40% activity. Clinical manifestations of severe HA are frequent spontaneous bleeding episodes, predominantly in joints and soft tissues, with a substantially increased risk of death from haemorrhage when the brain is involved. Haemophilia A is well suited for a gene replacement approach because clinical manifestations are attributable to the lack of a single gene product (FVIII) that circulates in minute amounts (200 ng/ml) in the plasma.
This is the first study to determine whether the treatment is safe at different dose levels and also to determine the dose at which BMN 270 may be sufficient to have a positive effect on participant’s Haemophilia A. BMN 270 offers the potential of disease modification by stimulating continuous endogenous production of FVIII levels following a single intravenous administration and is designed to achieve stable, potentially life-long expression of active hFVIII in the blood.
REC name
South Central - Oxford A Research Ethics Committee
REC reference
15/SC/0242
Date of REC Opinion
2 Jun 2015
REC opinion
Further Information Favourable Opinion