A Long-Term Follow-Up Study in Subjects with Severe Hemophilia A Who Received BMN 270, an Adeno-Associated Virus Vector–Mediated Gene Transfer of Human Factor VIII in a Prior BioMarin Clinical Trial
This study is a long-term follow-up for adult men with severe haemophilia A who already received a gene therapy treatment called Roctavian (BMN 270) in an earlier trial. Haemophilia A is a rare bleeding condition caused by a lack of a clotting protein called factor VIII. Because gene therapy is a newer kind of medicine, researchers need to monitor people for many years. This study checks how safe the treatment is over time and how well it keeps working. Doctors will track any side effects, including how the liver is coping and whether blood clots occur. They will also count any bleeding episodes to see if participants still need regular clotting factor injections, and check how the treatment affects their everyday quality of life. No new study medicine is given; it is entirely focused on long-term health checks.
At a glance
What is this study about?
Haemophilia A is an inherited condition where blood does not clot as quickly or effectively as it should. People with severe haemophilia A have very low levels of an essential clotting protein called factor VIII. Without enough of this protein, even minor injuries can cause prolonged bleeding, and bleeds inside joints or muscles can happen without any obvious injury. Traditionally, treatment involves regular, lifelong injections to replace the missing clotting factor.
In recent years, researchers developed a gene therapy called Roctavian (also known as BMN 270). This one-time treatment delivers a working copy of the factor VIII gene into liver cells, helping the body produce its own clotting protein. Because gene therapy is designed to create lasting changes in the body, it is vital to track participants over many years to confirm that the treatment remains safe and effective in the long run.
This follow-up study focuses on men who have already received Roctavian in a previous clinical trial. Doctors will measure factor VIII levels in the blood, track any bleeding episodes, and see if people need fewer routine clotting treatments. Just as importantly, researchers will watch carefully for any rare or late-appearing side effects, such as changes in liver health or unwanted blood clots. The knowledge gathered here will help improve care for everyone considering gene therapy in the future.
Key takeaways
- This is a Phase 4 long-term safety study for men with severe haemophilia A.
- Only people who previously received the Roctavian gene therapy in an earlier trial can join.
- No new treatments or infusions are given; the study focuses on health checks and blood tests.
- Doctors will track liver health, factor VIII levels, and any bleeding episodes over several years.
- Taking part helps researchers better understand the lasting effects and safety of gene therapy.
Who may be eligible?
This study is only open to adult men aged 18 and older who have severe haemophilia A. Because haemophilia is an X-linked genetic condition, it almost exclusively affects males, which is why the trial is limited to men.
Most importantly, participants must have already received the gene therapy Roctavian (BMN 270) as part of an earlier BioMarin clinical trial. This study is designed specifically to track people who had the infusion previously, so anyone who has not had this specific gene therapy cannot join.
If you took part in an earlier Roctavian trial, your study team will review your general health to ensure you can continue with ongoing check-ups. They will discuss the details with you and answer any questions before you decide to stay enrolled in this long-term phase.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- I am a male aged 18 or older.
- I have been diagnosed with severe haemophilia A.
- I have already received Roctavian (BMN 270) gene therapy in a previous clinical trial.
- I am willing and able to attend scheduled hospital visits for blood tests and health reviews.
What does participation involve?
Taking part in this study does not involve receiving any new study drugs. Instead, it involves attending regular follow-up appointments so doctors can monitor your health. During these visits, the study team will take blood samples to measure your factor VIII levels, check your liver function, and look for any signs of antibodies that might block factor VIII.
You will be asked to keep a record of any bleeding events you experience and note down whether you needed any extra clotting treatments. The team will also ask you to complete simple questionnaires about your daily life, physical comfort, and general wellbeing. These appointments usually take place once or twice a year over several years, allowing the medical team to build an accurate, long-term picture of your health.
Potential risks and benefits
Locations (5)
- —UnverifiedItaly
- —UnverifiedBelgium
- —UnverifiedFrance
- —UnverifiedSpain
- —UnverifiedGermany
Common questions
Will I receive another dose of gene therapy in this trial?
No. This study does not give any new doses. It is solely an observational follow-up study for people who already received Roctavian in a past trial.
Why is long-term follow-up necessary for gene therapy?
Gene therapy aims to make long-lasting changes to help your body make clotting proteins. Long-term monitoring helps doctors confirm that the treatment remains safe and continues working for years.
How often will I need to visit the clinic?
Visits are typically scheduled once or twice a year, though this can vary. Your clinical trial team will give you a clear schedule of when check-ups will happen.
What happens if my factor VIII levels start to drop?
Your medical team will monitor your blood levels closely. If your levels drop or you start having bleeds, your doctor will discuss standard treatments, such as factor VIII injections, to keep you safe.
Can I leave the study if I change my mind?
Yes. Participation is completely voluntary. You can choose to leave the study at any time, and doing so will never affect your regular medical care.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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