Study to Evaluate Sepofarsen in Subjects With Leber Congenital Amaurosis (LCA) Type 10 (HYPERION)
This study, called HYPERION, is looking at a new medicine called sepofarsen to treat a rare inherited eye condition called Leber Congenital Amaurosis Type 10 (LCA10). This condition can cause severe vision loss or blindness from an early age. The study wants to find out how well sepofarsen works and if it is safe for people with LCA10. Participants will receive sepofarsen in one eye and a dummy treatment (placebo) in the other, given as an injection into the eye. This helps researchers compare the effects of the new medicine. The study will last for two years, and treatments are given every six months.
At a glance
What is this study about?
This study is called HYPERION, and it's looking into a new medicine named sepofarsen. This medicine is designed to help people with a very rare eye condition called Leber Congenital Amaurosis Type 10, often shortened to LCA10. This condition is inherited, meaning it's passed down in families, and it mainly affects the retina, which is the light-sensing part at the back of your eye. People with LCA10 can have very poor vision or even be blind from birth or early childhood. The study focuses specifically on individuals who have a particular genetic fault, or 'mutation', called c.2991+1655A>G in the CEP290 gene, which is known to cause their LCA10.
The main goal of this research is to see if sepofarsen can improve vision in people with LCA10 and, importantly, to check if it's safe and doesn't cause too many side effects. To do this, the study uses a careful method where participants won't know if they are getting the actual medicine or a 'dummy' treatment called a placebo. Also, the doctors giving the treatment won't know either. This is called 'double-masked' and helps make sure the results are as fair and unbiased as possible. In this study, one eye will receive sepofarsen and the other will receive the placebo, allowing for a direct comparison within the same person.
Over the two-year study period, the medicine or placebo will be given as injections directly into the eye every six months. After the first year, everyone whose eye received sepofarsen will continue to get it. For the eye that received the placebo in the first year, half will switch to sepofarsen, and the other half will continue with the placebo for the second year. This design helps the researchers gather a lot of information about the long-term effects and safety of sepofarsen.
Key takeaways
- This study tests a new medicine for Leber Congenital Amaurosis Type 10 (LCA10).
- It targets a specific genetic fault (CEP290 gene mutation).
- Treatment is given by eye injection every six months for two years.
- One eye gets the medicine, the other gets a dummy treatment to compare.
- The study aims to check if the medicine is safe and improves vision.
- Participants can choose to leave the study at any time.
Who may be eligible?
To be considered for this study, you would need to have received a clear medical diagnosis of LCA10 and also have confirmation from a genetic test that you carry the specific gene fault (c.2991+1655A>G mutation in the CEP290 gene) that this study is targeting. Both adults (18 years and older) and children (aged 6 to under 18 years) can be considered.
Your vision in both eyes needs to be relatively similar, meaning not too different from each other. Also, your vision should be in a certain range for testing – not too good (like 20/50 or better) but also not completely without light perception, unless there is clear evidence that your vision was better in the past. Doctors will also need to see that you have some healthy retinal tissue in the central part of your eye.
There are also reasons why you might not be able to join. For example, if you have other eye conditions that might make it hard to compare your eyes, or if you've had other genetic or stem cell treatments for eye problems before. If you have significant cataracts that block your vision, or certain active swelling in your eye that's not stable, you might also not be eligible.
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.
- Do I have a confirmed diagnosis of LCA10?
- Do I have the specific c.2991+1655A>G mutation in the CEP290 gene?
- Am I at least 6 years old?
- Is the vision in my two eyes roughly similar?
- Have I had other genetic or stem cell treatments for my eyes?
What does participation involve?
If you join this study, it will last for two years. You will have regular visits to the clinic, where doctors will check your vision and conduct various eye tests. The treatment, either sepofarsen or the placebo, will be given as an injection into each eye every six months. You will have one eye treated with the study medicine and the other with a dummy treatment during the first year. In the second year, the eye that received the medicine will continue to get it, and for the eye that received the dummy treatment, some will switch to the medicine while others will continue with the dummy. Throughout the study, the research team will closely monitor your eye health and overall well-being. There will be several assessments to track any changes in your vision and to make sure the treatment is safe for you.
Potential risks and benefits
Locations (16)
- UCSF Wayne and Gladys Valley Center for VisionVerified postcodeSan Francisco, United States· Recruiting
- University of Miami - Bascom Palmer Eye InstituteVerified postcodeMiami, United States· Recruiting
- University of IowaVerified postcodeIowa City, United States· Recruiting
- University of Minnesota Medical SchoolVerified postcodeMinneapolis, United States· Recruiting
- University of Pennsylvania - Center for Advanced Retinal & Ocular TherapeuticsVerified postcodePhiladelphia, United States· Recruiting
- Universitair Ziekenhuis Gent (UZ)Verified postcodeGhent, Belgium· Recruiting
- INRET Clínica/ Santa Casa de Misericórdia de Belo HorizonteVerified postcodeBelo Horizonte, Brazil· Recruiting
- Federal University of São Paulo - Hospital São Paulo (UNIFESP-HSP)Verified postcodeSão Paulo, Brazil· Recruiting
- University of AlbertaVerified postcodeEdmonton, Canada· Recruiting
- The Hospital for Sick Children - SickKidsVerified postcodeToronto, Canada· Recruiting
- Centre de maladies rares CHNO des Quinze VingtVerified postcodeParis, France· Recruiting
- Justus-Liebig Universität - Department of OphthalmologyVerified postcodeGiessen, Germany· Recruiting
Common questions
What is Leber Congenital Amaurosis Type 10 (LCA10)?
LCA10 is a rare, inherited eye condition that causes severe vision loss or blindness, usually starting very early in life. It's caused by a fault in a specific gene.
What is sepofarsen?
Sepofarsen is a new medicine being tested to see if it can help improve vision in people with LCA10 linked to a specific genetic fault.
How is the treatment given?
The treatment is given as an injection directly into the eye. These injections are given every six months.
What is a placebo?
A placebo is a 'dummy' treatment that looks just like the real medicine but contains no active ingredients. It helps researchers compare the real medicine's effects.
How long will the study last?
The study for each participant will last for two years.
How to find out more
Sepul Bio Patient Advocacy Director
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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