AuthorisedTherapeutic confirmatory (Phase III)Interventional

A Phase 3 Study to Evaluate Efficacy and Safety of a Single Dose of Exa-cel in Subjects with Severe Sickle Cell Disease, βS/βC Genotype

This research is a Phase 3 study, which means it's one of the final steps before a new treatment might become widely available. It's investigating a gene therapy called exa-cel for adults living with a severe form of sickle cell disease. The main goal is to find out if this single treatment can significantly reduce or even eliminate painful episodes, known as vaso-occlusive crises (VOCs), for at least a year. Researchers will also be carefully monitoring the treatment's safety, looking for any side effects, and checking other important health markers like hemoglobin levels. This study hopes to offer a new, long-lasting solution for managing sickle cell disease.

At a glance

Status

Authorised

Phase

Therapeutic confirmatory (Phase III)

Sponsor

Vertex Pharmaceuticals Inc.

Enrolment target

Start

19 Oct 2023

Sickle cell anaemia

What is this study about?

This study is looking into a new treatment called exa-cel for people with a severe type of sickle cell disease. Sickle cell disease is a lifelong condition that affects your red blood cells, which carry oxygen around your body. In people with sickle cell, their red blood cells become a 'sickle' or C-shape, especially when they're stressed or haven't had enough oxygen. These sickle cells can get stuck in small blood vessels, blocking blood flow and causing intense pain, organ damage, and other serious health problems, known as vaso-occlusive crises (VOCs).

The main aim of this study is to see if a single dose of exa-cel can stop these painful crises for a long time – at least 12 months. This treatment involves gene therapy, which means it works by changing the genes inside your cells. The hope is that by doing this, your body will start making healthy red blood cells that don't sickle. The study will carefully watch if patients who receive exa-cel go a full year without any severe crises.

Besides looking at painful crises, the researchers will also be checking many other things. They'll closely monitor patient safety by recording any side effects and changes in blood tests. They'll also measure things like the levels of healthy hemoglobin (the protein in red blood cells that carries oxygen) and whether patients need fewer blood transfusions. This detailed approach helps them understand how well the treatment works and if it's safe for people with sickle cell disease.

Key takeaways

This study explores a new gene therapy (exa-cel) for severe sickle cell disease.
The main goal is to see if it can stop painful crises for at least 12 months.
It's a Phase 3 study, meaning it's a late-stage trial before potential approvals.
Safety and how well the treatment works are being carefully monitored.
Participants must be adults (18+) with a specific type of severe sickle cell.

Who may be eligible?

This study is for adults aged 18 and over who have a specific, severe form of sickle cell disease. Because it's a new and advanced treatment, specific health conditions and previous treatments might be considered before someone can join. The study is open to both men and women.

To be considered, you would need to have been diagnosed with a particular genetic type of sickle cell disease, called βS/βC. Also, your sickle cell disease must be severe, meaning you likely experience frequent and serious painful crises or other complications.

There might be certain health issues or medications that would prevent you from taking part, as the researchers need to ensure the study is as safe as possible for everyone involved. Your doctor would help determine if you meet all the specific requirements set by the study designers.

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.

Are you 18 years old or older?
Do you have a specific genetic type of severe sickle cell disease (βS/βC)?
Do you experience severe painful sickle cell crises?
Are you willing to undergo multiple treatments (stem cell collection, conditioning, infusion)?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you would receive the investigational gene therapy, exa-cel. This treatment involves several steps: first, you would receive medication called Mozobil to help collect your blood stem cells. Then, you would undergo a conditioning treatment with Busulfan, which helps prepare your body for the new gene-modified cells. Finally, you would receive the exa-cel infusion.

After receiving exa-cel, you would have regular follow-up visits. These visits are very important for the study team to monitor your health, check how you're responding to the treatment, and look for any side effects. These check-ups will involve blood tests, physical examinations, and answering questions about your well-being. The study aims to follow participants for a long time to understand the lasting effects of the treatment, the full duration of which would be explained by the study team.

Potential risks and benefits

Participating in this study could potentially offer a new way to manage severe sickle cell disease, possibly reducing or eliminating painful crises and improving your quality of life. However, like all new treatments, there are potential risks and side effects associated with the medications used, including blood stem cell collection, the conditioning treatment, and the exa-cel infusion itself. These can range from mild side effects to more serious ones, which the study team will discuss in detail. You will be closely monitored throughout the study to manage any side effects. Remember, joining a clinical study is always voluntary, and you have the right to withdraw at any time, for any reason, without it affecting your usual medical care.

Locations (2)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

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Unverified
Italy
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Unverified
France

Common questions

What is sickle cell disease?

Sickle cell disease is a genetic condition where your red blood cells are C-shaped, get stuck easily, and block blood flow, causing pain and other health problems.

What is exa-cel?

Exa-cel is a gene therapy being tested to help your body make healthy red blood cells, aiming to reduce or stop sickle cell crises.

What is a 'severe vaso-occlusive crisis (VOC)'?

A VOC is a very painful episode in sickle cell disease, happening when sickle cells block blood vessels, often requiring hospitalisation.

How long will I be followed in this study?

The study aims to follow participants for a long time to understand the lasting effects of the treatment, the exact duration will be explained by the study team.

Can I leave the study if I change my mind?

Yes, taking part is completely voluntary, and you can withdraw from the study at any time without it affecting your medical care.