Ongoing, recruitingHuman Pharmacology (Phase I)- OtherInterventional

Gene Therapy for Pyruvate Kinase Deficiency (PKD): A Phase I Clinical Trial to Evaluate the Safety of the Infusion of Autologous CD34+ Cells Transduced with a Lentiviral Vector Carrying the Codon Optimized Red Cell Pyruvate Kinase (coRPK) Gene in Adult and Pediatric Subjects with PKD

This study is looking at a new type of treatment called gene therapy for adults who have Pyruvate Kinase Deficiency (PKD). PKD is a condition where red blood cells don't work properly and break down too quickly. In this study, doctors take some of a patient's blood cells, carefully change them in the lab, and then put them back into the patient. The main goal is to check how safe this new treatment is and if it causes any unwanted side effects when they put these changed cells back into the body. They are also watching to see if the new cells take hold properly inside the patient's body.

At a glance

Status

Ongoing, recruiting

Phase

Human Pharmacology (Phase I)- Other

Sponsor

Rocket Pharmaceuticals Inc.

Enrolment target

Start

22 Aug 2024

Inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells Pyruvate Kinase Deficiency

What is this study about?

This study is about a new approach called gene therapy for a condition known as Pyruvate Kinase Deficiency, or PKD. PKD is a genetic blood disorder that affects how red blood cells work. Normally, red blood cells carry oxygen around your body. In PKD, an important protein in these cells, called pyruvate kinase, doesn't work correctly, causing the red blood cells to break down too easily. This can lead to anaemia and other health problems.

The new treatment being tested involves taking some of a patient's own blood stem cells from their bone marrow. These are special cells that can grow into all types of blood cells. In a laboratory, a new, healthy version of the pyruvate kinase gene is carefully put into these stem cells. The hope is that once these 'fixed' stem cells are put back into the patient, they will start making healthy red blood cells that work properly and don't break down as quickly.

Because this is a very early-stage study (called a Phase I trial), the main goal is to check for safety. The researchers want to make sure putting these modified cells back into the body doesn't cause harm or unexpected problems. They'll be watching closely for any side effects and to see if the new cells successfully settle in and start producing healthy blood cells in the patient's body.

Key takeaways

This study is for adults with Pyruvate Kinase Deficiency (PKD).
It's a Phase I safety study for a new gene therapy treatment.
The therapy uses your own modified blood cells.
The main goal is to check for safety and side effects.
Participation involves medication, an infusion, and long-term monitoring.

Who may be eligible?

This study is looking for adult participants, meaning you must be 18 years old or older to be considered. Both men and women are welcome to apply.

To see if you might be eligible, the doctors will need to confirm that you have been diagnosed with Pyruvate Kinase Deficiency. There will be other specific health checks and tests to make sure the treatment is safe for you and to help doctors understand the results accurately.

It's important to remember that this is a detailed process to determine eligibility, and the study team will guide you through all the requirements.

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 confirmed diagnosis of Pyruvate Kinase Deficiency?
Are you able to attend regular follow-up appointments?
Are you generally in good health apart from your PKD, as determined by study doctors?

Answer every question to see your result.

What does participation involve?

If you join this study, it would involve several steps. First, you would have some special medications (like Busulfan, Neupogen, and Mozobil) to prepare your body. These medications help to make space for the new, modified cells. You would then receive an infusion, which is like a drip, where your own corrected cells are put back into your body.

After the infusion, you would have regular check-ups and blood tests. These appointments are important for the doctors to monitor your health, check how your body is responding to the treatment, and look for any side effects. They will be particularly interested in whether the new cells have successfully taken hold in your bone marrow.

While the exact duration isn't specified, studies like this often involve close monitoring for months to years, with frequent visits initially, becoming less frequent over time. The study team will explain the full schedule of visits and tests.

Potential risks and benefits

Participating in this study might offer the potential benefit of improving your red blood cell health and reducing the symptoms of Pyruvate Kinase Deficiency, although this is the early stage of testing. However, there are also potential risks involved, including side effects from the medications used to prepare your body, such as chemotherapy, and potential risks related to the gene therapy itself. These risks could include infections, unwanted immune reactions, or the possibility of the new cells not working as expected. You will be closely monitored for any problems. Remember, joining any clinical trial is entirely voluntary, and you have the right to withdraw from the study at any time, for any reason, without affecting your usual medical care.

Locations (1)

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

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Unverified
Spain

Common questions

What is Pyruvate Kinase Deficiency (PKD)?

PKD is an inherited blood condition where red blood cells break down too quickly because a key protein isn't working properly.

What is gene therapy?

Gene therapy is a treatment that aims to correct a problem by adding or changing genes inside a person's cells.

Is this gene therapy tested on many people yet?

No, this is a very early-stage (Phase I) study, mostly focused on checking safety in a small group of people.

What does 'autologous CD34+ cells' mean?

It means the doctors are using your *own* special blood-forming cells from your body.

What kind of tests will I have if I join?

You will have regular blood tests, and possibly bone marrow tests, to check how the treatment is working and if there are any side effects.