Active not recruitingPHASE1, PHASE2INTERVENTIONAL

AAV Gene Therapy Study for Subjects with PKU

This new study is looking into a treatment called BMN 307 for people with Phenylketonuria (PKU). PKU is a lifelong condition where the body can't properly break down a substance called phenylalanine, found in protein. This study is in its early stages (Phase 1/2), meaning researchers are mainly checking if the new treatment is safe for adults with PKU and how their bodies react to it. They also want to see if it helps improve the condition. Participants will receive one dose of BMN 307 and will be carefully watched afterwards to see if there are any side effects and if their PKU gets better. This research aims to find new ways to manage PKU beyond current dietary restrictions.

At a glance

Status

Active not recruiting

Phase

PHASE1, PHASE2

Sponsor

BioMarin Pharmaceutical

Enrolment target

100

Start

24 Sep 2020

Estimated completion

01 Dec 2027

Phenylketonuria (PKU)

What is this study about?

This study is trying out a new and hopeful treatment for a condition called Phenylketonuria, or PKU. PKU is a condition some people are born with where their body cannot properly process a specific part of protein called phenylalanine. If too much phenylalanine builds up, it can cause health problems. Currently, people with PKU usually need to follow a very strict diet to control their phenylalanine levels.

This new treatment, called BMN 307, is a type of gene therapy. Gene therapy works by aiming to fix the underlying problem that causes PKU. The idea is to give the body instructions to make the missing enzyme that helps break down phenylalanine. Researchers want to see if giving this treatment just once can help adults with PKU.

This is an early-stage study, which means it's one of the first times this treatment is being tested in people. The main goals are to find out if BMN 307 is safe for people to take, what effects it has on their bodies, and if it could potentially help manage their PKU better. They will also be looking at how well people tolerate the treatment.

Key takeaways

This is an early study testing a new gene therapy (BMN 307) for PKU.
It aims to see if the treatment is safe and helps adults with PKU.
Participation involves a single dose of the treatment and regular follow-up visits.
You must have PKU due to PAH deficiency to qualify.
It's important to understand potential benefits and risks before deciding to join.

Who may be eligible?

To join this study, you need to be an adult (age 15 or older, with no upper age limit) who has been diagnosed with PKU due to a problem with an enzyme called PAH. Both men and women can take part.

It's important that you are able and willing to keep eating your usual diet throughout the study, just as you do now. You'll also need to avoid certain substances that could harm your liver after receiving the study treatment. You must also be willing to use effective birth control if needed and be able to follow all the study instructions and visits.

You cannot join if your PKU is caused by a different kind of problem (called BH4 deficiency). You also can't take part if you have serious liver problems, have had gene therapy before, or have had certain types of cancer. The study team will also check for any other health conditions that might make it unsafe for you to participate.

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 aged 15 or older.
I have been diagnosed with PKU due to PAH deficiency.
I am able to keep my diet consistent during the study.
I haven't had gene therapy before.
I do not have severe liver problems or a history of certain cancers.
I am willing to follow study instructions and use effective contraception if needed.

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you will receive a single dose of the experimental treatment, BMN 307. This means you will get the treatment only once. After getting the treatment, you will need to come for regular check-ups with the study team. These visits are important so they can closely monitor your health, look for any side effects, and see how the treatment is affecting your PKU. The study team will explain exactly what each visit involves, including blood tests or other checks. The total length of your participation and how often you'll have appointments will be explained in detail by the study team.

Potential risks and benefits

Taking part in a study like this means you might be among the first to try a new treatment for PKU, which could potentially offer a new way to manage your condition. However, because this is an early-stage study, we don't yet know all the possible side effects or how effective it will be. There could be risks we don't yet know about, and the treatment might not help you. You are free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (3)

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

University of South Florida
Verified postcode
Tampa, United States
Morristown Medical Center
Verified postcode
Morristown, United States
University Hospital Birmingham NHS Foundation Trust
Verified postcode
Birmingham, United Kingdom

Common questions

What is gene therapy?

Gene therapy is a type of treatment that tries to correct the underlying cause of a disease by replacing or inactivating faulty genes, or by introducing new genes to help fight a disease.

What does 'Phase 1/2 study' mean?

This means it's an early safety study. Phase 1 focuses on finding out if a new treatment is safe and what dose to use. Phase 2 then looks at how well it works and continues to check for safety, usually in a larger group of people.

Will I have to change my diet if I join the study?

The study asks that you maintain your usual diet throughout. You won't be asked to change your protein intake from what you normally eat.

Is this a cure for PKU?

This is an early research study to see if the treatment is safe and effective. It's too soon to say if it will be a cure. The aim is to find better ways to manage PKU.

What if I experience side effects during the study?

The study team will closely monitor you for any side effects. If you experience anything unusual, you should tell them immediately, and they will provide care and support.