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CHECK ELIGIBILITY
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This study is looking for individuals 18 to 65 years old with phenylketonuria (PKU).

Sanofi believes that everyone should have the opportunity to take part in clinical trials. It is important to include people who have been historically under-represented in clinical trials. Sanofi is committed to inclusivity in our studies.

If you are interested in learning more about this study, we encourage you to complete a brief questionnaire to help determine if you may qualify to participate and be referred to a site recruiting in your area for further evaluation.

Learn more about PKU

PKU is an inherited disorder caused by mutations in the gene coding for the phenylalanine hydroxylase (PAH) enzyme, which increases the levels of Phenylalanine (Phe), a building block of proteins in the blood. If PKU is not adequately treated, Phe can increase to harmful levels in the body, causing injury to the brain and neuropsychological problems. The usual treatment for participants with PKU is strict dietary protein restriction along with manufactured medical foods that are low in protein and Phe. A daily oral medication and injectable medication are currently available alternative treatments.

What is the investigational medication?

The investigational gene therapy is designed to insert a correct copy of the PAH gene into the liver to stimulate the liver to produce a functional PAH enzyme (a protein that breaks down Phe) to lower blood Phe levels. If this happens, then this enzyme will convert the Phe present in the blood into other essential proteins that keep the brain and nerves in the body healthy. 

The investigational gene therapy will be administered as a single intravenous (IV) infusion.

Study Information

The purpose of the study is to evaluate the safety and efficacy of an investigational gene therapy in reducing Phe levels and in the elimination of a Phe-restricted diet.
Participants

~ 32

Study length

102 Weeks (about 2 years)

Treatment
The injection will be administered and you will stay overnight for a minimum of 24 hours for monitoring.
Screening Period (6 weeks)
Various tests will be done to determine if you are eligible for the study, including blood tests, neurocognitive testing and diet assessment.
Follow-up (96 weeks, ~ 37 study visits)

During the first three (3) months, visits will occur twice per week and then less frequently to once every other week and then once every couple months.

Some visits are at the study site and some visits can be performed as remote visits, where study assessments can be done by a qualified in-home service provider at your home.

Tests may include physical exam, medical history, blood and urine tests, diet review, electrocardiogram (ECG) to monitor heart activity, liver imaging and neurocognitive testing.

Am I eligible?

  • Study FAQ

    What type of study-related medical care is provided during the study?

    All study-related medical care related to the study is provided, including study-related exams, study-related medications and other study-related medical care. Insurance is not required to participate.  All study-related medical care will be explained.

    This study may offer compensation/reimbursement for travel, accomodations and meals for study participants and a caregiver. 

    Are there rules I need to follow if I decide to participate in this study?

    Participation in this study means that you agree to follow certain study rules. Your safety and the ability of the study to produce reliable new knowledge depend on it.
    • Provide truthful information about your medical condition(s) and drug(s) that you have been taking for this (these) condition(s)
    • Inform the study doctor before stopping or modifying your treatment(s) or before starting any new treatment(s)
    • Attend the scheduled visits and allow the tests or procedures to be performed as planned
    • Inform the study doctor or study staff, as soon as possible, of any side effects or health problems even if you do not think they are caused by the study drug
    • Complete a diary / questionnaire following the study instructions 

    Can I speak with someone if I have questions?

    Yes, after you complete the online questionnaire and give permission to be contacted, a study representative will contact with you. You can ask questions at any time, before deciding to participate and during study conduct.

    V1, 12Apr2024
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