A Phase 1/Phase 2 open-label study to evaluate the safety, tolerability, and efficacy of a single intravenous administration of an investigational medication in adult participants with phenylketonuria (PKU)-Tx Tester

Study of Investigational Gene Therapy for PKU

A Phase 1/Phase 2 open-label study to evaluate the safety, tolerability, and efficacy of a single intravenous administration of an investigational medication in adult participants with phenylketonuria (PKU)-Tx Tester
Recruiting
Transgender
Phase 2/3
5 Locations

Study Overview

This study is looking for individuals 18 to 65 years old with 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.

PKU is an inherited disorder caused by abnormalities 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 the nerves in your body. 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 medication injection is also available.

The purpose of the study is to evaluate the safety and efficacy of an investigational gene

therapy in reducing phenylalanine (Phe) levels and in the elimination of a Phe restricted diet.

Study Details

The investigational gene therapy will insert a copy of the gene into your liver to stimulate your

liver to produce an enzyme (a protein that breaks down Phe) to lower blood Phe levels. This

enzyme converts the Phe present in your blood into other essential proteins that keep the brain

and nerves in your body healthy.

• This is an open label study (everyone on the study will receive the investigational gene

therapy) which is injected once (into the arm).

• Approximately 32 individuals will participate in this study.

• The study will last approximately 102 weeks (about 2 years). This includes

approximately 6 weeks for the screening period, 1 day for the treatment period and

approximately 96 weeks for the follow-up period.

1. Screening period (6 weeks): Various tests will be done to determine if you are

eligible for the study.

2. Treatment: The injection will be administered, and you will stay overnight for

observation for a minimum duration of 24 hours for monitoring.

3. Follow-up (96 weeks): Approximately 41 study visits, up to two times per week.

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.

Eligibility Criteria

Inclusion Criteria:

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Exclusion Criteria:

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Updated on 23 Dec 2024. Study ID: NCT215545

This study investigates the safety and efficacy of an investigational gene therapy for adults with phenylketonuria (PKU). PKU is a genetic disorder caused by a defect in the gene responsible for producing the enzyme phenylalanine hydroxylase (PAH). This defect leads to high levels of phenylalanine (Phe), a building block of proteins, in the blood, which can harm the brain and nerves if untreated. Typically, PKU is managed through a strict diet low in protein and Phe, along with medical foods and sometimes daily medication injections. The purpose of this study is to assess whether the investigational gene therapy can safely reduce Phe levels and eliminate the need for a Phe-restricted diet.

Participants will receive a single injection of the investigational gene therapy, which aims to introduce a copy of the gene into the liver to stimulate enzyme production that breaks down Phe. This enzyme helps convert Phe into other essential proteins, supporting brain and nerve health. The study is open-label, meaning all participants will receive the therapy, and involves an overnight stay for monitoring after the injection. Following the treatment, there will be a follow-up period with approximately 41 study visits, some of which can be conducted remotely.

  • Who can participate: Adults aged 18 to 65 years with phenylketonuria (PKU) are eligible to participate. Specific inclusion and exclusion criteria apply, such as stable health conditions and no recent gene therapy treatments.
  • Study details: Participants will receive a single intravenous injection of the investigational gene therapy. The study includes an overnight stay for observation post-injection and a follow-up period with approximately 41 visits, some of which can be conducted remotely.
  • Study timelines and visits: The study will last approximately 102 weeks. The study requires 41 visits.

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