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

Gene Therapy for Phenylketonuria (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

You may be eligible for this study if you meet the following criteria:

  • Conditions: PKU, Phenylketonuria, gene therapy
  • Gender: Transgender

Inclusion Criteria:
  •  
Exclusion Criteria:
  •  
 

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 an inherited disorder caused by issues with the gene coding for the phenylalanine hydroxylase (PAH) enzyme, leading to high levels of phenylalanine (Phe) in the blood. If untreated, high Phe levels can damage the brain and nerves. Traditional treatments include a strict diet and special medical foods, with some patients also receiving daily medication injections.

Participants in this study will receive a single intravenous administration of the investigational gene therapy. This therapy aims to insert a gene into the liver to produce an enzyme that breaks down Phe, converting it into essential proteins. The study is open-label, meaning all participants will receive the gene therapy. The study involves an overnight stay post-injection for monitoring and a follow-up period with approximately 41 visits, some of which can be conducted remotely.

  • Who can participate: Adults aged 18 to 65 years with phenylketonuria (PKU) are eligible. Participants must be able to undergo genetic therapy and comply with study procedures.
  • Study details: Participants receive a single intravenous injection of the investigational gene therapy and are monitored overnight. Follow-up visits occur for up to 96 weeks, with some conducted remotely.
  • Study timelines and visits: The study will last 102 weeks. The study requires 41 visits.

Find a study site near you

We have submitted the contact information you provided to the research team at {{SITE_NAME}}. A copy of the message has been sent to your email for your records.
US Only: Would you like to be notified about other trials? Sign up for Patient Notification Services.
Sign up

Send a message

Enter your contact details to connect with study team

Investigator Avatar

Primary Contact

First name*
Last name*
Email*
Phone number*
Other language