The GAIN-CTNNB1 gene therapy clinical trial has officially started. For the first time, children with CTNNB1 syndrome are receiving a treatment developed specifically for this condition.

For families who have lived for years without any treatment options, this trial represents hope that did not exist before.

The trial is led and sponsored by the CTNNB1 Foundation, a patient-driven, non-profit organization, following several years of research, preclinical development, and regulatory preparation in collaboration with international academic and clinical partners.

This work was driven by families who refused to accept that nothing could be done.

On December 10, 2025, the first child with CTNNB1 syndrome was treated within the GAIN-CTNNB1 clinical trial. The treatment was well tolerated, and the patient is recovering well.

This is the first clinical use of a gene therapy developed for CTNNB1 syndrome.

The CTNNB1 Foundation is conducting this clinical trial without commercial funding partners. The Foundation has covered the costs related to therapy development and manufacturing, as well as trial preparation.

Despite this, the costs associated with treating each patient in the clinical trial remain significant. As a non-profit organization, the Foundation is committed to keeping the program patient-centred and ensuring that access to the trial is not determined by a family’s financial situation.

For this reason, the Foundation fundraises for each additional patient selected for participation by an independent ethics committee. The goal of this fundraiser is to ensure that children selected for the GAIN-CTNNB1 clinical trial are not excluded due to financial limitations.

Every child selected deserves the same chance.

Mafalda

We are currently raising funds for Mafalda, a child from Portugal with CTNNB1 syndrome.

Like many children with CTNNB1 syndrome, Mafalda lives with severe developmental challenges that affect every aspect of daily life. She cannot walk or speak and, without treatment, will never be able to live independently.

Mafalda and her family are planning to travel to Slovenia in May so that she can participate in the GAIN-CTNNB1 clinical trial. The costs associated with international clinical trial participation are significant and are not covered by most health systems.

For her family, this trial represents a single opportunity that may not come again.

This fundraiser supports Mafalda’s participation and helps cover trial-related expenses.

Your support allows her parents to focus on their child, not on how to pay for access to care.

How to support

If you would like to support Mafalda and her family:

Instagram: https://www.instagram.com/mafaldinha.voavoa
Facebook: https://www.facebook.com/groups/mafaldinhavoavoa

Donations can also be made via GoFundMe:
https://www.gofundme.com/f/terapia-genetica-para-a-cura-do-sindrome-ctnnb1

GAIN CTNNB1 Clinical Trial Candidate

By CTNNB1 gene therapy foundation

GAIN CTNNB1 Clinical Trial Candidate

Help Fundraise for the Next GAIN CTNNB1 Clinical Trial Candidate