Cure AP-4, 10 Fanaras Drive, Salisbury, MA (2026)

AP-4-associated Hereditary Spastic Paraplegia is a group of four closely related neurodegenerative disorders caused by autosomal recessive inheritance of mutations in the Adapter Protein-4 genes. Children afflicted with this genetic disorder generally present with symptoms including developmental delay, microcephaly, seizures, malformation of the brain, and hypotonia (low-muscle tone). Those who d

o attain speech

They often learn to walk by the age of two and then lose that ability a few months or years later as they develop hypertonia (high-muscle tone) and muscle spasticity. Patients gradually lose mobility in some or all extremities and are moderately to severely intellectually challenged. The Cure AP-4 non-profit organization was originally founded as Cure SPG47 in 2016 by the parents of the two children affected and expanded to include all AP-4-associated HSPs in 2019. We refuse to accept the bleak prognosis which our children face. We have decided to fight. The purpose of this organization is to study and seek a cure for AP-4-associated HSP.

05/05/2026

We are excited to launch our first ever nationwide DREAM BIG SWEEPSTAKES where you can win a $20k dream vacation to Disney (or $15k in cash if you prefer)! You may enter for free or choose to donate as little as just $1 for a chance to win. All donations received will support human clinical trials for an SPG47 Gene Therapy treatment at Boston Children's Hospital. Please share the link with your network!

https://givebutter.com/curespg47-dream-big-sweepstakes

01/28/2026

If you are a family wishing to attend the Cure AP-4 annual research conference this Friday, and you have not received a meeting agenda, it is because we do not have your email address. Please contact me - thank you!

01/22/2026

Please help us raise $2m by the end of Feb 2026!

Several motivated SPG47 families have been working tirelessly to reach a fundraising goal of $2m in 3 months. The money is needed for an initial fundraising milestone in the first ever human clinical trial for an experimental gene therapy treatment for the ultrarare disease known as Hereditary Spastic Paraplegia, subtype 47 ("SPG47"). The goal of the trial is to treat 5 children under the age of 5 with the AAV9 based gene therapy treatment developed by Dr. Mimoun Azzouz at the University of Sheffield, UK. The treatment has proven extremely effective in SPG47 mice and human cellular models, especially when administered early.

The gene therapy program has already undergone safety testing in non-human primates, vector manufacturing is complete, Boston Children's Hospital has agreed to conduct the trial, and the FDA has approved it to begin once adequate funding is available. Funds raised by SPG47 families around the world will be received by Cure SPG47, and invested with (BlackfinBio) - the commercial sponsor of the trial. The overall trial costs are estimated at $4-5m USD. It is our objective that raising this initial $2m will help to attract the remaining capital needed to complete the trial from investors and other sources.

Thank you for considering making a contribution to the effort!

https://cureap4.org/progress.php

12/10/2025

As we look back on this journey since 2017, we are filled with nothing but gratitude. Every step forward, every breakthrough, every moment of hope, we owe so much to this amazing community. Your generosity, your belief in our mission, and your unwavering support have carried us through the darkest moments and lifted us toward the brightest ones.

Because of this community, we are now nearing the finish line of something once thought impossible: launching a human clinical trial for SPG47 at Boston Children's Hospital. This milestone isn’t just scientific progress; it’s a lifeline for our children, our families, and everyone who has been touched by this ultra-rare disease.

The final piece of the puzzle is within reach. We’re working to raise the remaining funds needed to officially open the door to this trial. With your continued support, we can take this last step together.

From the bottom of our hearts—thank you. Thank you for standing with us, believing in us, and pushing this mission forward. We are forever grateful, and we cannot wait to share the day we say: “The trial has begun.”

To learn more about our recent progress, please check out our 2025 Annual Report.

Check out this design designed by Kevin Duffy.

Address

10 Fanaras Drive
Salisbury, MA
01952

Website

http://cureap4.org/

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