Spastic Paraplegia-52 (SPG52) is an ultra-rare genetic disorder caused by mutations in the AP4S1 gene, which disrupts how neurons transport proteins.
This disruption affects brain development and movement, causing progressive disability.
Fewer than 60 children worldwide are known to have SPG52.
Because it’s so rare, there are no approved treatments and very little research funding. Families themselves must raise money to advance the science.
Children often miss developmental milestones like crawling, walking, or speaking.
Most experience:
Severe developmental delays
Intellectual disabilities
Little or no speech
Seizures
Spasticity (muscle stiffness/tightness)
Eventual loss of walking and use of arms/hands
Without treatment, daily life means therapies, hospital visits, and watching abilities decline.
Researchers at the Universitat Autònoma de Barcelona (UAB) have spent 6 years developing a gene therapy for SPG52.
They’ve already:
Built a mouse model that mimics the disease.
Created a gene therapy vector carrying a healthy copy of the AP4S1 gene.
Shown it works in mice and in neurons grown from patient stem cells.
The science is real, and the therapy is nearly ready for children.
Gene therapy treats disease by fixing, replacing, or switching off the genes that cause it. Doctors deliver new genetic instructions into a person’s cells. The cell reads those instructions and makes the right protein, or stops making a harmful one.
SPG52 is caused by harmful changes in the AP4S1 gene. A gene-replacement approach would deliver a functional AP4S1 to restore the missing AP-4 protein function in key cells.
Gene therapy targets the root cause, not just symptoms. One treatment can have long-lasting effects because cells keep using the new instructions, however it will not undo damage that has already happened - and that's why time is critical.
Yes, gene therapy has achieved success in treating certain genetic disease such as Sever Combined Immune Deficiency (SCID), Huntington's Disease, Sickle Cell Anemia, Wiskott-Aldrich Syndrome, among others.
Gene therapy is a rapidly evolving field with the potential to treat a wide range of genetic diseases. As research progresses, it is expected that gene therapy will become even more successful and accessible to patients.
More close to home, a parallel project, Melpida, developed by the Pirovolakis family for a similar disorder (SPG50), successfully reached clinical trials in just three years — entirely through grassroots fundraising.
Early results from SickKids Hospital in Toronto show disease progression has stopped and motor skills improved in the first treated child.
Melpida’s success shows what’s possible when communities unite.
Before children can be treated, regulators require safety and toxicity studies in primates.
These studies are essential but costly.
Every dollar raised directly supports:
Toxicology and safety studies
Regulatory submission to Spain’s AEMPS
Manufacturing of clinical-grade viral vector
Launch of the first-ever human SPG52 trial
No pharmaceutical company is investing in research because there’s no commercial market. That means the families of SPG52 patients themselves must raise the money to drive progress.
A parallel project, Melpida, developed by the Pirovolakis family for a similar disorder (SPG50), successfully reached clinical trials in just three years — entirely through grassroots fundraising.
There are many families of SPG52 patients that are fundraising to support the same gene therapy research:
Irina - Romania
https://www.facebook.com/profile.php?id=61573956416205
Samuel - Spain
https://www.facebook.com/corropormarinaysamuel
Abril - Spain
https://www.laluchadeabril.net/
Helia - Spain
https://www.instagram.com/unrayodeluzparahelia/
https://unrayodeluzparahelia.org/
It is managed transparently with nonprofit collaboration.
Donations go directly into a "project" on GoFundMe Pro sponsored by the non-profit Rare Village. Once directed, Rare Village will release the funds only to the designated location, the UAB research team and clinical partners directly working on SPG52 gene therapy.
Yes. In thanks to the Rare Village Foundation and GoFundMe Pro, you can make a tax-deductible donation.
You will receive a receipt to the email address you provide when donating. The receipt will include your donation details, such as the date, amount, and any beneficiary information.
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Donate! Every. single. dollar. counts. towards a guaranteed gene therapy. It's not a matter of IF, but *when* we have the funds, and making *when* happen *as fast as possible* is most crucial for Leo.
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