One paragraph
SPG52 is an ultra-rare genetic condition, with about 50 to 55 children known worldwide, in which a child is born without a working copy of the AP4S1 gene. The long nerve fibres that carry movement signals to the legs slowly degenerate: babies who start out floppy become children with stiff legs, delayed speech and often fever-triggered seizures, and most need a wheelchair by around age nine. There is no treatment that stops it. The only gene therapy program for SPG52 is at the Universitat Autònoma de Barcelona, and it is being funded by families in more than a dozen countries. curespg52.com is run by those families to explain the condition in plain words, guide newly diagnosed parents through the first months, and show the two ways to give: in the United States through a fiscally sponsored 501(c)(3) fundraiser with tax-deductible receipts, and anywhere in the world directly to the university.
Checkable facts
- About 43 confirmed cases in the medical literature as of 2025; 50 to 55 known children per the Barcelona team. Sources on the about page.
- Four AP-4 conditions (SPG47, SPG50, SPG51, SPG52) share one phenotype; the SPG50 gene therapy is in a Phase 3 trial, SPG47's is cleared but not yet recruiting, SPG52's is preclinical. Details on the gene therapy page.
- Official status of the SPG52 program: UAB's page. We are not the research team; please contact UAB's press office for the science.
Logo
The mark is a ring of four arcs, one for each AP-4 subunit; the dashed arc is the missing one. Use it on a plain background, do not recolour it, and keep clear space around it equal to the ring's thickness.
Photos
No photo of any child is published or supplied without the written consent of that child's parents or guardians, given for a stated use. We do not currently have consented photos to share. If a family agrees to be featured, we will connect you directly, and the photo consent text sets out what they are agreeing to.
Contact
hello@curespg52.com, or the contact form. We are parents with day jobs; please allow a few days.