A rare condition, a small group of families, and one therapy to fund.
SPG52 is a rare genetic condition in which a child is born without a working copy of the AP4S1 gene, one of four parts of a cell machine called AP-4. Without it, the long nerve fibres that carry movement signals to the legs slowly degenerate, so babies who start out floppy become children with stiff legs, delayed speech and, often, fever-triggered seizures. There is no treatment yet that stops it, and about 50 to 55 children are known worldwide.
One therapy. One global effort. Families in every country are funding the same gene therapy program.
What this site is
Plain-words information about SPG52 drawn from the published research, with every number traced to its source. A practical plan for newly diagnosed families. An honest picture of where gene therapy stands for the four AP-4 conditions. And the two ways to give.
It is run by families, not by the research team. For the gene therapy program's official status, the UAB page is the source of truth.
What this site is not
Not medical advice: bring anything here to your child's doctors. Not a registry: no child is named, and the map shows only country and age band. Not a research update feed: when the UAB team publishes, we link to it rather than paraphrase it.