I have Hereditary Spastic Paraplegia-52, or SPG52, an extremely rare neurodegenerative disorder.
A gene therapy cure is almost ready for clinical trail - but it can't move forward without funding.
Me and my friends need your help to make it a reality before it's too late!
Thank you for giving us hope for a brighter future!
What is SPG52?
Spastic Paraplegia 52 is extremely rare neurodegenerative disorder that affects children. The disorder causes:
global developmental delay
significant intellectual disabilities
poor or absent speech
seizures
progressive spasticity (stiffness) in limbs
It slowly takes away the child's ability to walk, then potentially the use of their arms and hands.
Origin
SPG52 is caused by a mutation of the AP4S1 gene, which provides instructions for making a component of the AP-4 protein complex that is crucial for brain development.
Prevalence
It is one of the four types of AP-4 protein complex hereditary spastic paraplegia (HSP).
There are 56 confirmed cases of SPG52 and 150 of AP-4 HSP in the world.
Treatment
Current focus is on managing symptoms and providing supportive care, as there is no cure for the condition ...yet.
Where the Research Stands
The research team at Universitat Autònoma de Barcelona (UAB) has developed a gene therapy approach for SPG52.
They have completed the first preclinical trials in cell models and mice. These studies show that the gene therapy can correct faulty neuronal signaling, improve motor coordination, and restore neural-to-muscle communication.
They are now in the process of designing safety and toxicity studies. After these studies, they will request regulatory approval from the Spanish Agency for Medicines and Health Products to begin a clinical trial.
In short: we are nearing the threshold for a human trial. But we need funds now to cross it.
Only $215,000 Left to Fund Phase 3!
