Last year, the U.S. Food and Drug Administration (FDA) approved the first clinical trial of a new gene therapy for SPG47. Everything was ready to begin. However, the study is currently on hold due to a lack of funding.

The Samen voor Sietse Foundation is working to raise the necessary funds so that this research can resume as soon as possible. 

What is SPG47?

SPG47 is caused by a genetic mutation. Due to this error, important proteins in the brain and nerves are not delivered to the correct locations. This mainly affects long nerve pathways responsible for movement and brain areas involved in language and cognition, leading to:

• developmental delay
• learning and comprehension difficulties
• delayed speech or little/no speech
• epileptic seizures
• progressive spasticity (stiff muscles)

There is currently no treatment that can stop the disease.

What needs to happen? 

The gene therapy targets the underlying cause of the disease. The treatment consists of a one-time injection into the cerebrospinal fluid containing a healthy copy of the gene. This enables the child’s cells to produce the correct protein again. It is the first therapy for SPG47 approved for testing in humans. 

For children with SPG47 and their families, this study represents a unique opportunity. Science is ready, but without funding the trial cannot move forward. 

What does the Samen voor Sietse Foundation do? 

The foundation is committed to research into HSP AP-4–associated disorders, including SPG47. Its primary goal is to ensure that the gene therapy study in children can begin.

Life4HSP currently has no independent initiatives related to AP-4 variants and therefore supports the visibility of the Samen voor Sietse campaign. Together, we can make progress.

At www.samenvoorsietse.nl you can find more information 

Every contribution brings the start of the study closer.