There are no cures or treatments available for people with hereditary spastic paraplegia (HSP) type 56, or SPG56. While the current standards-of-care focus on symptom relief and mobility assistance, patients and researchers are looking for a more targeted treatment that can potentially stop neurodegeneration in its tracks—or at least preserve movement capabilities.
In an article in News Medical, Emily Henderson discusses how researchers in Australia are working to develop potential gene therapy solutions for HSP type 56. More specifically, a University of Queensland research team is developing organoids—laboratory-grown 3D structures made from patient cells or tissue—to identify therapeutic solutions.
These organoids are grown using brain tissue sourced from children with SPG56. Interestingly, the laboratory can grow multiple organoids for each specific patient; in this study, the research team is creating hundreds of these structures for each. This allows for both more broad and nuanced research. On one hand, researchers can test various gene therapies across multiple organoids, understanding its applicability. Then, on a more targeted level, the research team can identify exactly what forms of gene therapy might work for each patient.
Ultimately, the researchers hope to show how organoids can be used in medical research and therapeutic development, and encourage further testing and research in the future.
This study is funded through a nearly $1M MRFF grant.
An Overview: Hereditary Spastic Paraplegia (HSP)
Also known as hereditary spastic paraparesis, familial spastic paraplegia/paraparesis, and Strumpell disease (among others), hereditary spastic paraplegia refers to a group of inherited neurological disorders. There are over 80 different HSP subtypes due to a variety of gene mutations. These subtypes tend to share one primary symptom: muscle weakness and tightness (spasticity) in the lower legs that causes movement difficulties and difficulty walking. Other symptoms, which may appear between 11-40 years old, can include:
- Poor balance and coordination
- Changes in urinary urgency or frequency
- A gait with a shifted heel strike, reduced foot dorsiflexion, and a short stride length
- Impaired vision and cognition
- Muscle spasms in the back and legs
- Hyperactive reflexes
- Babinski’s reflex
- Peripheral neuropathy
Generally speaking, people with HSP do not have a shorter lifespan. Treatments include physical therapy, orthotic support, exercise, and muscle relaxants.