Newly discovered ataxia SCA27B shows promising response to a treatment - Ataxia UK

Newly discovered ataxia SCA27B shows promising response to a treatment

Post Published: May 31, 2023

Late-onset spinocerebellar ataxia 27B (SCA27B) is newly discovered ataxia which is caused by a mutation in a gene called fibroblast growth factor 14 (FGF14). This discovery may lead to more diagnoses for people with ataxia of unknown cause. It is a late onset ataxia and, in some people, the condition starts with episodes of ataxia. To find out more about SCA27B click here.

A paper was recently published which showed that treatment with the drug 4-aminopyridine (4-AP) led to reduced daily symptoms and symptom severity in people with SCA27B. The mechanism of how this might work in SCA27B is not fully understood, but the researchers propose that 4-AP, which blocks potassium channels, could compensate for a problem with brain cells in the cerebellum transmitting signals.

This finding was part of a larger study, which looked at the symptoms and progression of people with SCA27B in Germany. The researchers found that six out of seven people in the study who had received 4-AP treatment (86%) reported a response to the treatment that was relevant to their everyday living. In 3 participants, the researchers looked at the differences in symptoms when participants were ‘on’ the treatment versus when they were ‘off’ the treatment. During periods ‘on’ the treatment, reductions in the time experiencing symptoms per day and in the number of days affected by severe symptoms were reported. When participants went ‘off’ the treatment, the beneficial effect of 4-AP went away. The results suggest that 4-AP is more likely a drug that alleviates symptoms, rather than one that affects disease progression.

In this study only a very small number of people were treated, and the effectiveness of the drug was not compared with taking a placebo. Therefore, a larger trial with comparison against a placebo would be the next step needed to test the drug’s effectiveness.

The abstract of the scientific paper can be found here.

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