Rare Disease Report

BioBlast's Trehalose Stabilizes Spinocerebellar Ataxia Symptoms

JANUARY 17, 2017
James Radke, PhD
Bioblast Pharma announced results of a 6-month open label Phase 2a study testing trehalose in patients with Spinocerebellar Ataxia Type 3 (SCA3). And so far, the drug has been able to stabilize this devastating neurodegenerative disease.
The study found that patients remained stable over the 6-month period with no change on the Scale for Assessment and Rating of Ataxia (SARA) score. The average SARA score at baseline was 10.37 and after 26 weeks, the average score was 10.25. Fourteen patients have been evaluated in the study.
Data on 5 of the 14 patients who continued to take trehalose for an additional 6 months at the end of the study also showed the SARA scores remained stable.
The SARA scale is made up of eight measurements related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test. Natural history studies indicate that untreated SCA3 patient would expect to show an average increase in their SARA score of 1.56 over the course of 1 year as their disease progresses.  
In a news release, Warren Wasiewski, MD, Bioblast’s Chief Medical Officer said:
“The stability of the patients in terms of their SARA scale scores during the 6-month study period was promising, given the steadily worsening nature of the disease.  It was also encouraging to see that patients who continued beyond the initial treatment period maintained stable SARA scores as well.”
Dr  Wasiewski added:
“In a relentlessly deteriorating neurological disease such as SCA3, one needs to show a slowing or halting of progression to be considered clinically meaningful. The outcomes from this trial provide valuable information that will assist in the design of a second clinical trial using trehalose in SCA3 patients.”
Susan Perlman, MD, Clinical Professor of Neurology and the Director, Ataxia Center and HD Center of Excellence at the David Geffen School of Medicine at UCLA noted:
“Given that the natural history controls would have predicted a worsening in the SARA score, the fact that the average of the patients over 6-12 months did not show worsening is encouraging. Corroboration of this result in a double-blind, placebo-controlled study in a larger number of patients would be an appropriate next step in determining the value of trehalose in SCA3.”
The most common adverse event in the Phase 2a SCA3 study was transient and benign glucosuria, lasting for a few hours after infusion of trehalose.

Spinocerebellar Ataxia Type 3 (SCA3)

SCA3, also known as Machado-Joseph disease, is the most common form of hereditary cerebellar ataxias and characterized by ataxia, spasticity, difficulty with speech and swallowing, weakness in arms and memory deficits. Symptoms can begin in early adolescence and get worse over time. Eventually SCA3 leads to paralysis, and severe cases can lead to an early death in the fourth decade of life.


Trehalose is a low molecular weight disaccharide that protects against pathological processes in cells. It has been shown to penetrate muscle and cross the blood brain barrier. It is being developed by BioBlast Pharma for the treatment of SCA3 and oculopharyngeal muscular dystrophy.

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