Abeona plans to add clinical sites for the trial in three European countries, including France, Germany, and the United Kingdom. Those who are interested can find more information about the trial here.
“The authorization of our ABO-101 trial in Spain is a significant milestone for children suffering from mucopolysaccharidosis (MPS) IIIB [Sanfilippo syndrome type B], a devastating and deadly disease with no approved treatment options,” Carsten Thiel, PhD and CEO at Abeona Therapeutics, said in a press release.
ABO-101 is Abeona’s first-in-human gene therapy for Sanfilippo syndrome, designed to deliver a functioning copy of the N-acetyl-α-D-glucosaminidase (NAGLU) gene, which is mutated in the disease, using a harmless adeno-associated viral (AAV) transporter.
The NAGLU gene provides instructions to build an enzyme that is responsible for breaking down large sugar molecules, called glycosaminoglycans (GAGs).
Because this enzyme does not function correctly in Sanfilippo patients, an accumulation of toxic waste material, specifically heparan sulfate — one of the major types of GAGs — takes places in cells and tissues throughout the body.
Participants enrolled in the Phase 1/2 trial will receive a single, intravenous injection (administered through a catheter inserted into a vein) of either high- or low-dose ABO-101 and will be evaluated at multiple time points for assessments of the treatment’s safety and effectiveness.
Safety parameters include the occurrence of treatment-related adverse events. Efficacy measurements include reduction of GAG levels in the cerebrospinal fluid, plasma or urine; increase in NAGLU enzyme activity; reduction in liver and spleen volumes and brain volume loss, detected by MRI; and improvements in muscular and cognitive functions, using validated scale systems.
Preliminary data from the trial (NCT03315182), which first began in the United States, has shown encouraging results, with the first patient tolerating the treatment well and no treatment-related adverse events or serious adverse events occurring at 30 days after treatment.
The patient also showed significant heparan sulfate reductions in cerebral spinal fluid, urine, plasma and urinary total GAG.
“We are encouraged by the preliminary results observed in our U.S. trial to date, both in clinically relevant biomarkers and in the ongoing safety profile, and are excited to bring this therapy to patients in Europe,” Thiel said.
This will be Abeona’s second trial conducted in Europe, alongside the ongoing Phase 1/2 study (NCT02716246) for patients with Sanfilippo syndrome type A.