New Medicines

ABO-101 Mucopolysaccharidosis IIIB (MPS IIIB - Sanfilippo syndrome)


Advanced therapy medicinal product (ATMP)
Abeona Therapeutics
Abeona Therapeutics

Development and Regulatory status

Phase II Clinical Trials
Phase II Clinical Trials
Apr 19FDA grants Fast Track status for treatment of Sanfilippo syndrome type B [5].
Oct 17Enrolment initiated in PI/II clinical outcome study NCT03315182, the first patient being dosed in Dec 17 [5].
Jan 17Granted orphan drug status in the EU [3].
May 15Granted rare paediatric disease designation by the US FDA for treatment of Sanfilippo syndrome types A and B [2].
May 14Granted orphan drug designation by the US FDA for Sanfilippo syndrome types A and B [2].


Adeno-associated viral (AAV)-based gene therapy. A genetically modified virus that delivers a normal copy of the defective gene to cells of the central nervous system (CNS) and peripheral organs with the aim of reversing the effects of the genetic errors
Mucopolysaccharidosis III is considered the most common of the mucopolysaccharidosis genetic disorders, occurring with an incidence of 1 in 70,000 newborns. Sanfilippo syndrome results from the deficiency or absence of 4 different enzymes that are necessary to degrade the GAG heparan sulfate. Each enzyme deficiency defines a different subtype of Sanfilippo syndrome, as follows: type IIIA (Sanfilippo A), type IIIB (Sanfilippo B), type IIIC (Sanfilippo C), and type IIID (Sanfilippo D) [1].
Mucopolysaccharidosis IIIB (MPS IIIB - Sanfilippo syndrome)

Trial or other data

Dec 19NCT03315182 - no UK trial sites [8]
Jan 19Eligibility has been expanded to minimum age 6 months, and recruitment expanded to Spain. Estimated primary completion now October 2020 [6].
Jan 17PI/II study (NCT03315182) is an open-label dose-escalation trial that is enrolling 9 children or adults aged 2 years and older from the Nationwide Childrens Hospital in Ohio, USA. Collection of primary outcome data (toxicity and safety) is expected to complete in Dec 19. Secondary outcomes include improved adaptive functioning, or arrest of decline in adaptive functioning at 6 and/or 12 months, as assessed by parent report using the Vineland Adaptive Behavior Scale; improved cognitive ability or arrest of cognitive deterioration at 6 and/or 12 months after treatment, as measured by direct testing of the child using the Leiter International Performance Scale and the Mullen Scales of Early Learning; reduction of urine glycosaminoglycans or heparan sulfate at 6 and/or 12 months after treatment [4].
Jan 17Abeona Therapeutics announces it is just weeks away from enrolling the first patients in a trial of its gene therapy for the lysosomal storage disease Sanfilippo B. The decision to move ahead with clinical trials for ABO-101 comes after its co-lead program, ABO-102 for related lysosomal storage disease Sanfilippo A/MPS IIIA, showed promising initial data in a phase 1/2 trial. Additional results from that trial are due to be presented on Feb. 16 at the WORLDSymposium for Lysosomal Storage Diseases in San Diego, and will likely include six-month data on neurocognition in two of three patients from a low-dose cohort plus initial results from the first patient in a higher-dose cohort. If the results are positive, the company intends to move swiftly ahead with discussions with the FDA, aiming to get a breakthrough designation and agree to a design for a registration trial [3].