Dialog Box


Gene therapy trial update from Abeona

March 2, 2019







On Rare Disease Day (28 February), Michelle Berg, Vice President, Patient Affairs and Community Engagement at Abeona Therapeutics wrote to Sanfilippo Foundations around the world to give an update on their Sanfilippo gene therapy programs. She summarised recent changes to the design of the ongoing Sanfilippo type A and B trials and reported on progress towards starting a new trial – ABT-003 which will include children with more advanced disease progression. Please read on for further details.

ABT-001: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA

Abeona met with both FDA and EMA regarding the progress to date on ABT-001, and it was decided that the eligibility criteria in ABT-001 Phase 1/2 study will be modified to enrol additional patients with greater function or who have experienced less neurologic decline. The listing in for this study is now revised with the following modifications. Those interested or with questions should contact their child's physician to determine eligibility.

•      Inclusion criteria has been adjusted to include Age 6 months to 2 years or children older than 2 years with a minimum cognitive DQ of 60 or above calculated by Bayley Scales of Infant and Toddler Development 
•      Total number of anticipated participants adjusted from 16 to 22. This means enrolment is continuing across sites for a total of up to 8 more participants in Cohort 3.
•      Study completion date changed to Dec 2021 (from Dec 2020) to account for additional participants
•      Exclusion criteria has been modified to account for:
o      Previous treatment by HSCT or participation in gene/cell therapy or ERT clinical trial
o      Any vaccination with viral attenuated vaccines less than 30 days prior to scheduled date of treatment
o      Subjects with positive response for the ELISPOT for T-cell responses to AAV9
•      In addition to a primary outcome of safety, the change from baseline in the Age Equivalent Developmental Score (MSEL or Kaufman) compared with natural history study data will be measured  
•      Additional secondary outcomes have been incorporated which include:
o      Change from baseline in the Cognitive Age Equivalent compared to natural history study, calculated using Bayley Scales of Infant and Toddler Development
o      PedsQL total score
o      Parent quality of life, using a tool called the Parenting Stress Index
o      Analysis in plasma, saliva, urine, feces of vector shedding
•      For outcomes already listed on – change to 24 month timeframe (currently lists 12 months) 
More information about the current Sanfilippo type A trial can be found here:

ABT-003: Additional Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIA and have further disease progression

As a result of the changes outlined above, Abeona has adjusted the additional planned trial, ABT-003, to complement ABT-001 and to investigate the effects of ABO-102 in eligible patients with more progressed or increased neurological impact of the disease.

•      Enrolment criteria to complement upper limits for ABT-001 for no eligibility gap between these two studies
•      Inclusion/exclusion criteria and number of participants are not yet available for release
•      Protocol submission to regulatory agencies is imminent for Spain, Australia, and the United States
•      In parallel, preparations with sites in Spain, Australia, and the United States are well underway and will be limited to these countries
•      Currently, it’s not certain which country will be ready first but Abeona will not wait for all three to initiate enrolment
•      More information will be provided as available



ABT-002: Ongoing Phase 1/2 Clinical Trial for ABT-102 gene therapy for individuals diagnosed with MPS IIIB

This study is still early with participants with safety as the highest priority followed by getting data to inform on dose. There have been recent updates to the listing for this study, summarized below:
•      Updated Responsible Party and main contact as Abeona
•      Added exclusion criterion of treatment with prior ERT
•      Modified age criteria for enrolment to 6 months and above
•      Removed secondary endpoint of change in brain volume by MRI
•      Added Spain as an active clinical site
•      Efforts continue to initiate sites in UK, Germany, and France

More information about the current Sanfilippo type B trial can be found here:

You may have already read the news that João Siffert, M.D. has been appointed as Abeona’s CEO after serving as the interim-CEO for several months. For the time, he will continue to serve also as head of Research and Development and Chief Medical Officer.

Category: Research News