Status:

TERMINATED

Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB

Lead Sponsor:

Abeona Therapeutics, Inc

Conditions:

Mucopolysaccharidosis Type 3 B

Eligibility:

All Genders

Phase:

PHASE1

PHASE2

Brief Summary

Open-label, dose-escalation clinical trial of rAAV9.CMV.hNAGLU injected intravenously through a peripheral limb vein

Detailed Description

Adeno-associated virus serotype 9 carrying the human NAGLU gene under the control of a CMV enhancer/promoter (rAAV9.CMV.hNAGLU) will be delivered one-time through a venous catheter inserted into a per...

Eligibility Criteria

Inclusion

  • Confirmed diagnosis of MPSIIIB by both of the following two methods:
  • No detectable or significantly reduced NAGLU enzyme activity by plasma.
  • Genomic DNA analysis demonstrating homozygous or compound heterozygous mutations in the NAGLU gene
  • Age: From Birth to 2 years or children older than 2 years with a minimum cognitive Development Quotient (DQ) of 60 or above (calculated by Bayley Scales of Infant and Toddler Development - Third Edition)

Exclusion

  • Inability to participate in the clinical evaluation as determined by Principal Investigator
  • Identification of two nonsense or null variants on genetic testing of the NAGLU gene
  • Has evidence of an attenuated phenotype of MPS IIIB
  • Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics
  • Active viral infection based on clinical observations as infections by Adenoviruses, Epstein-Barr Virus, Cytomegalovirus, Respiratory Syncytial Virus
  • Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer , or precludes the child from participating in the protocol assessments and follow up as autoimmune diseases requiring immunosuppression, such as juvenile rheumatoid arthritis or idiopathic thrombocytopenia purpura
  • Subjects with total anti-AAV9 antibody titers ≥ 1:100 as determined by ELISA binding immunoassay
  • Subjects with a positive response for the ELISPOT for T-cell responses to AAV9
  • Serology consistent with exposure to HIV, or serology consistent with active hepatitis B or C infection
  • Bleeding disorder or any other medical condition or circumstance in which a lumbar puncture (for collection of CSF) is contraindicated according to local institutional policy
  • Visual or hearing impairment sufficient to preclude cooperation with neurodevelopmental testing
  • Uncontrolled seizure disorder
  • Any item (braces, etc.) which would exclude the subject from being able to undergo MRI according to local institutional policy
  • Any other situation that precludes the subject from undergoing procedures required in this study
  • Subjects with cardiomyopathy or significant congenital heart abnormalities
  • The presence of significant non-MPS IlIB related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study
  • Abnormal laboratory values Grade 2 or higher as defined in CTCAE v4.0 for GGT, total bilirubin, creatinine, hemoglobin, WBC count, platelet count, PT and aPTT
  • Female participant who is pregnant or demonstrates a positive urine or serum result at screening assessment (if applicable).
  • Any vaccination with viral attenuated vaccines less than 30 days prior to the scheduled date of treatment (and use of prednisolone)
  • Previous treatment by Haematopoietic Stem Cell transplantation
  • Previous participation in a gene/cell therapy or ERT clinical trial

Key Trial Info

Start Date :

October 16 2017

Trial Type :

INTERVENTIONAL

Allocation :

ACTUAL

End Date :

April 7 2022

Estimated Enrollment :

11 Patients enrolled

Trial Details

Trial ID

NCT03315182

Start Date

October 16 2017

End Date

April 7 2022

Last Update

May 5 2022

Active Locations (4)

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Page 1 of 1 (4 locations)

1

Nationwide Children's Hospital

Columbus, Ohio, United States, 43205

2

Armand-Trousseau Hospital

Paris, France

3

University Hospital Hamburg-Eppendorf

Hamburg, Germany

4

Hospital Clinico Universitario de Santiago

Santiago de Compostela, Spain, 15706