Gene transfer clinical trial for Mucopolysaccharidosis IIIB
- Conditions
- MPS IIIB is a devastating lysosomal storage disease, caused by a N-a-acetylglucosaminidase (NAGLU) gene defect. Infants with MPS IIIB appear normal at birth, but the disease is relentlessly progressive, with deterioration of social and adaptive abilities, neurocognitive decline, and premature death. Death typically occurs by end of the second or beginning of the third decade. Quite importantly, there is no treatment currently available for the disease.Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Registration Number
- EUCTR2014-001411-39-ES
- Lead Sponsor
- Abeona Therapeutics Inc
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- All
- Target Recruitment
- 9
1. Age 6 months old or greater
2. Confirmed diagnosis of MPS IIIB by both of the following methods:
a. No detectable or significantly reduced NAGLU enzyme activity by plasma, serum, or leukocyte assay.
b. Genomic DNA analysis demonstrating homozygous or compound heterozygous mutations in the NAGLU gene
3. Clinical history or examination features of neurologic dysfunction
Are the trial subjects under 18? yes
Number of subjects for this age range: 9
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 1
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range
1. Inability to participate in the clinical evaluation as determined by principal investigator
2. Identification of two nonsense or null variants on genetic testing of the NAGLU gene, as judged by the principal investigator
3. Prior treatment with NAGLU enzyme replacement therapy (ERT)
4. Has evidence of an attenuated phenotype of MPS IIIB, as judged by the principal investigator
5. Presence of a concomitant medical condition that precludes lumbar puncture or use of anesthetics
6. Inability to be safely sedated in the opinion of the clinical anesthesiologist
7. Active viral infection based on clinical observations
8. Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer
9. Subjects with anti-AAV9 antibody titers = 1:100 as determined by ELISA binding immunoassay
10. Serology consistent with exposure to HIV, or serology consistent with active hepatitis B or C infection
11. 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
12. Visual or hearing impairment sufficient to preclude cooperation with neurodevelopmental testing
13. Uncontrolled seizure disorder, due to the requirement for multiple MRI examinations as part of the study protocol. Subjects who are stable on anticonvulsive medications may be included
14. Any item (braces, etc.) which would exclude the patient from being able to undergo MRI according to local institutional policy
15. Any other situation that would exclude the patient from undergoing any other procedure required in this study
16. Subjects with cardiomyopathy or significant congenital heart abnormalities
17. 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
18. 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
19. Female participant who is pregnant or demonstrates a positive urine or ?hCG result at screening assessment (if applicable).
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method