An Open-Label study with only one arm of treatment that will be carried out in different international sites of Intracerebral Administration of study drug for the Treatment of Sanfilippo syndrome type A

Recruitment & Eligibility

Status: ot Recruiting

Sex: All

Target Recruitment: 20

Inclusion Criteria

1. Documented MPS IIIA diagnosis based on genotyping confirming the SGSH gene mutations
2. Age = 30 months at screening (main cohort) or = 24 months and < 30 months (ancillary cohort)
3. Cognitive DQ score on BSID-III = 50%
4. Signed written informed consent before any study related procedure is performed
5. Medical status sufficiently stable, in the opinion of the Investigator, to adhere to the study visit schedule and protocol procedures.
6. Confirmation by the study neurosurgeon and anesthesiologist of the feasibility of the neurosurgical procedure.

Are the trial subjects under 18? yes
Number of subjects for this age range: 20
F.1.2 Adults (18-64 years) no
F.1.2.1 Number of subjects for this age range
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

1. Homozygous for the S298P mutation or non-severe form of MPS IIIA, based on investigator judgement
2. Past participation in another gene or cell therapy clinical trial
3. Past use of SGSH enzyme replacement therapy for a cumulative period exceeding 3 months. In addition, a washout period of at least 2 months is required prior to screening
4. Current participation in a clinical trial of another investigational medicinal product.
NOTE: Nutritional supplements, including Genistein, are permitted if they are taken outside the context of an investigational trial
5. History of bleeding disorder or current use of medications that, in the opinion of the investigator, place them at risk of bleeding following surgery
6. Presence of concomitant medical condition precluding lumbar puncture
7. Presence of any item (e.g., metal braces) precluding undergoing MRI
8. Any condition that would contraindicate treatment with immunosuppressants such as tacrolimus, mycophenolate mofetil or steroids
9. History of significant non-MPS IIIA related CNS impairment or behavioral disturbances that would confound scientific rigor or interpretation of results
10. Rare and unrelated serious comorbidities, e.g., Down syndrome, intraventricular hemorrhage in the new-born period, or extreme low birth weight (<1500 grams)
11. History of poorly controlled seizure disorder
12. Any vaccination 1 month prior to the planned surgery
13. Serology consistent with HIV exposure or consistent with active hepatitis B or C infection
14. Grade 2 or higher lab abnormalities for LFT, bilirubin, creatinine, hemoglobin, WBC count, platelet count, PT, and a PTT
15. Visual or hearing impairment sufficient, in the clinical judgment of the investigator, to preclude cooperation with neurodevelopmental testing. Use of hearing aids is permitted.

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

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