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

Phase 1

• Conditions: Mucopolysaccharidosis Type IIIA; MedDRA version: 20.1Level: PTClassification code 10056890Term: Mucopolysaccharidosis IIISystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Nutritional and Metabolic Diseases [C18]

• Registration Number: EUCTR2018-000195-15-NL
• Lead Sponsor: ysogene SA

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2018-09-27
• Last Update Posted: 13 July 2020

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

11. Documented MPS IIIA diagnosis based on genotyping confirming the SGSH gene mutations
2. Age = 30 months at screening (main cohort) or =6 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 other protocol requirements
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’s judgement
2. Participation in another gene or cell therapy clinical trial
3. Past use of SGSH enzyme replacement therapy for a period exceeding 3 months. 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 at low dose (<150mg/Kg/day) 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. Any condition that would contraindicate treatment with immunosuppressants such as
tacrolimus, mycophenolate mofetil or steroids
7. Rare and unrelated serious comorbidities e.g. Down syndrome, intraventricular hemorrhage in the new-born period, or extreme low birth weight (<1500 grams)
8. History of poorly controlled seizure disorder
9. Any vaccination 1 month prior to the planned surgery
10. 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