Intra-cerebral gene therapy for Sanfilippo type B syndrome

Phase 1

Completed

• Conditions: Mucopolysaccharidose - neurodegenerative disease; Nutritional, Metabolic, Endocrine; Mucopolysaccharidosis

• Registration Number: ISRCTN19853672
• Lead Sponsor: Institut Pasteur (France)

Brief Summary

2017 Results article in https://pubmed.ncbi.nlm.nih.gov/28713035/ results (added 18/12/2020) 2021 Results article in https://pubmed.ncbi.nlm.nih.gov/34040605/ results (added 30/09/2021)

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2011-08-03
• Study Completion: 2015-11-01
• Last Update Posted: 11 October 2021

Recruitment & Eligibility

• Status: Completed
• Sex: All
• Target Recruitment: 4

Inclusion Criteria

1. Age: 18 months to the end of the 5th year
2. Onset of clinical manifestations related to MPSIIIB during the first 5 years of life
3. NaGlu activity in peripheral blood cell and/or cultured fibroblast extracts of less than 10% of controls
4. Patient affiliated to a social security regimen
5. Family understanding the procedure and the informed consent
6. Vital laboratory parameters within normal range

Sanfilippo disease is a rare disease and so the countries of recruitment will depend on the availabilities of the patient at the time of recruitment. There will be one study centre in France.

Exclusion Criteria

1. Presence of brain atrophy on pre-inclusion MRI judged on a cortico-dural distance of more than 1 cm
2. Any condition that would contraindicate permanently anaesthesia
3. Any other permanent medical condition not related to MPSIIIB
4. No independent walking (Ability to walk without help)
5. Any vaccination 1 month before vector injection
6. Receipt of aspirin within one month
7. Any medication aiming at modifying the natural course of MPSIIIB given during the 6 months before vector injection

Study & Design

• Study Type: Interventional
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Clinical, radiological, biological tolerance associated to the proposed treatment

Secondary Outcome Measures

Name	Time	Method
Collection of data to define exploratory tests that will become evaluation criteria for further clinical phase III efficacy studies (brain MRI; neurological and biological markers)