Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome

Protocol AMT110-CD-001: A Phase I/II, Open-label, Study of Intracerebral Administration of Adeno-associated Viral Vector Containing the Human Alpha-N-acetylglucosaminidase cDNA in Children With Sanfilippo Type B Syndrome

Status

Completed

Phases

Phase 1Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT03300453

Enrollment

Registered

2017-10-03

Start date

2013-09-17

Completion date

2019-11-27

Last updated

2019-12-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Sanfilippo Syndrome B

Brief summary

This is an open-label, phase I/II study of intra-cerebral administration of adenovirus-associated viral vector containing the human NAGLU cDNA to children suffering from Sanfilippo type B syndrome.

Detailed description

This is an open-label, phase I/II study of intra-cerebral administration of adenovirus-associated viral vector containing the human NAGLU cDNA to children suffering from Sanfilippo type B syndrome. Four patients, 18 months up to the 5th birthday, have been included. The inclusion period will be 8 to 12 months. The duration of follow-up for each patient is 1 year post-surgery. The duration of the first extension phase is 18 months. The duration of the second extension phase is 36 months. Therefore, the maximum time of the follow-up will be 66 months

Interventions

DRUGrAAV2/5-hNAGLU

one-time brain intraparenchymal gene therapy dose

Study design

Allocation

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Masking

NONE

Eligibility

Sex/Gender

ALL

Age

18 Months to 60 Months

Healthy volunteers

Inclusion criteria

* Age: 18 months up to 60 months (5th birthday); * Onset of clinical manifestations related to mucopolysaccharidosis type IIIB (MPSIIIB); * NAGLU activity in peripheral blood cell and/or cultured fibroblast extracts of less than 10% of controls; * Patient affiliated to, or covered by a French social security regimen, or European patients with European Health Insurance Card; * Family understanding the procedure and the informed consent; * Signed informed consent by both parents or legal representative; * Vital laboratory parameters within normal range.

Exclusion criteria

* Presence of brain atrophy on baseline MRI judged on a cortico-dural distance of more than 0.6 cm; * Any condition that would contraindicate general anesthesia; * Any other permanent medical condition not related to MPSIIIB that could contraindicate the study participation; * No independent walking (ability to walk without help); * Any medication aiming at modifying the natural course of MPSIIIB given during the 6 months before vector injection (sleep and mood regulators are accepted); * Any condition that would contraindicate treatment with Modigraf®, Cellcept® and prednisolone (Solupred® and Solumedrol®).

Design outcomes

Primary

Measure	Time frame	Description
Number of Participants With Treatment-Related (Serious) Adverse Events as assessed by continuous evaluation of change from baseline	Baseline until end of study (Month 66)	Multiple measurements will be aggregated to derive the number of participants with Abnormal Laboratory Values and/or Adverse Events that are related to Treatment.

Secondary

Measure	Time frame	Description
Number of Participants with presence of brain atrophy, white matter lesions and other lesions as assessed by cerebral MRI	Baseline until end of study (Month 66)	MRIs at Baseline, Month 3, Month 12, Month 30, Month 48 and last visit Month 66. Cerebral MRI will be collected for safety assessment to retrospectively evaluate for efficacy at Baseline, D0, Month 3, Month12, Month 30 and last visit Month 66.

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 15, 2026