Safety and Efficacy of AAV9. hMCOLN1co For Patients With Mucolipidosis Type IV

NCT07398872 | Enrolling By Invitation Phase 1 DMC

• 1 other identifier: AAV9. hMCOLN1co.01
• Study Type: interventional
• Target: 1
• Locations: 1 country
• Sites: 1

Brief Summary

Safety and Efficacy of AAV9.hMCOLN1co for patients with Mucolipidosis Type IV(MLIV): A Single-Center, Interventional, Open-Label, Single-Arm Clinical Study. The goal of this clinical trial is to evaluate whether a gene therapy can safely treat children with MLIV.

Conditions

Mucolipidosis Type IV

Keywords

Mucolipidosis Type IV,; MLIV

Outcome Measures

Primary Outcomes (1)

• To assess the types, severity, and incidence of adverse events(AEs) and serious adverse events(SAEs) following treatment

  collection of occurrence and severity of serious adverse events. Incidence of serious adverse events and adverse events throughout the study, as assessed by Common Terminology Criteria for Adverse Events (CTCAE) v5.0. Higher grade values indicated greater severity. Grade 1 - Grade 5.

  through study completion, an average of 5 years

Study Arms (1)

Treatment Arm AAV9. hMCOLN1co, a gene therapy product

EXPERIMENTAL

Biological: AAV9.hMCOLN1co

Interventions

AAV9.hMCOLN1co BIOLOGICAL

A single intrathecal infusion of 10 mL at 2E13 vg/mL for a total dose of 2E14 vg

Treatment Arm AAV9. hMCOLN1co, a gene therapy product

Eligibility Criteria

• Age: 18 Months - 8 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)

You may qualify if:

• Must be between 1.5 and 8 years of age(inclusive) at the time of signing the informed consent form
• Diagnosed with Mucolipidosis type IV caused by MCOLN1 gene mutations
• The legal guardian and/or the participant(if applicable) has signed the informed consent form
• Meet the criteria for anesthesia and sedation appropriate for their age(as assessed by the investigator)
• Has completed age-appropriate immunizations according to the National Immunization Program Schedule for Children

You may not qualify if:

• Presence of any contraindication to lumbar puncture or intrathecal therapy (e.g., spina bifida, meningitis, coagulation disorders, obstructive spinal internal fixation devices) or presence of a cerebrospinal fluid (CSF) diversion/shunting device
• At screening, severe joint contracture as assessed by the physiotherapist, affecting functional assessment or intrathecal administration
• X-ray examination indicating severe scoliosis (Cobb angle ≥ 50°)
• History of, or planned, scoliosis corrective surgery within 1 year before or after dosing
• Use of invasive respiratory support (e.g., tracheostomy with positive pressure ventilation) or oxygen saturation while awake \< 95% (or \< 92% at altitudes \> 1000 m)
• Requirement for ≥ 12 hours/day of non-invasive respiratory support within 2 weeks prior to dosing
• Dependence on gastric tube feeding with the majority of nutrition taken non-orally, or body weight below the 3rd percentile for age according to World Health Organization (WHO) standards (patients with an existing gastrostomy are not excluded)
• Active viral infection, including human immunodeficiency virus (HIV), hepatitis B, hepatitis C, etc.
• In the investigator's judgment, occurrence of a serious non-respiratory infection (e.g., pyelonephritis, meningitis) within 4 weeks prior to dosing, or presence of other serious comorbid disease
• In the investigator's judgment, severe renal and/or hepatic impairment
• Known history of epilepsy, diabetes, idiopathic hypocalciuria, symptomatic cardiomyopathy, etc.
• In the investigator's judgment, history of bacterial meningitis or central nervous system disease (including tumors), with MRI/computed tomography (CT) indicating abnormalities that may affect lumbar puncture or cerebrospinal fluid circulation
• In the investigator's judgment, allergy to prednisolone or other glucocorticoids and their excipients
• In the investigator's judgment, allergy to gadolinium or gadolinium-containing contrast agents
• Concomitant use of medications for myopathy/neuropathy, antidiabetic drugs, immunosuppressants, plasma exchange, or immunomodulators (e.g., adalimumab), or receipt of immunosuppressive therapy (e.g., glucocorticoids, cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab, etc.) within 3 months prior to dosing

Sponsors & Collaborators

• The Children's Hospital of Zhejiang University School of Medicine: lead

Study Sites (1)

Children's Hospital Zhejiang University School of Medicine

Hangzhou, Zhejiang, China

Location

MeSH Terms

Conditions

Mucolipidoses

Condition Hierarchy (Ancestors)

Bone Diseases, Metabolic; Bone Diseases; Musculoskeletal Diseases; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 3, 2026
• First Posted: February 10, 2026
• Study Start: January 13, 2026
• Primary Completion (Estimated): January 20, 2027
• Study Completion (Estimated): January 20, 2031
• Last Updated: February 10, 2026

Record last verified: 2026-01

Locations

CN (1)