By InvitationPhase 1

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

China1 participantsStarted 2026-01-13

Plain-language 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.

Who can participate

Age range18 Months – 8 Years

SexALL

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Inclusion criteria

✓. 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

Exclusion criteria

✕. 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

What they're measuring

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

Timeframe: through study completion, an average of 5 years

Trial details

NCT IDNCT07398872

SponsorThe Children's Hospital of Zhejiang University School of Medicine

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2027-01-20

View on ClinicalTrials.gov More Mucolipidosis Type IV trials