Mucolipidosis Type IVPhase 1AAV9-hMCOLN1NCT07398872
Safety and Efficacy of AAV9. hMCOLN1co For Patients With Mucolipidosis Type IV
A Phase 1 study testing AAV9.hMCOLN1co in people with Mucolipidosis Type IV, run by The Children's Hospital of Zhejiang University School of Medicine at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 months to 8 years
- Conditions the study is for
- Mucolipidosis Type IV
- What is being tested?
- AAV9.hMCOLN1co
- Type of treatment
- Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteChina
- Study dates
- 13 Jan 2026to 20 Jan 2031
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 months to 8 years
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- 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
Who cannot join
- 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
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- 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
- Inability to discontinue laxatives or diuretics within 24 hours prior to dosing
- Oral administration of β-receptor agonists within 30 days prior to dosing
- Anti-AAV9 antibody titer > 1:50 (patients may be enrolled if a repeat test after a 2-4-week interval is ≤ 1:50)
- Clinically significant abnormalities in laboratory parameters prior to gene replacement therapy, such as gamma-glutamyl transpeptidase (GGT)/ALT/AST/total bilirubin (TBIL) > 2 × upper limit of normal (ULN), estimated glomerular filtration rate (eGFR) < 60 mL/min, hemoglobin < 8 or > 18 g/dL, white blood cell count > 20,000/cmm, etc.
- Anticipated need for major surgery (e.g., spinal surgery, tracheostomy) during the study period
- Inability to comply with the study protocol or to attend scheduled follow-up visits
- Refusal to sign the informed consent form and/or unwillingness to maintain the confidentiality of the study data.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site
Children's Hospital Zhejiang University School of Medicine
Hangzhou, Zhejiang
About this study
Official title: Evaluating the Safety and Efficacy of AAV9.hMCOLN1co in Treating Mucolipidosis Type IV: A Single-Center, Interventional, Open-Label, Single-Arm Clinical Study
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
- Being tested
- AAV9.hMCOLN1co
- Keywords
- Mucolipidosis Type IV,, MLIV
- Medical subject headings
- Mucolipidoses
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
AAV9.hMCOLN1coBiological
A single intrathecal infusion of 10 mL at 2E13 vg/mL for a total dose of 2E14 vg
| Study group | Role | What they receive |
|---|---|---|
| Treatment Arm AAV9. hMCOLN1co, a gene therapy product | Experimental | Not described Receives: Biological: AAV9.hMCOLN1co |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: through study completion, an average of 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Feb 2026
- Study start13 Jan 2026
- Primary completion20 Jan 2027 (estimated)
- Study completion20 Jan 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mucolipidosis Type IVStudies of the same condition, open and under way.
- More trials run by The Children's Hospital of Zhejiang University School of MedicineThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07398872
- Sponsor's protocol ID
- AAV9. hMCOLN1co.01
- Acronym
- AAV9-hMCOLN1
- Status last verified
- Jan 2026
- First submitted
- 3 Feb 2026
- Last updated
- 10 Feb 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluating the Safety and Efficacy of AAV9.hMCOLN1co in Treating Mucolipidosis Type IV: A Single-Center, Interventional, Open-Label, Single-Arm Clinical Study
- ClinicalTrials.gov ID
- NCT07398872
- Acronym / sponsor ID
- AAV9-hMCOLN1 / AAV9. hMCOLN1co.01
- Conditions
- Mucolipidosis Type IV
- Keywords
- Mucolipidosis Type IV,, MLIV
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 1 participants (estimated)
- Lead sponsor
- The Children's Hospital of Zhejiang University School of MedicineUniversity, hospital or other
- Study start
- 13 Jan 2026 (actual)
- Primary completion
- 20 Jan 2027 (estimated)
- Study completion
- 20 Jan 2031 (estimated)
- First posted
- 10 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Treatment Arm AAV9. hMCOLN1co, a gene therapy product | Experimental | Biological: AAV9.hMCOLN1co |
Who may qualify
- Ages
- 18 months to 8 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (22 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| AAV9.hMCOLN1coA single intrathecal infusion of 10 mL at 2E13 vg/mL for a total dose of 2E14 vg | Biological | Treatment Arm AAV9. hMCOLN1co, a gene therapy product |
Primary outcome
To assess the types, severity, and incidence of adverse events(AEs) and serious adverse events(SAEs) following treatment
Time frame: through study completion, an average of 5 years
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Feb 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing AAV9.hMCOLN1co in people with Mucolipidosis Type IV, run by The Children's Hospital of Zhejiang University School of Medicine at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 22 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 10 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To assess the types, severity, and incidence of adverse events(AEs) and serious adverse events(SAEs) following treatment (time frame: through study completion, an average of 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 10 Feb 2026.