ClinicalTrials.gov record NCT07818759
Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB
An Open-Label, Single Injection, Ascending Dose Phase I/II Clinical Study of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB
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AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This open-label study gives a single infusion of rAAV9-CMV-hNAGLUop to people with Sanfilippo syndrome (MPS III). It is a dose‑escalation trial with two dose cohorts and asks whether the infusion is safe and whether enzyme levels or clinical course change. Participants stay in hospital at infusion, remain near the site for the first month, and return for planned follow-up visits.
What it is studying. Whether a single systemic infusion of rAAV9-CMV-hNAGLUop is safe and whether it produces measurable changes in NAGLU enzyme activity and in motor, language, feeding, adaptive, and cognitive measures.
What the researchers hope to learn. To assess safety by measuring the incidence of unacceptable toxicities over 24 months; to measure changes in NAGLU enzyme activity from baseline; and to observe effects on the course of motor, language, feeding, adaptive, and cognitive function.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
The goal of this clinical trial is to learn if one infusion of rAAV9-CMV-hNAGLUop can treat patients with Sanfilippo syndrome (MPS III) 6 months or older. The main questions it aims to answer are:
- Is the treatment safe?
- Is there a change in enzyme activities,?
- Is there a change in natural history trajectory of motor, language, feeding, adaptive and cognitive function?
Participants will be asked to come to Washington University St. Louis and stay in the hospital overnight following the infusion. Partcipant and caregiver(s) will be asked to stay near the hospital for the first month and come back periodically for clinic visits.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Biological
- rAAV9-CMV-hNAGLUop
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- Age >6 months
- Confirmed diagnosis of MPS IIIB based upon meeting the following conditions:
- No detectable or significantly reduced N-acetyl-α-glucosaminidase (NAGLU) enzyme activity by leukocyte assay from CLIA-certified laboratory
- Two variants classified as pathogenic or likely pathogenic in NAGLU on clinical laboratory testing. Variants will be interpreted using the American College of Medical Genetics guidelines for the interpretation of sequence variants and testing must be performed by a CLIA-certified laboratory.
- Clinical history of developmental delays defined as a score of >1 standard deviation below the mean in at least one domain of neuropsychological function (language, memory, non-verbal ability), OR documented historical evidence of a decline of >1 standard deviation on sequential testing, OR a score between 0.75 and 1 standard deviation below the mean and the cognitive defect affects daily performance.
Exclusion criteria
- Receipt of an investigational drug or procedure within 30 days of signing consent.
- A condition, medical or other, that prevents participation in the study, including severe auditory or visual impairment, significant lumbar pathology, lumbar catheter, airway or other factors that preclude the use of general anesthesia, bleeding diathesis, or recent major surgery within 6 weeks of screening that would preclude the patient's ability to participate.
- Active viral infection (includes HIV, or serology consistent with active hepatitis A, B or C infection)
- Clinically significant abnormal hematology within 1 month of infusion (complete blood count with differential), blood chemistry (including aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), gamma-glutamyl transpeptidase (GGT), bilirubin, creatinine, and CRP), coagulability labs (international normalized ration (INR), prothrombin time (PT), activated partial thromboplastin time (aPTT). An abnormal laboratory value will be based on clinical laboratory reference ranges and Investigator's clinical judgment and will be deemed clinically significant if either of the following are met at baseline:
- The abnormality suggests a disease and/or organ toxicity beyond what is expected in Sanfilippo syndrome and/or beyond what would be considered safe for viral vector administration in the opinion of the investigator, or
- The abnormality is of a degree that requires additional active management, such as close observation, change in medication, or further diagnostic investigation.
- Concomitant febrile illness or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risks for gene transfer.
- Anti-AAV9 antibody titers > 1:100 as determined by binding ELISA assay
- Participants who, in the opinion of the Investigator, are unable to comply with the protocol. Examples of inability to comply include unwillingness to travel to the study site, suspected noncompliance with study procedures, behavior that jeopardizes the safety or security of the data or study staff, and other causes of inability to comply.
- Uncontrolled seizure disorder. Participants who are stable on anticonvulsive medications may be included.
- Implanted metal objects or pacemakers that preclude MRI
- Patients with severe cardiomyopathy or significant congenital heart abnormalities
- The presence of significant non-MPS IIIB related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study
- Patients with signs, symptoms, or treatment of infection or administration of vaccines in the 6 weeks prior to study enrollment
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
This is a dose escalation study where one infusion of rAAV9-CMV-hNAGLUop will be administered to patients with Sanfilippo Disease (MPS III). Patients will go through an Informed Consent process and eligibility assessed by reviewing patient medical history and laboratory values. Eligible patients will receive the infusion of rAAV9-CMV-hNAGLUop followed by an inpatient stay in the hospital for at least one night. Over the next 30 days, participants and their caregiver(s) will stay in a home near the hospital to facilitate visits back to the hospital. Participants will have laboratory samples collected at a lab near their home at days 45 and 75. Participants will come back to Washington University St. Louis at Day 60, Day 90, Day 120, Day 180, Month 12, Month 18 and Month 12 to have laboratory tests and other assessments, including ECG, motor skills assessments, gait test, questionnaires, and evaluation by the PI completed.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
After informed consent and screening (medical history and lab review), eligible participants receive a single systemic infusion of rAAV9-CMV-hNAGLUop and stay in the hospital for at least one night. Participants and their caregiver(s) are asked to remain near the hospital for the first month; blood or other laboratory samples will be collected at a local lab on Days 45 and 75. Participants return to the study site for scheduled clinic visits on Day 60, Day 90, Day 120, Day 180, Month 12 and Month 18. At these visits they will have laboratory tests, an ECG, motor and gait assessments, questionnaires, and evaluation by the principal investigator.
How the study is structured. Interventional, open‑label, non‑randomized dose‑escalation study. Eligible participants receive one systemic infusion of rAAV9-CMV-hNAGLUop in one of two sequential dose cohorts (low or high). After the infusion participants stay at least one night in hospital and are asked to stay near the hospital for the first month. Follow-up includes local lab sample collection (noted at Days 45 and 75) and clinic visits to Washington University St. Louis for assessments (including ECG, motor and gait tests, questionnaires, and investigator evaluation) at Day 60, Day 90, Day 120, Day 180, Month 12, and Month 18.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an early-phase study, mainly about safety and dose. What is already known about this treatment?
- The registry says recruitment has not started. When is it expected to open, and can I register interest now?
- The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Sanfilippo syndrome
Important dates
- Study start
- Jan 18, 2027 (estimated)
- Primary completion
- Dec 31, 2028 (estimated)
- Study completion
- Dec 31, 2029 (estimated)
- Target enrollment
- 9 participants (estimated)
- Last updated on registry
- Sep 14, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- NeuroGT
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Amy Fadden 📞 980-297-5490 ✉ clinicaltrials@neurogt.com
Participating sites (1)
- Washington University School of Medicine Division of Genetics and Genomic Medicine, Rare Diseases Department of Pediatrics
St Louis, Missouri, 63110 · United States
Terms used on this page · explanations by MedicalUpdates.ai
- natural history
- A study that follows how a condition changes over time without assigning an experimental treatment. It may involve study visits and tests, and is often used to plan future trials.
- investigational drug
- A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
- baseline
- Measurements taken at the start of the study, before any study treatment, so that later results can be compared with them.
- MRI
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- enrollment
- The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
- dose escalation
- Groups of participants receive increasing doses of a treatment, one group after another, to find a dose that can be given safely.
- Informed Consent
- The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
- ECG
- A recording of the heart's electrical activity. QTc is one measurement from it; some drugs are avoided if it is prolonged.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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