Gaucher Disease, Type 2Phase 1/2NCT04411654
Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
A Phase 1/2 study testing LY3884961, Methylprednisolone and Sirolimus in people with Gaucher Disease, Type 2, run by Prevail Therapeutics at 6 sites in 2 countries.
Trial summary
J3Z-MC-OJAB is an open-label, Phase 1/2, multicenter study to evaluate the safety and efficacy of single-dose LY3884961 (formerly PR001) in infants diagnosed with Type 2 Gaucher disease (GD2). For each patient, the study will be approximately 5 years in duration. Read more about this study
- Who is it for?
- Ages 0 to 24 months
- Conditions the study is for
- Gaucher Disease, Type 2
- What is being tested?
- LY3884961, Methylprednisolone and Sirolimus
- Type of treatment
- Pill or oral medicine, Injection or infusion
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 7 participants
- Where
- 6 sitesin 2 countries
- Study dates
- 29 Jun 2021to Feb 2027
- Phase
- Phase 1/2
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 0 to 24 months
- All sexes
- No healthy volunteers
- Child
Who may be able to join
- Bi-allelic GBA1 mutations consistent with a diagnosis of GD2 confirmed by the central laboratory.
- Clinical diagnosis of GD2
- Parent/legal guardian is capable of providing signed informed consent; including compliance with the requirements and restrictions listed in the informed consent form (ICF) in this protocol.
- Patient has a parent/legal guardian able to participate in the study as a source of information on the patient's health status and cognitive and functional abilities (including providing input into the rating scales).
Who cannot join
- Significant CNS disease other than GD2 that may be a cause for the patient's symptoms or interfere with study objectives.
- Achieved independent gait.
- Severe peripheral symptoms of GD which, in the opinion of the Investigator, would pose an unacceptable risk to the patient or interfere with the patient's ability to comply with study procedures or interfere with the conduct of the study.
- Concomitant disease, condition, or treatment which, in the opinion of the Investigator, would pose an unacceptable risk to the patient or interfere with the patient's ability to comply with study procedures or interfere with the conduct of the study.
- Use of any substrate reduction therapy (SRT) for GD treatment.
- Use of prohibited medications, herbals, or over-the-counter agents as listed in the protocol.
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- Any type of prior gene or cell therapy.
- Use of systemic immunosuppressant or corticosteroid therapy other than protocol-specified immunosuppression.
- Participation in another investigational drug or device study within the past 3 months.
- Brain MRI (magnetic resonance imaging) and MRA (magnetic resonance angiography) showing clinically significant abnormality deemed a contraindication to intracisternal injection.
- Clinically significant laboratory test result abnormalities assessed at screening.
- Contraindications or intolerance to radiographic visualization methods (e.g. MRI, MRA, CT), and intolerance to contrast agents used for MRI or CT scans.
- Contraindications to general anesthesia or sedation.
- Other protocol-defined inclusion/exclusion criteria may apply.
Trial locations and contacts
6 sites in 2 countries.
6 sites in 2 countries
United States5 sites
Lysosomal & Rare Disorders Research and Treatment Center
Fairfax, Virginia, 22030
University of Minnesota Masonic Children's Hospital, 2450 Riverside Avenue
Minneapolis, Minnesota, 55454
NYU Medical Center, 305 Second Ave, Suite 16
New York, New York, 10003
UCSF Benioff Children's Hospital, 747 52nd St
Oakland, California, 94609
Children's Hospital of Pittsburgh, 4401 Penn Avenue
Pittsburgh, Pennsylvania, 15224
United Kingdom1 site
Manchester Centre for Genomic Medicine, 6th Floor, St Mary's Hospital, Oxford Road
Manchester, M13 9WL
About this study
Official title: An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose LY3884961 in Infants With Type 2 Gaucher Disease
J3Z-MC-OJAB is an open-label, Phase 1/2, multicenter study to evaluate the safety and efficacy of single-dose LY3884961 (formerly PR001) in infants diagnosed with Type 2 Gaucher disease (GD2). For each patient, the study will be approximately 5 years in duration. During the first 12 months after dosing, patients will be evaluated for the effects of LY3884961 on safety, tolerability, immunogenicity, biomarkers, and efficacy. Patients will be followed up for an additional 4 years to monitor safety and changes on selected biomarkers and clinical outcomes.
- Conditions
- Gaucher Disease, Type 2
- Being tested
- LY3884961, Methylprednisolone, Sirolimus, Prednisone
- Keywords
- Gaucher Disease, GD, Gaucher, Type 2 Gaucher, Neuronopathic Gaucher, nGD, AAV9, GBA, Gene Therapy, Glucocerebrosidase, GBA1 mutation, Infants
- Medical subject headings
- Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
LY3884961Genetic
Participants will receive a single dose of LY3884961 administered intracisternally.
Single IV pulse administered as concomitant medication.
SirolimusDrug
Loading dose, followed by maintenance doses, followed by dose tapering; administered as concomitant medication.
PrednisoneDrug
Administered orally as concomitant medication, followed by dose tapering.
| Study group | Role | What they receive |
|---|---|---|
| Low Dose | Experimental | Not described Receives: Genetic: LY3884961; Drug: Methylprednisolone; Drug: Sirolimus; Drug: Prednisone |
| High Dose | Experimental | Not described Receives: Genetic: LY3884961; Drug: Methylprednisolone; Drug: Sirolimus; Drug: Prednisone |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of Adverse Events (AEs), Serious Adverse Events (SAEs), and Adverse Events leading to discontinuation
Measured: Year 5
Immunogenicity of AAV9 and GCase in blood
Measured: Up to Year 2
Immunogenicity of AAV9 and GCase in CSF
Measured: Up to Year 1
Secondary outcomes (16)
Time to death
Measured: Baseline until event or study completion, up to Year 5
Time to clinical event
Clinical event defined as tracheostomy/invasive ventilation, and/or percutaneous endoscopic gastrostomy (PEG) tube placement, and/or nasogastric (NG) tube placement
Measured: Baseline until event or study completion, up to Year 5
Change in cognitive function
Measured using Bayley Scales of Infant and Toddler Development (BSID-III)
Measured: Months 6,12 and up to Year 2
Change in cognitive function
Measured using Wechsler Preschool and Primary Scale of Intelligence (WPPSI-IV) as appropriate. (Not all patients begin the study at birth. Only patients who are age 36 months at the designated study visits will be assessed using this measure)
Measured: Study Month 12 and up to Study Year 2
Change in motor skills
Change from baseline in motor function using Gross Motor Function Measure (GMFM-88).
Measured: Months 6, 12 and up to Year 2
Change in motor skills
Change from baseline in motor function using the BSID-III.
Measured: Months 6, 12 and up to Year 2
Change in Clinical Global Impressions (Severity)
Change from baseline in the clinical severity of illness (CGI-Severity {CGI-S}).
Measured: Months 6, 12 and up to Year 2
Clinical Global Impressions (Improvement)
Clinical improvement from baseline (CGI-Improvement [CGI-I]).
Measured: Months 6, 12 and up to Year 2
Change in adaptive behavior and functioning
Change from baseline in adaptive functioning using the Vineland Adaptive Behavior Scale (VABS-2) (2nd edition)
Measured: Months 6 and 12 and up to Year 2
Change in most troubling symptoms
Change from baseline in the Visual Analog Scale for the Most Troubling Symptoms (VAS-MTS)
Measured: Months 6, 12 and up to Year 2
Change in behavioral symptoms
Change from baseline in the Child Behavior Checklist (CBCL)
Measured: Months 6, 12 and up to Year 2
Change in GCase (glucocerebrosidase) enzyme activity levels in blood
Measured: Up to Year 5
Change in GCase enzyme activity levels in CSF (cerebrospinal fluid)
Measured: Up to Year 3
Change in glycolipid levels in blood
Measured: Up to Year 5
Change in glycolipid levels in CSF
Measured: Up to Year 3
Individual Vector Shedding data
Measured: Up to Year 5
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jun 2020
- Study start29 Jun 2021
- Primary completionFeb 2027 (estimated)
- Study completionFeb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Gaucher Disease, Type 2Studies of the same condition, open and under way.
- 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 1/2
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 7 participants (actual)
Sponsor and investigators
- Lead sponsor
- Prevail Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Eli Lilly and Company
- Responsible party
- Sponsor
- Investigators
- Hamzeh Migdadi, M.D., Study director, Prevail Therapeutics
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04411654
- Sponsor's protocol ID
- J3Z-MC-OJAB (PRV-GD2-101)
- Status last verified
- Oct 2026
- First submitted
- 11 May 2020
- Last updated
- 22 Oct 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No