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Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)

Phase 1
Active, not recruiting
Conditions
Gaucher Disease, Type 2
Interventions
Registration Number
NCT04411654
Lead Sponsor
Prevail Therapeutics
Brief 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. 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.

Detailed Description

Not available

Recruitment & Eligibility

Status
ACTIVE_NOT_RECRUITING
Sex
All
Target Recruitment
15
Inclusion Criteria
  • 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).
Exclusion Criteria
  • 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.
  • 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.

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
Low DoseLY3884961-
High DoseLY3884961-
High DoseMethylprednisolone-
Low DoseSirolimus-
Low DosePrednisone-
High DoseSirolimus-
High DosePrednisone-
Low DoseMethylprednisolone-
Primary Outcome Measures
NameTimeMethod
Immunogenicity of AAV9 and GCase in bloodUp to Year 2
Number of Adverse Events (AEs), Serious Adverse Events (SAEs), and Adverse Events leading to discontinuationYear 5
Immunogenicity of AAV9 and GCase in CSFUp to Year 1
Secondary Outcome Measures
NameTimeMethod
Change in most troubling symptomsMonths 6, 12 and up to Year 2

Change from baseline in the Visual Analog Scale for the Most Troubling Symptoms (VAS-MTS)

Clinical Global Impressions (Improvement)Months 6, 12 and up to Year 2

Clinical improvement from baseline (CGI-Improvement \[CGI-I\]).

Change in adaptive behavior and functioningMonths 6 and 12 and up to Year 2

Change from baseline in adaptive functioning using the Vineland Adaptive Behavior Scale (VABS-2) (2nd edition)

Time to deathBaseline until event or study completion, up to Year 5
Time to clinical eventBaseline until event or study completion, up to Year 5

Clinical event defined as tracheostomy/invasive ventilation, and/or percutaneous endoscopic gastrostomy (PEG) tube placement, and/or nasogastric (NG) tube placement

Change in glycolipid levels in bloodUp to Year 5
Change in glycolipid levels in CSFUp to Year 3
Individual Vector Shedding dataUp to Year 5
Change in GCase enzyme activity levels in CSF (cerebrospinal fluid)Up to Year 3
Change in cognitive functionStudy Month 12 and up to Study Year 2

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)

Change in motor skillsMonths 6, 12 and up to Year 2

Change from baseline in motor function using the BSID-III.

Change in behavioral symptomsMonths 6, 12 and up to Year 2

Change from baseline in the Child Behavior Checklist (CBCL)

Change in GCase (glucocerebrosidase) enzyme activity levels in bloodUp to Year 5
Change in Clinical Global Impressions (Severity)Months 6, 12 and up to Year 2

Change from baseline in the clinical severity of illness (CGI-Severity {CGI-S}).

Trial Locations

Locations (5)

Manchester Centre for Genomic Medicine, 6th Floor, St Mary's Hospital, Oxford Road

🇬🇧

Manchester, United Kingdom

UCSF Benioff Children's Hospital, 5700 Martin Luther King Jr Way

🇺🇸

Oakland, California, United States

University of Minnesota Masonic Children's Hospital, 2450 Riverside Avenue

🇺🇸

Minneapolis, Minnesota, United States

Children's Hospital of Pittsburgh, 4401 Penn Avenue

🇺🇸

Pittsburgh, Pennsylvania, United States

Lysosomal Rare Disorders Research and Treatment Center

🇺🇸

Fairfax, Virginia, United States

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