Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3 (LEAP2MONO)

  • End date
    Sep 30, 2025
  • participants needed
  • sponsor
    Genzyme, a Sanofi Company
Updated on 23 May 2022
platelet count
replacement therapy
bone pain
neuronopathic gaucher disease


This is a parallel arm, Phase 3, double-blind, double-dummy, active-comparator, 2 arm study to evaluate the efficacy and safety of daily oral venglustat versus intravenous Cerezyme infusions every two weeks for improvement or stabilization of the neurological manifestations and maintenance of systemic disease stability in participants aged ≥12 and <18 years and adult patients with Gaucher disease Type 3 (GD3) who have been treated with Enzyme Replacement Therapy (ERT) for at least 3 years.


Screening period: 45 days

Double blind, double-dummy, primary analysis treatment period: 52 weeks

Open label extended treatment period: minimum of 52 weeks and maximum of 130 weeks

Follow up phone call: 30-37 days after end of treatment

Condition Gaucher's Disease Type III
Treatment imiglucerase, Venglustat
Clinical Study IdentifierNCT05222906
SponsorGenzyme, a Sanofi Company
Last Modified on23 May 2022


Yes No Not Sure

Inclusion Criteria

The participant has received ERT (Cerezyme or other ERT; as deemed appropriate by local regulations) for at least 3 years prior to enrollment, on a stable dose for at least 6 months, is deemed clinically stable for at least 1 year by the Investigator and is within the therapeutic goals as all of the following
Hemoglobin level of ≥11.0 g/dL for females and ≥12.0 g/dL for males
Platelet count ≥100 000/mm3
Spleen volume <10 multiples of normal (MN)
Liver volume <1.5 MN
No bone crisis and free of symptomatic bone disease such as bone pain attributable to osteonecrosis and/or pathological fractures within 3 months prior to screening
Adult participant is ≥18 years of age
Pediatric participant is ≥12 years <18 years of age
The participant has a clinical diagnosis of GD3 and a documented deficiency of acid beta-glucosidase activity confirming this diagnosis
The participant has a modified SARA score of 1 or above
The presence of gaze palsy, predominantly horizontal, with slow or absent saccades
If the participant has a history of seizures, they are well controlled under appropriate medication not identified as a strong or moderate inducer or inhibitor of CYP3A
Participants ≥ 30 kg of weight
Contraception for sexually active male participants or female patient; not pregnant or breastfeeding; no sperm donating for male participant
Signed written informed assent/consent

Exclusion Criteria

The participant is blood transfusion-dependent
Prior esophageal varices or liver infarction or current liver enzymes (alanine aminotransferase [ALT]/ aspartate aminotransferase [AST]) or total bilirubin >2 times the upper limit of normal, unless the participant has a diagnosis of Gilbert Syndrome
The participant has any clinically significant disease, other than GD, including cardiovascular (congenital cardiac defect, coronary artery disease, valve disease or left sided heart failure; clinically significant arrhythmias or conduction defect), hepatic, gastrointestinal, pulmonary, neurologic, endocrine, metabolic (eg, hypokalemia, hypomagnesemia) or psychiatric disease, other medical conditions, or serious intercurrent illnesses that may preclude participation in the opinion of the Investigator
The participant has renal insufficiency, as defined by an estimated glomerular filtration rate <30 mL/min/1.73m2 at the screening visit
The participant has a history of cancer, except for basal cell carcinoma
The participant has progressive myoclonic epilepsy
The participant is pregnant (has a positive serum beta-human chronic gonadotropin [β-hCG]) or lactating
The participant has a cortical cataract >one-quarter of the lens circumference (Grade cortical cataract-2) or a posterior subcapsular cataract >2 mm (Grade posterior subcapsular cataract-2). Participants with nuclear cataracts will not be excluded
The participant requires use of invasive ventilatory support
The participant requires use of noninvasive ventilator support while awake for longer than 12 hours daily
The participant is scheduled for in-patient hospitalization including elective surgery, during the study
The participant has had a major organ transplant (eg, bone marrow or liver)
A history of drug and/or alcohol abuse within the past year prior to the screening visit
Chaperone therapy within 6 months, substrate reduction therapy other than venglustat within 6 months or venglustat substrate reduction therapy prior to enrollment
The participant has received an investigational product, within 30 days prior to enrollment
The participant is currently receiving potentially cataractogenic medications
The participant has received strong or moderate inducers or inhibitors of CYP3A within 14 days or 5 half-lives from screening, whichever is longer, prior to screening. This also includes the consumption of grapefruit, grapefruit juice, or grapefruit containing products within 72 hours of starting venglustat. The participant is unwilling to abstain from consumption of grapefruit, grapefruit juice, or grapefruit containing products for the duration of the treatment period
The participant, in the opinion of the investigator, is unable to adhere to the requirements of the study or unable to undergo study assessments (eg, contraindication for MRI)
Type of participant and disease characteristic: the participant has had a total splenectomy prior to enrollment. The patient had a partial splenectomy within 3 years prior to randomization
Participant not suitable for participation, whatever the reason, as judged by the Investigator, including medical or clinical conditions, or participants potentially at risk of noncompliance to study procedures
Sensitivity to any of the study interventions, or components thereof, or drug or other allergy that, in the opinion of the Investigator, contraindicates participation in the study
The above information is not intended to contain all considerations relevant to a potential
participation in a clinical trial
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