Venglustat in Combination with Cerezyme in Adult and Pediatric Patients with Gaucher Disease Type 3

Phase 1

• Conditions: Gaucher disease type 3; MedDRA version: 20.0Level: PTClassification code 10075699Term: Gaucher's disease type IIISystem Organ Class: 10010331 - Congenital, familial and genetic disorders; Therapeutic area: Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]

• Registration Number: EUCTR2020-003120-17-DE
• Lead Sponsor: Genzyme Corporation

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2021-02-23
• Last Update Posted: 21 July 2021

Recruitment & Eligibility

• Status: ot Recruiting
• Sex: All
• Target Recruitment: 12

Inclusion Criteria

- GD3 adult participant =18 years of age.

- GD3 pediatric participant is =12 years of age <18 years and =30 kg of weight. For male patients 12 to <18 years of age: There is a potential risk for venglustat to impact male fertility particularly when used in patients who have not reached a certain stage of sexual maturation. If a patient has not reached Tanner Stage 3 by the screening visit, the Investigator should assess and discuss with the patient the potential benefits and risks when considering eligibility for study participation. In this benefit/risk assessment-discussion, the parent(s)/legal guardian(s), the patient (if considered able by local regulation), and the Sponsor’s medical representative (if considered appropriate) shall be consulted.
Are the trial subjects under 18? yes
Number of subjects for this age range: 10
F.1.2 Adults (18-64 years) yes
F.1.2.1 Number of subjects for this age range 24
F.1.3 Elderly (>=65 years) no
F.1.3.1 Number of subjects for this age range

Exclusion Criteria

- Substrate reduction therapy or chaperone therapy for GD within 6 months prior to enrollment.

- Participant has had a partial or total splenectomy within 3 years prior to randomization.

- 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 patient has a diagnosis of Gilbert Syndrome.

- 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.

- Participant has renal insufficiency, as defined by an estimated glomerular filtration rate <30 mL/min/1.73m2 at the screening visit.

- Participant has received an investigational product within 30 days prior to enrollment.

- Participant has a history of cancer, with the exception of basal cell carcinoma.

- Participant has myoclonic seizures.

- Participant is pregnant or lactating.

- Participant has, according to World Health Organization (WHO) Grading, a cortical cataract >onequarter of the lens circumference (Grade cortical cataract-2) or a posterior subcapsular cataract >2
mm (Grade posterior subcapsular cataract-2). Patients with nuclear cataracts will not be excluded.

- Participant requires use of invasive ventilatory support.

- Participant requires use of noninvasive ventilator support while awake for longer than 12 hours daily.

- Participant is unable to receive treatment with Cerezyme due to a known hypersensitivity or is unwilling to receive Cerezyme treatment to ensure maintenance of Gaucher treatment goals.

- Participant is currently receiving potentially cataractogenic medications (corticosteroids, psoralens used in dermatology with ultraviolet light therapy [PUVA], typical antipsychotics, and glaucoma
medications) or any medication that may worsen the vision of a patient with cataract (eg, alphaadrenergic glaucoma medications).

- Participant has received strong or moderate inducers or inhibitors of CYP3A within 15 days or 5 half-lives from screening, whichever is longer, prior to enrolment in Part 2. This also includes the
consumption of grapefruit, grapefruit juice, or grapefruit containing products within 72 hours of starting venglustat administration in Parts 2 and 3.

- Participant is scheduled for in-patient hospitalization including elective surgery, during the study.

- Participant has had a major organ transplant (e.g., bone marrow or liver).

- Participant, in the opinion of the investigator, is unable to adhere to the requirements of the study or unable to undergo study assessments (e.g., contraindications for magnetic resonance imaging).

Study & Design

• Study Type: Interventional clinical trial of medicinal product
• Study Design: Not specified