A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)

Gaucher disease is characterized by lysosomal accumulation of glucosylceramide due to
impaired glucosylceramide hydrolysis. Type 1 Gaucher disease, the most common form accounts
for greater than (>) 90% of cases and does not involve the central nervous system (CNS).
Typical manifestations of Type 1 Gaucher disease include splenomegaly, hepatomegaly,
thrombocytopenia, anemia, skeletal pathology and decreased quality of life. The disease
manifestations are caused by the accumulations of glucosylceramide (storage material) in
Gaucher cells which have infiltrated the spleen and liver as well as other tissue.
Eliglustat tartrate is a small molecule developed as an oral therapy which acts to
specifically inhibit production of this storage material in Gaucher cells.

This study is designed to determine the efficacy, safety, and pharmacokinetics (PK) of
eliglustat tartrate in adult participants (>16 years) with Gaucher disease Type 1. The study
consists of 2 periods: The Double-Blind Primary Analysis Period (Day 1 to Week 39) and the
Open-Label Period (post-Week 39 [Day 1 of the Open-Label Period] through study completion).

Inclusion Criteria:

- The participant (and/or their parent/legal guardian) is willing and able to provide
signed informed consent prior to any study-related procedures to be performed

- The participant is at least 16 years old at the time of randomization

- The participant has a confirmed diagnosis of Gaucher disease Type 1

- Female participants of childbearing potential must have a documented negative
pregnancy test prior to dosing. In addition all female participants of childbearing
potential must use a medically accepted form of contraception throughout the study

Exclusion Criteria:

- The participant has had a partial or total splenectomy

- The participant has received pharmacological chaperones or miglustat within 6 months
prior to randomization

- The participant has received enzyme replacement therapy within 9 months prior to
randomization

- The participant has Type 2 or 3 Gaucher disease or is suspected of having Type 3
Gaucher disease

- The participant has any clinically significant disease, other than Gaucher disease,
including cardiovascular, renal, hepatic, gastrointestinal (GI), pulmonary,
neurologic, endocrine, metabolic, (for example, hypokalemia, hypomagnesemia), or
psychiatric disease, other medical conditions, or serious intercurrent illness that
may confound the study results, or, on the opinion of the investigator, may preclude
participation in the study

- The participant has tested positive for the human immunodeficiency virus (HIV)
antibody, Hepatitis C antibody, or Hepatitis B surface antigen

- The participant has received an investigational product within 30 days prior to
randomization

- The participant is pregnant or lactating