A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy

This was a Phase 2, open-label study in participants with Gaucher disease, a lysosomal
storage disorder. Afegostat tartrate (also known as AT2101 or isofagomine tartrate) is
designed to act as a pharmacological chaperone by selectively binding to misfolded
β-glucocerebrosidase (GCase) and helping it fold correctly, intended to restore GCase
activity. The study consisted of a 14-day screening period, a 28-day treatment period, and a
7-day wash-out period. Participants received 1 of 4 dosing regimens for afegostat tartrate.

Inclusion Criteria:

- Had a confirmed diagnosis of type 1 Gaucher disease with a known documented missense
gene mutation in at least 1 of the 2 gene-encoding β-glucosidase alleles

- Clinically stable

- Male or female participants, 18 to 74 years old inclusive

- All participants of childbearing potential used adequate birth control

- Provided written informed consent to participate in the study

Exclusion Criteria:

- Clinically significant disease, severe complications from Gaucher disease, or serious
illness that precluded participation in the study in the opinion of the Investigator
that compromised the safety of the participant or precluded the participant from
completing the study

- During the screening period, any clinically significant findings, as deemed by the
Investigator

- Partial or total splenectomy (removal of spleen) within the 2 years prior to study
entry

- History of pulmonary hypertension or Gaucher related lung disease

- History of allergy or sensitivity to the study drug or any excipients, including any
prior serious adverse reaction to iminosugars (for example, N-butyldeoxynojirimycin or
miglustat)

- Pregnant or breast-feeding

- Current/recent drug or alcohol abuse

- Treatment with any investigational product in the 90 days before study entry

- Treatment in the previous 90 days with any drug known to have a well-defined potential
for toxicity to a major organ

- Presence or symptoms of gastrointestinal, liver or kidney disease, or other conditions
known to interfere with the absorption, distribution, metabolism, or excretion of
drugs