Safety and Efficacy Study of Sebelipase Alfa in Participants With Lysosomal Acid Lipase Deficiency

The primary objective of this study was to evaluate the safety of intravenous (IV) infusions
of sebelipase alfa in a more broad population of LAL-D participants than previously studied.
Such participants may have been excluded from enrollment in other studies of LAL-D because of
age, disease progression, previous treatment by hematopoietic stem cell or liver
transplantation, less common disease manifestations, or disease characteristics that would
preclude participation in a placebo-controlled study. This open-label study included infants
>8 months, children, and adults. At least 4 participants in the study were to be between the
age of 2 and 4 years. Eligible participants received sebelipase alfa at a dose of 1
milligram/kilogram (mg/kg) every other week (qow).

Key Inclusion Criteria:

1. Participant was >8 months of age at the time of dosing.

2. Confirmation of LAL-D diagnosis as determined by the central laboratory or, for
participants with prior hematopoietic stem cell transplant or liver transplant,
historical enzyme activity or molecular genetic testing confirming a diagnosis of
LAL-D.

3. Participants >8 months but <4 years of age at Screening had at least 1 of the
following documented clinical manifestations of LAL-D:

- Dyslipidemia

- Elevated transaminases

- Impaired growth

- Suspected malabsorption

- Other clinical manifestation of LAL-D

4. Participants ≥4 years of age at Screening had at least 1 of the following documented
clinical manifestations of LAL-D:

- Evidence of advanced liver disease

- Histologically confirmed disease recurrence in participants with past liver or
hematopoietic transplant

- Persistent dyslipidemia

- Suspected malabsorption

- Other clinical manifestation of LAL-D

Key Exclusion Criteria:

1. Participant had known causes of active liver disease other than LAL-D, which had not
been adequately treated.

2. Participant received a hematopoietic stem cell or liver transplant <2 years from the
time of dosing.

3. Participant with co-morbidities other than complications due to LAL-D, which were
irreversible or associated with a high mortality risk within 6 months or would
interfere with study compliance or data interpretation.