Acid Lipase Replacement Investigating Safety and Efficacy (ARISE) in Participants With Lysosomal Acid Lipase Deficiency

NCT ID: NCT01757184

Last Updated: 2020-12-29

Study Results

Results available

Outcome measurements, participant flow, baseline characteristics, and adverse events have been published for this study.

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE3

Total Enrollment

66 participants

Study Classification

INTERVENTIONAL

Study Start Date

2013-01-22

Study Completion Date

2018-12-11

Brief Summary

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This Phase 3 study evaluated the efficacy and safety of 1 milligram/kilogram (mg/kg) intravenous (IV) infusions of SBC-102 (sebelipase alfa) administered every other week (qow) in participants with late onset lysosomal acid lipase deficiency (LAL-D) (cholesteryl ester storage disease \[CESD\]).

Late-onset LAL-D is an underappreciated cause of cirrhosis, liver failure and dyslipidemia. There is currently no standard treatment for LAL-D other than supportive care. Enzyme replacement therapy may be a potential new treatment option for LAL-D participants.

Detailed Description

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Lysosomal acid lipase deficiency (LAL-D) is a genetic disease characterized by abnormal lipid accumulation in many parts of the body due to a marked decrease in activity of the enzyme lysosomal acid lipase (LAL).

The LAL-D disease spectrum ranges from a presentation in infants that is rapidly progressive to a presentation that occurs in childhood, adolescence, or less frequently, in adulthood in which the rate of disease progression is more variable. Irrespective of where a patient is on the disease spectrum, LAL-D is associated with significant burden of disease and a shortened life expectancy in some patients.

The non-infantile onset form of the disease, also known as CESD, occurs in both children and adults and is an under-appreciated cause of fatty liver with prominent microvesicular steatosis, fibrosis, and cirrhosis. Although the natural history of the disease has not been well studied, serious complications are frequently described, including early death, liver transplantation, or cardiovascular accidents. Other complications include premature atherosclerosis (hardening of arteries) associated with high levels of total cholesterol and low-density lipoprotein (LDL) cholesterol, often called the "bad" cholesterol. The levels of triglycerides can also be high and the levels of high-density lipoprotein (HDL) cholesterol (the "good" cholesterol) are typically low.

In the past, treatments mainly focused on control of the lipid abnormalities through diet and the use of lipid-lowering medications, which only address some aspects of the disease, while progression to fibrosis and cirrhosis may still occur. In preclinical studies and clinical studies in participants with LAL-D, treatment with SBC-102 (sebelipase alfa, Kanuma®) has been shown to produce improvements in markers of liver damage and in the lipid abnormalities. The purpose of this study was to examine the effects of using SBC-102 to treat LAL-D through a placebo-controlled, randomized, double-blinded study in children and adults.

This multicenter, randomized, double-blind, placebo-controlled study involving 66 participants evaluated the safety and efficacy of enzyme-replacement therapy with sebelipase alfa (administered intravenously at a dose of 1 mg/kg of body weight qow). The study included a 20-week placebo-controlled period followed by open-label treatment periods for all participants. The primary end-point was normalization of the alanine aminotransferase level. Secondary end-points included additional disease-related efficacy and safety assessments.

Final study results have not been published in a peer-reviewed journal.

Conditions

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Lysosomal Acid Lipase Deficiency

Keywords

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Enzyme replacement therapy (ERT) Lysosomal storage disease Late-onset lysosomal acid lipase deficiency (LAL-D) Acid cholesteryl ester hydrolase deficiency, type 2 Acid lipase disease Cholesterol ester hydrolase deficiency LAL-D LIPA deficiency Wolman disease Cholesterol ester storage disease (CESD)

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

TREATMENT

Blinding Strategy

QUADRUPLE

Participants Caregivers Investigators Outcome Assessors

Study Groups

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Double-blind Sebelipase Alfa

Double-blind Period: IV infusions of sebelipase alfa at a dose of 1 mg/kg administered qow for 20 weeks.

Group Type EXPERIMENTAL

Sebelipase Alfa

Intervention Type DRUG

IV infusions of sebelipase alfa

Double-blind Placebo

Double-blind Period: IV infusions of matched placebo administered qow for 20 weeks.

Group Type PLACEBO_COMPARATOR

Placebo

Intervention Type DRUG

IV infusions of matched placebo

Open-label Sebelipase Alfa/Sebelipase Alfa

Participants who were randomized to receive sebelipase alfa during the Double-blind Period and received sebelipase alfa in the Open-label Period. All participants received sebelipase alfa at a dose of 1 mg/kg qow, irrespective of treatment received in the Double-blind Period. Dose modifications were permitted during the Open-label Period.

Group Type EXPERIMENTAL

Sebelipase Alfa

Intervention Type DRUG

IV infusions of sebelipase alfa

Open-label Placebo/Sebelipase Alfa

Participants who were randomized to receive placebo during the Double-blind Period and received sebelipase alfa in the Open-label Period. All participants received sebelipase alfa at a dose of 1 mg/kg qow, irrespective of treatment received in the Double-blind Period. Dose modifications were permitted during the Open-label Period.

Group Type EXPERIMENTAL

Sebelipase Alfa

Intervention Type DRUG

IV infusions of sebelipase alfa

Interventions

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Sebelipase Alfa

IV infusions of sebelipase alfa

Intervention Type DRUG

Placebo

IV infusions of matched placebo

Intervention Type DRUG

Other Intervention Names

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SBC-102

Eligibility Criteria

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Inclusion Criteria

* Participant and/or participant's parent or legal guardian provided informed consent.
* Participant was ≥ 4 years of age on the date of informed consent.
* Deficiency of LAL enzyme activity confirmed by dried blood spot testing at screening.
* Alanine aminotransferase ≥ 1.5x upper limit of normal on 2 consecutive screening measurements obtained at least 1 week apart.
* Female participants of childbearing potential must not have been pregnant or breastfeeding and must have agreed to use a medically acceptable method of preventing contraception from screening until 4 weeks after the last dose of study drug.
* Participant receiving lipid-lowering therapies must have been on a stable dose of the medication for at least 6 weeks prior to randomization and was willing to remain on a stable dose for at least the first 32 weeks of treatment in the study.
* Participant receiving medications for the treatment of nonalcoholic fatty liver disease must have been on a stable dose for at least 16 weeks prior to randomization and was willing to remain on a stable dose for at least the first 32 weeks of treatment in the study.

Exclusion Criteria

* Severe hepatic dysfunction (Child-Pugh Class C).
* Other medical conditions or comorbidities, which, in the opinion of the Investigator, would have interfered with study compliance or data interpretation.
* Previous hematopoietic or liver transplant procedure.
* Received treatment with high-dose corticosteroids (acute or chronic) within 26 weeks. (Note: Participants receiving maintenance therapy with low-dose oral, intranasal, topical, or inhaled corticosteroids were considered eligible for the study).
* Known hypersensitivity to eggs.
* Participated in a study employing an investigational medicinal product within 4 weeks prior to randomization.
Minimum Eligible Age

4 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Alexion Pharmaceuticals, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Florian Abel, MD

Role: STUDY_DIRECTOR

Alexion Pharmaceuticals, Inc.

Locations

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Tucson, Arizona, United States

Site Status

Palo Alto, California, United States

Site Status

San Francisco, California, United States

Site Status

Wilmington, Delaware, United States

Site Status

Chicago, Illinois, United States

Site Status

Boston, Massachusetts, United States

Site Status

Buffalo, New York, United States

Site Status

Manhasset, New York, United States

Site Status

New York, New York, United States

Site Status

Cincinnati, Ohio, United States

Site Status

Philadelphia, Pennsylvania, United States

Site Status

Córdoba, , Argentina

Site Status

Brisbane, , Australia

Site Status

New Lambton, , Australia

Site Status

Parkville, , Australia

Site Status

Perth, , Australia

Site Status

Zagreb, , Croatia

Site Status

Olomouc, , Czechia

Site Status

Prague, , Czechia

Site Status

Paris, , France

Site Status

Vandœuvre-lès-Nancy, , France

Site Status

Freiburg im Breisgau, , Germany

Site Status

Mainz, , Germany

Site Status

Munich, , Germany

Site Status

Bergamo, , Italy

Site Status

Genoa, , Italy

Site Status

Padua, , Italy

Site Status

Tokyo, , Japan

Site Status

Tottori, , Japan

Site Status

Mexico City, , Mexico

Site Status

Warsaw, , Poland

Site Status

Moscow, , Russia

Site Status

Elche, , Spain

Site Status

Madrid, , Spain

Site Status

Oviedo, , Spain

Site Status

Ankara, , Turkey (Türkiye)

Site Status

Izmir, , Turkey (Türkiye)

Site Status

Cambridge, , United Kingdom

Site Status

London, , United Kingdom

Site Status

Plymouth, , United Kingdom

Site Status

Countries

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Brazil Canada Greece Israel United States Argentina Australia Croatia Czechia France Germany Italy Japan Mexico Poland Russia Spain Turkey (Türkiye) United Kingdom

References

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Wilson DP, Friedman M, Marulkar S, Hamby T, Bruckert E. Sebelipase alfa improves atherogenic biomarkers in adults and children with lysosomal acid lipase deficiency. J Clin Lipidol. 2018 May-Jun;12(3):604-614. doi: 10.1016/j.jacl.2018.02.020. Epub 2018 Mar 9.

Reference Type BACKGROUND
PMID: 29628368 (View on PubMed)

Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sanchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med. 2015 Sep 10;373(11):1010-20. doi: 10.1056/NEJMoa1501365.

Reference Type BACKGROUND
PMID: 26352813 (View on PubMed)

Burton BK, Feillet F, Furuya KN, Marulkar S, Balwani M. Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study. J Hepatol. 2022 Mar;76(3):577-587. doi: 10.1016/j.jhep.2021.10.026. Epub 2021 Nov 10.

Reference Type DERIVED
PMID: 34774639 (View on PubMed)

Valayannopoulos V, Malinova V, Honzik T, Balwani M, Breen C, Deegan PB, Enns GM, Jones SA, Kane JP, Stock EO, Tripuraneni R, Eckert S, Schneider E, Hamilton G, Middleton MS, Sirlin C, Kessler B, Bourdon C, Boyadjiev SA, Sharma R, Twelves C, Whitley CB, Quinn AG. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014 Nov;61(5):1135-42. doi: 10.1016/j.jhep.2014.06.022. Epub 2014 Jun 30.

Reference Type DERIVED
PMID: 24993530 (View on PubMed)

Other Identifiers

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LAL-CL02

Identifier Type: -

Identifier Source: org_study_id