Delving into the Latest Updates on Sebelipase Alfa with Synapse

RegulationBreakthrough Therapy (United States), Fast Track (United States), Orphan Drug (United States), Orphan Drug (European Union), Orphan Drug (South Korea)

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Structure/Sequence

Sequence Code 1216633

Source: *****

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.

Start Date22 Jan 2013

Sponsor / Collaborator

Alexion Pharmaceuticals, Inc.

100 Clinical Results associated with Sebelipase Alfa

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100 Translational Medicine associated with Sebelipase Alfa

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100 Patents (Medical) associated with Sebelipase Alfa

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52

Literatures (Medical) associated with Sebelipase Alfa

01 Sep 2025·Liver International

Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry

Article

Author: D'Antiga, Lorenzo ; Wilson, Don P. ; Balwani, Manisha ; Ros, Emilio ; Evans, Jennifer ; Balistreri, William ; Abel, Florian

ABSTRACT:

Background and Aims:

In patients with lysosomal acid lipase deficiency (LAL‐D), elevations in alanine and aspartate aminotransferases (ALT, AST) are associated with liver damage. The objective of this analysis was to evaluate aminotransferase levels in patients treated with sebelipase alfa enzyme replacement therapy and untreated patients.

Methods:

Patients in this observational study were from the International LAL‐D Registry and included untreated and treated patients who started sebelipase alfa at age ≥ 6 months. Patients in the longitudinal analysis must have had baseline and longitudinal measures of ALT or AST. A subanalysis was performed on data from patients with 3 consecutive annual follow‐up measures.

Results:

Of 186 patients included in this analysis, 125 were treated with sebelipase alfa. Median age at diagnosis was 9.1 y for treated patients and 20.6 y for untreated patients. Baseline ALT levels were above the upper limit of normal in 93% of children aged < 18 years and 68% of adults aged ≥ 18 years. Among 53 treated patients who had ALT results reported at 3 consecutive annual measurements, 22 (42%) had ALT levels within normal limits after 1 year of sebelipase alfa treatment. Results were similar for AST. A repeated measures regression model of data from treated patients showed significant reductions from baseline in both ALT and AST levels across 3 years of the study. Untreated patients had no appreciable changes in aminotransferase elevations over time.

Conclusions:

Aminotransferase levels were elevated in most patients with LAL‐D at baseline. There were sustained improvements with sebelipase alfa treatment.

Trial Registration:

International LAL‐D Registry: NCT01633489, EUPAS13276

01 Aug 2025·Journal of Clinical Lipidology

Enzyme replacement therapy in cholesteryl ester storage disease: A case report on lysosomal acid lipase deficiency management

Article

Author: Ibarra-Ramírez, Marisol ; Martínez de Villarreal, Laura E ; Cura-Esquivel, Idalia ; Hinojosa-Amaya, Leonor ; Torres-Flores, Ulises

BACKGROUND:

Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive disorder caused by pathogenic variants in the LIPA gene. The clinical spectrum ranges from early-onset Wolman disease to later presentations in childhood and adulthood, formerly known as cholesteryl ester storage disease (CESD). Impaired lysosomal acid lipase (LAL) activity leads to the accumulation of cholesteryl esters and triglycerides, causing progressive hepatic and metabolic dysfunction.

CASE PRESENTATION:

We describe a 17-year-old Mexican female diagnosed with CESD at age 13 after evaluation for short stature and severe hypercholesterolemia. Laboratory workup revealed markedly elevated liver enzymes and lipid levels, with severely reduced LAL activity. Molecular testing identified a homozygous LIPA(NM_000235.3):c.894G>A variant. Enzyme replacement therapy (ERT) with sebelipase alfa (1 mg/kg biweekly) was initiated, leading to progressive normalization of lipid and hepatic profiles. Over a 48-month follow-up, the patient exhibited catch-up growth (gain of 17 cm and 21 kg), pubertal development with the onset of menarche at age 16, and achievement of Tanner stage III.

CONCLUSION:

This case underscores the importance of early recognition of CESD in patients with unexplained dyslipidemia, elevated liver enzymes, and growth delay. Timely initiation of sebelipase alfa resulted in favorable biochemical and clinical outcomes. Comprehensive diagnostic evaluation-including enzymatic and genetic testing-is critical for accurate diagnosis and personalized management of LAL-D.

01 May 2025·Journal of Clinical Lipidology

Successful pregnancy outcome in a woman with cholesteryl ester storage disease treated with enzyme replacement therapy

Article

Author: Iwanaga, Naoko ; Minami, Manabu ; Konagai, Nao ; Yoshimatsu, Jun

Cholesteryl ester storage disease (CESD) is a rare autosomal recessive metabolic disorder resulting from a deficiency of lysosomal acid lipase (LAL). It is characterized by the accumulation of cholesterol esters in various tissues, leading to atherosclerotic diseases or severe hepatic dysfunction in younger individuals. Pregnancy has remained an essential challenge for women with CESD because of the poor prognosis. Enzyme replacement therapy (ERT) using sebelipase alfa, a recombinant form of LAL, is effective in improving lipid profiles and reversing liver dysfunction in patients with CESD. This novel therapy may facilitate safer pregnancy outcomes. This report details the experience of a 30-year-old pregnant woman with CESD who received ERT. Given the absence of CESD complications, colestimide was the only medication administered during pregnancy. The patient had a full-term vaginal delivery with no obstetric complications or fetal congenital anomalies. Following delivery, transient triglycerides, low-density lipoprotein-cholesterol, and liver enzyme increases were observed. However, restarting ERT led to a gradual improvement in the liver function and lipid profile.

14

News (Medical) associated with Sebelipase Alfa

29 Feb 2024

·www.pharmaceutical-technology.com

NHS expedites availability of Belumosudil for chronic GVHD

The once-daily tablet hinders proteins that trigger the severe inflammatory response linked to chronic GVHD. Credit: fizkes / Shutterstock.com. The National Health Service (NHS) in the UK has expedited the availability of the new drug, Belumosudil (Rezurock), for cancer patients with chronic graft versus host disease (GVHD). The decision provides a treatment that can be administered in the at-home setting, reducing hospital visits. Administered as a once-daily tablet, Belumosudil hinders proteins that trigger the severe inflammatory response linked to chronic GVHD. Clinical trials have demonstrated that up to three-quarters of the subjects responded to the therapy, with significant effectiveness in treating symptoms affecting the mouth, intestine or joints. The treatment is accessible through the NHS England’s Innovative Medicines Fund, which fast-tracks the delivery of the most promising non-cancer drugs to patients. See Also: AbbVie licenses OSE’s chronic inflammation therapy for $48m upfront DNTH-103 by Dianthus Therapeutics for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): Likelihood of Approval Chronic GVHD is a rare but serious condition that can occur after a life-saving stem cell transplant. White blood cells in the donated tissue attack the patient’s organs and weaken their immune system. Approximately one-third of patients who receive stem cell or bone marrow transplants for blood cancers such as leukaemia and lymphoma can develop chronic GVHD. Around 1,200 patients in England undergo such transplants each year. Around 400 go on to develop the condition, which is sometimes mild but for one in ten cases is fatal. For half of patients with chronic GVHD, existing therapies such as pentostatin, rituximab and imatinib are ineffective. Belumosudil will now be made available for 200 severely affected patients who have not responded to two previous therapies. This development comes after the NHS decided to fast-track the funding for the drug based on clinical guidance from the UK National Institute of Health and Care Excellence ( Nice ). Belumosudil is the fourth therapy offered to patients through the Innovative Medicines Fund. In September 2023, the NHS used the fund to roll out Sebelipase alfa, a therapy for treating Wolman’s disease, a rare genetic ailment. NHS England specialised services medical director James Palmer stated: “This rollout is a real breakthrough for patients with graft versus host disease and it will help people living with this debilitating condition effectively manage their symptoms and enhance their quality of life and daily functioning. “It’s great news that the NHS has been able to fast-track funding for a treatment which will have a significant impact for hundreds of patients over the coming years.”

Clinical Result

27 Nov 2023

·www.pmlive.com

AstraZeneca's rare disease unit receives NICE recommendation for Wolman disease therapy in infants

AstraZeneca's rare disease unit has received a recommendation from the National Institute for Health and Care Excellence (NICE) for the use of its enzyme replacement therapy in infants with Wolman disease. Alexion’s Kanuma (sebelipase alfa), which has been specifically recommended for use in patients who are aged two years or younger when administration begins, will now become the first treatment available on the NHS for the rapidly-progressive rare genetic disease. Occurring in around one in 350,000 births, Wolman disease causes a build-up of fat in cells in the liver, heart, blood vessels and digestive system. Symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhoea, developmental delay and anaemia. Until now, standard care for the disease has been palliative and limited to managing symptoms, with patients normally not surviving past the age of one without treatment. Administered as weekly intravenous infusions which can be given at home alongside a restricted low-fat diet, Kanuma works by replacing an enzyme missing in the body. Some patients may also have a blood and marrow/stem cell transplant. NHS chief executive, Amanda Pritchard, said: “I am delighted the NHS can now, for the first time, offer a life-changing treatment to families facing this enormously difficult condition. “Where previously there were no treatments available for infants facing this debilitating disease, this new therapy could save families from facing indescribable grief and allow more children… to grow up, go to school and live normal lives.” The therapy will now be fast-tracked via NHS England’s Innovative Medicines Fund to enable routine patient access up to five months earlier than would otherwise be the case. Sean Richardson, vice president and general manager, Alexion, UK, described NICE’s decision as a “milestone moment for infants born with Wolman Disease and their families”. He continued: “The recommendation is the result of continued constructive collaboration between Alexion, NICE, NHS England, patient groups and the medical community, to ensure babies born with this life-threatening disease have a treatment available to them.”

Drug Approval

02 Oct 2023

·www.prnewswire.com

Global Enzyme Replacement Therapy (ERT) Markets, 2017-2022, 2022-2027F, 2032F: Lamzede's FDA Approval Paves the Way for a Brighter Future in Enzyme Replacement Therapies

DUBLIN, Oct. 2, 2023 /PRNewswire/ -- The "Enzyme Replacement Therapy Global Market Report 2023" report has been added to ResearchAndMarkets.com's offering. The global enzyme replacement therapy market is expected to grow from $10.03 billion in 2022 to $10.85 billion in 2023 at a compound annual growth rate (CAGR) of 8.1%. The market is expected to reach $14.79 billion in 2027 at a CAGR of 8.1%. In the forefront of medical advancement, the enzyme replacement therapy (ERT) market stands tall, offering vital treatment avenues for individuals grappling with chronic disorders arising from enzyme deficiencies. The research report delves deep into the nuances of the ERT sector, highlighting market statistics, regional shares, and key players commanding significant market share. ERT's pivotal role in normalizing urinary GAG levels and promoting liver and spleen health is becoming increasingly recognized. Primary enzymes like agalsidase alfa - a critical tool in the combat against Fabry's disease - are reshaping the therapeutic landscape. Our comprehensive report also categorizes other prominent enzymes used, shedding light on their applications in conditions such as Gaucher disease, Pompe disease, and more. A spotlight trend in the ERT realm is the surge in product approvals. For instance, the recent FDA nod to Lamzede (velmanase alfa) in February 2023 marked a significant milestone. As the inaugural enzyme replacement therapy greenlit in the U.S for tackling the non-central neurological manifestations of alpha-mannosidosis, Lamzede offers a promising beacon of hope. Moreover, with the escalating prevalence of rare, chronic, and genetic disorders, the ERT market trajectory looks set for robust growth. The U.S National Library of Medicine projects a near-doubling of individuals aged 50 and above with a chronic ailment by 2050, further emphasizing the critical need for effective enzyme replacement therapies. The report also touches upon the market revenues, detailing contributions from key treatments like Sebelipase alfa, Elosulfase alfa, and more. Our exhaustive coverage ensures businesses and stakeholders are well-armed with insights to navigate the dynamic ERT ecosystem. In a geographical context, while North America reigned supreme in the ERT domain in 2022, the forecasted period paints a promising picture for the Asia-Pacific region. Our study covers a broad spectrum of nations from Australia to the USA, offering a global perspective on this burgeoning market. Harness the power of data-driven insights, industry trends, and strategic opportunities with our comprehensive report, and be poised at the cusp of ERT innovations and advancements. Major players in the enzyme replacement therapy market are Biomarin Pharmaceutical Inc. Leadiant Biosciences Inc. Pfizer Inc. Sanofi S.A. AbbVie Inc. Takeda Pharmaceutical Company Limited Protalix BioTherapeutics Inc. Amicus Therapeutics Inc. Johnson & Johnson Services Inc. Digestive Care Inc. Nestle Health Science Alexion Pharmaceuticals Inc. Allergan Plc. Actelion Pharmaceuticals Ltd. CANbridge Life Sciences Ltd. Chiesi Farmaceutici S.P.A. Astrazeneca Plc. Genzyme Corporation JCR Pharmaceutical Co. Ltd. TEIJIN LIMITED Horizon Therapeutics Plc. Perseo Pharma AG SmartPharm Therapeutics Inc. Key Topics Covered: 1. Executive Summary 2. Enzyme Replacement Therapy Market Characteristics 3. Enzyme Replacement Therapy Market Trends And Strategies 4. Enzyme Replacement Therapy Market - Macro Economic Scenario 4.1. COVID-19 Impact On Enzyme Replacement Therapy Market 4.2. Ukraine-Russia War Impact On Enzyme Replacement Therapy Market 4.3. Impact Of High Inflation On Enzyme Replacement Therapy Market 5. Enzyme Replacement Therapy Market Size And Growth 5.1. Global Enzyme Replacement Therapy Historic Market, 2017-2022, $ Billion 5.1.1. Drivers Of The Market 5.1.2. Restraints On The Market 5.2. Global Enzyme Replacement Therapy Forecast Market, 2022-2027F, 2032F, $ Billion 5.2.1. Drivers Of The Market 5.2.2. Restraints On the Market 6. Enzyme Replacement Therapy Market Segmentation 6.1. Global Enzyme Replacement Therapy Market, Segmentation By Enzyme Type, Historic and Forecast, 2017-2022, 2022-2027F, 2032F, $ Billion Agalsidase Alfa Agalsidase Beta Galsulfase Other Enzyme Types 6.2. Global Enzyme Replacement Therapy Market, Segmentation By Application, Historic and Forecast, 2017-2022, 2022-2027F, 2032F, $ Billion Gaucher Disease Pompe Disease Fabry Disease Other Applications 6.3. Global Enzyme Replacement Therapy Market, Segmentation By Route Of Administration, Historic and Forecast, 2017-2022, 2022-2027F, 2032F, $ Billion Oral Parenteral 6.4. Global Enzyme Replacement Therapy Market, Segmentation By End-Users, Historic and Forecast, 2017-2022, 2022-2027F, 2032F, $ Billion Hospitals Infusion Centers Other End-Users 7. Enzyme Replacement Therapy Market Regional And Country Analysis 7.1. Global Enzyme Replacement Therapy Market, Split By Region, Historic and Forecast, 2017-2022, 2022-2027F, 2032F, $ Billion 7.2. Global Enzyme Replacement Therapy Market, Split By Country, Historic and Forecast, 2017-2022, 2022-2027F, 2032F, $ Billion For more information about this report visit About ResearchAndMarkets.com ResearchAndMarkets.com is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends. Media Contact: Research and Markets Laura Wood, Senior Manager [email protected] For E.S.T Office Hours Call +1-917-300-0470 For U.S./CAN Toll Free Call +1-800-526-8630 For GMT Office Hours Call +353-1-416-8900 U.S. Fax: 646-607-1904 Fax (outside U.S.): +353-1-481-1716 Logo: SOURCE Research and Markets

100 Deals associated with Sebelipase Alfa

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KEGG	Wiki	ATC	Drug Bank
D10377	Sebelipase Alfa	A16AB14	DB11563

R&D Status

Approved

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Indication	Country/Location	Organization	Date
Cholesterol Ester Storage Disease	United Kingdom	AstraZeneca PLC	31 Jan 2016
Wolman Disease	European Union	Alexion Europe SAS	28 Aug 2015
Wolman Disease	Iceland	Alexion Europe SAS	28 Aug 2015
Wolman Disease	Liechtenstein	Alexion Europe SAS	28 Aug 2015
Wolman Disease	Norway	Alexion Europe SAS	28 Aug 2015

Developing

10 top R&D records.

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Indication	Highest Phase	Country/Location	Organization	Date
Failure to Thrive	Phase 3	United States	Alexion Pharmaceuticals, Inc.	04 May 2011
Failure to Thrive	Phase 3	Egypt	Alexion Pharmaceuticals, Inc.	04 May 2011
Failure to Thrive	Phase 3	France	Alexion Pharmaceuticals, Inc.	04 May 2011
Failure to Thrive	Phase 3	Ireland	Alexion Pharmaceuticals, Inc.	04 May 2011
Failure to Thrive	Phase 3	United Kingdom	Alexion Pharmaceuticals, Inc.	04 May 2011
Myocarditis	Phase 2	United States	Alexion Pharmaceuticals, Inc.	12 Dec 2011
Myocarditis	Phase 2	Canada	Alexion Pharmaceuticals, Inc.	12 Dec 2011
Myocarditis	Phase 2	Czechia	Alexion Pharmaceuticals, Inc.	12 Dec 2011
Myocarditis	Phase 2	France	Alexion Pharmaceuticals, Inc.	12 Dec 2011
Myocarditis	Phase 2	United Kingdom	Alexion Pharmaceuticals, Inc.	12 Dec 2011

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Clinical Result

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Study	Phase	Population	Analyzed Enrollment	Group	Results	Evaluation	Publication Date


NCT02112994 (Pubmed \| J Pediatr Gastroenterol Nutr) Manual	Phase 2	Wolman Disease	31	Sebelipase Alfa	yplcfmfywt(ciwrsnhtmx) = positive 2 pts qdbfdtrplm (zzijpfvgyp ) View more	Positive	20 Apr 2022
				Sebelipase alfa 3.0 mg/kg qow and 3.0 mg/kg weekly
NCT01757184 (ARISE, Pubmed \| J Hepatol) Manual	Phase 3	Wolman Disease	59	Sebelipase Alfa	lzozhdwpsh(xjrtkfsmfb) = ktamxjvxkh wvhdkbgaqi (jyejeymojq ) View more	Positive	01 Mar 2022
NCT01488097 (LAL-CL04, Pubmed \| Liver Int) Manual	Phase 2	Wolman Disease	8	Sebelipase alfa	brwyjujheb(pfnlitihgg) = dkzicrbkwp hcudbgasjd (avbwstudpy ) View more	Positive	01 Sep 2020
				Sebelipase alfa 3.0 mg/kg	-
NCT02193867 (CTgov)	Phase 2	Wolman Disease	10	Sebelipase Alfa	gfdqhpujtq = zkunfvldyr vykzximvbd (uhcjtglhrc, nnwlfrmgbp - qrdhayqpux) View more	-	18 Nov 2019
SSIEM2019	Not Applicable	Wolman Disease	19	Sebelipase alfa	brbseldiiv(wgsmykgplm) = Of 17 patients tested for ADAs, 10 had detectable titers and 8 developed neutralizing antibodies cgcyvvdkbt (imhhvdmtiq ) View more	-	25 Aug 2019
EASL2019	Not Applicable	Wolman Disease	31	Sebelipase alfa 1.0 mg/kg	hpeuewsqvm(zivdttsosu) = qjtmfcgufs jalnramyfu (tkgxfcewyl ) View more	Positive	13 Apr 2019
				Sebelipase alfa 3.0 mg/kg	hpeuewsqvm(zivdttsosu) = uyeyggclyr jalnramyfu (tkgxfcewyl ) View more
NCT02112994 (CTgov)	Phase 2	Wolman Disease	31	Sebelipase Alfa	ywmxcmgfho = dzciyjhlxm fkxyrlmanr (ykjyasvshi, pixcucsbcu - ixpcvepthy) View more	-	15 Jan 2019
NCT01307098 (CTgov)	Phase 1/2	Wolman Disease	9	Sebelipase alfa 0.35 mg/kg (Sebelipase Alfa 0.35 mg/kg)	xokgygriok = fkvdkbxwhb icqtiqclas (bexxffgreg, bsoriqpfah - rpqltwtqmx) View more	-	11 Dec 2018
				Sebelipase alfa 1 mg/kg (Sebelipase Alfa 1 mg/kg)	xokgygriok = qnowisjzjf icqtiqclas (bexxffgreg, mwasvxcvfq - bqucjkismp) View more
NCT01371825 (VITAL, Pubmed \| Orphanet J Rare Dis) Manual	Phase 2/3	Wolman Disease	30	sebelipase Alfa	hflqtdfmht(vihqmmcufe) = ziycmzgpxl wycunssmkj (lckxlfrgef, 30 - 93) View more	Positive	08 Feb 2017
				historical control	hflqtdfmht(vihqmmcufe) = ccrcfddgxs wycunssmkj (lckxlfrgef, 0 - 16)
NCT01488097 (LAL-CL04, CTgov)	Phase 2	Wolman Disease	8	sebelipase alfa	rxmrozmqgv = adqplchzdt nrkcjvyumj (mhwopgeuhm, lrqeaykhoa - yezoawcupv) View more	-	09 May 2016

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Sebelipase Alfa

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