Delving into the Latest Updates on Sebelipase Alfa with Synapse

RegulationFast Track (United States), Orphan Drug (United States), Orphan Drug (European Union), Orphan Drug (South Korea), Breakthrough Therapy (United States)

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Structure/Sequence

Sequence Code 1216633

Source: *****

Cholesterol ester storage disease (CESD) is a rare autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene, leading to reduced lysosomal acid lipase activity, cholesterol ester accumulation, and systemic manifestations including liver dysfunction and dyslipidemia. We report the case of a 25-year-old male presenting with subacute jaundice, hyperbilirubinemia (total bilirubin 51 mg/dL, predominantly direct), and dyslipidemia characterized by elevated total cholesterol and low HDL cholesterol levels. Initial diagnostic workup for acute hepatitis and liver dysfunction, including serological and imaging studies, was unremarkable. Liver biopsy revealed canalicular cholestasis and T-lymphocyte infiltration without fibrosis, raising suspicion for a metabolic or genetic etiology. Genetic analysis confirmed a heterozygous pathogenic mutation (c.894 G>A) in the LIPA gene, establishing the diagnosis of CESD. The patient required advanced management with a molecular adsorbent recirculating system to address refractory hyperbilirubinemia. CESD often mimics other metabolic and hepatic conditions, such as familial hypercholesterolemia or non-alcoholic fatty liver disease, necessitating high clinical suspicion and genetic confirmation for diagnosis. This case underscores the importance of recognizing CESD in patients with atypical dyslipidemia and persistent hepatic abnormalities, as early identification enables targeted therapeutic interventions, including Sebelipase alfa enzyme replacement therapy.

08 Nov 2024·Cureus Journal of Medical Science

Lysosomal Acid Lipase Deficiency: A Report of Two Cases and a Review of the Literature

Article

Author: Pacurar, Daniela ; Patrascoiu, Marina ; Oprescu, Ioana ; Nedelcu, Calin ; Dijmarescu, Irina

Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive genetic disease arising from mutations in the lipase A, lysosomal acid type (LIPA) gene, characterised by the formation of cholesterol esters and triglyceride storages, primarily in the liver and spleen. By analysing the level of lysosomal acid lipase (LAL), two forms were described in the literature: Wolman disease and cholesteryl-ester storage disease (CESD). Wolman disease usually manifests with rapidly progressive symptoms within the first year of life, while CESD is a latent condition, with significant features appearing later in life. LAL-D usually presents with a non-specific tableau, thus having the possibility of being incorrectly labelled. LAL activity can be demonstrated by LAL dried blood spot (DBS) testing. Since 2015, sebelipase alfa has been authorised for the treatment of LAL-D in the European Union, changing the course of this disease. This article aims to present two clinical cases of CESD and review the current literature on LAL-D. We presented two cases of CESD who were evaluated in our department for chronically elevated transaminases, one with and one without dyslipidaemia. For both patients, other causes of chronic hepatitis were excluded (viral infections, autoimmune diseases, and metabolic diseases), and LAL DBS testing was positive, establishing the diagnosis of CESD. One of them also underwent genetic testing, and a homozygous mutation of the LIPA gene was identified. LAL-D is a difficult diagnosis to establish, considering the scarcity of knowledge. In addition, neither the LAL DBS test nor LIPA gene sequencing investigations are largely available. Thus, most asymptomatic or minimally symptomatic patients might remain undiagnosed, and multiple complications without clear aetiology might arise, making this disease even harder to diagnose and manage. Nevertheless, even though the introduction of enzyme replacement therapy has improved outcomes for many patients, there still remains a need for increased awareness and understanding of this rare condition among health professionals.

01 Apr 2024·Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

A 14‐step desensitization protocol for sebelipase alfa hypersensitivity in a patient with Wolman disease and secondary hemophagocytic lymphohistiocytosis

Article

Author: Nguyen, Minh H N ; Hajirawala, Monica ; Kim, Alexander Y ; Denhardt, Brenna ; Lyons, Shannon ; Moore, Jenna ; Abel, Trent ; Bruening, Rachel ; Sriaroon, Panida

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

10 top approved records.

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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
Gilbert Disease	Phase 2	United States	Alexion Pharmaceuticals, Inc.	12 Dec 2011
Gilbert Disease	Phase 2	Canada	Alexion Pharmaceuticals, Inc.	12 Dec 2011
Gilbert Disease	Phase 2	Czechia	Alexion Pharmaceuticals, Inc.	12 Dec 2011
Gilbert Disease	Phase 2	France	Alexion Pharmaceuticals, Inc.	12 Dec 2011
Gilbert Disease	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	cyymfyweyy(vrwznqazrl) = positive 2 pts yppghktfcl (bddvibqyvl ) 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	ofoyisvkfj(equuqtuaur) = kgzqvukgae mqseoyxkoj (bdhvfkovot ) View more	Positive	01 Mar 2022
NCT01488097 (LAL-CL04, Pubmed \| Liver Int) Manual	Phase 2	Wolman Disease	8	Sebelipase alfa	mxxshvgohg(kxajlssgfv) = tnllyzooiy zdjesouqie (oefcbicfkq ) View more	Positive	01 Sep 2020
				Sebelipase alfa 3.0 mg/kg	-
NCT02193867 (CTgov)	Phase 2	Wolman Disease	10	Sebelipase Alfa	egxweqdnim = jypwvixzin rkutxkvjon (flqdzzizyr, xqftsctzmt - rlvwcwjtpc) View more	-	18 Nov 2019
SSIEM2019	Not Applicable	Wolman Disease	19	Sebelipase alfa	zvcsbbpwdt(fhcbwkskfv) = Of 17 patients tested for ADAs, 10 had detectable titers and 8 developed neutralizing antibodies oocomhuasw (xwgxesgsku ) View more	-	25 Aug 2019
SSIEM2019	Not Applicable	Wolman Disease	-	Sebelipase alfa	bwxjxwixwx(mhzkeqolml) = qidsnxtleo fdflqmpozr (rufkbwbucm )	-	25 Aug 2019
LAL-CL06 (EASL2019)	Not Applicable	Wolman Disease	31	Sebelipase alfa 1.0 mg/kg	mndzvqqwma(dtzoypugsl) = npdteapjqc drblzmkrrp (fjtcnpzrhe ) View more	Positive	13 Apr 2019
				Sebelipase alfa 3.0 mg/kg	mndzvqqwma(dtzoypugsl) = wrykbsiagr drblzmkrrp (fjtcnpzrhe ) View more
NCT02112994 (CTgov)	Phase 2	Wolman Disease	31	Sebelipase Alfa	lreaebtamz = sajaqnixze bgjpctwkph (pyrfhhcmgc, fnrnfgjimz - bmtkqdddfn) View more	-	15 Jan 2019
NCT01307098 (CTgov)	Phase 1/2	Gilbert Disease \| Wolman Disease	9	Sebelipase alfa 0.35 mg/kg (Sebelipase Alfa 0.35 mg/kg)	ngrzvsclkm = eykgkkszto lrobytjvry (tajftxnqys, wbbnqoygkq - bwpuartche) View more	-	11 Dec 2018
				Sebelipase alfa 1 mg/kg (Sebelipase Alfa 1 mg/kg)	ngrzvsclkm = tejoaesolk lrobytjvry (tajftxnqys, bmtmqsbaer - figyxcuzkg) View more
NCT01371825 (VITAL, Pubmed \| Orphanet J Rare Dis) Manual	Phase 2/3	Wolman Disease	30	sebelipase Alfa	kgmatttveu(conslqqppd) = yoaybqmxnx ctbqfpyvwf (hqyhrvxenx, 30 - 93) View more	Positive	08 Feb 2017
				historical control	kgmatttveu(conslqqppd) = ayjkrxafzm ctbqfpyvwf (hqyhrvxenx, 0 - 16)

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Sebelipase Alfa

Overview

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Structure/Sequence

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Biosimilar

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