rare disease

NICE backs BioCryst’s Orladeyo for hereditary angioedema

BioCryst Pharma’s Orladeyo has been recommended by NICE as a treatment for the rare disease hereditary angioedema (HAE) in England, Wales and Northern Ireland. Orladeyo (berotralstat) – which was approved by the EMA and MHRA in April and May, respectively – is set to become the first oral, once-daily therapy that can be used to …

NICE backs BioCryst’s Orladeyo for hereditary angioedema Read More »

Astellas reports fourth death in halted gene therapy trial

There has been a fourth patient fatality in Astellas’ clinical trial of its AT132 gene therapy for the rare disease X-linked myotubular myopathy (XLMTM), which has been halted twice due to safety concerns. The latest suspension came after abnormal liver function tests (LFTs) were seen in a boy receiving the gene therapy, who has since …

Astellas reports fourth death in halted gene therapy trial Read More »

FDA slaps clinical hold on BioMarin’s PKU gene therapy

BioMarin Pharma has had another setback in its gene therapy development programme, announcing this morning that the FDA has placed a phase 1/2 trial of its candidate for phenylketonuria (PKU) on hold while it investigates a safety signal. The biotech said that the US regulator ordered the pause on the study after liver tumours were …

FDA slaps clinical hold on BioMarin’s PKU gene therapy Read More »

More trouble for Astellas as AT132 gene therapy trial is halted again

Astellas has halted dosing in a study of its AT132 gene therapy for the rare disease X-linked myotubular myopathy (XLMTM) for the second time after another serious adverse event (SAE) linked to possible liver damage. The ASPIRO trial of AT132 has been paused after abnormal liver function tests (LFTs) were seen in a patient receiving …

More trouble for Astellas as AT132 gene therapy trial is halted again Read More »

After Ultomiris stumble, Alexion delivers a rare disease win for AZ

A drug for Wilson disease developed by AstraZeneca’s Alexion rare disease unit has cleared a phase 3 trial, setting up regulatory filings in the coming months. The FoCus study of ALXN1840 showed that once-daily oral drug met its primary objective in improving a key biomarker in Wilson disease, a rare and progressive genetic condition in …

After Ultomiris stumble, Alexion delivers a rare disease win for AZ Read More »

Roche Signs a License Agreement with Shape to Advance AAV-based RNA Editing Technology for Neuroscience and Rare Disease

Shots: Shape is eligible to receive $3B+ including initial payment, development, regulatory, and sales milestone along with royalties on sales of therapies resulting from the collaboration The collaboration will utilize Shape’s RNA editing platform i.e., RNAfix and AAVid for next-generation tissue-specific AAVs to develop gene therapy for AD, PD & rare diseases Shape to conduct …

Roche Signs a License Agreement with Shape to Advance AAV-based RNA Editing Technology for Neuroscience and Rare Disease Read More »

NICE says yes to Novartis’ Rydapt for rare blood disorder

Novartis’ Rydapt has become the first and only licensed treatment for rare and life-threatening blood disorder systemic mastocytosis (SM) to be cleared for routine NHS use, after getting a green light from NICE. The decision means around 170 people with advanced SM in England and Wales will be eligible for  treatment with oral, twice-daily drug, …

NICE says yes to Novartis’ Rydapt for rare blood disorder Read More »

Ipsen hit by new palaver for rare disease drug palovarotene

Just as Ipsen’s $1 billion bet on rare bone disease drug palovarotene seemed to be nearing the finish line, it has fallen at the final hurdle. After a string of setbacks with the programme, Ipsen finally filed palovarotene with the FDA in May, earning a priority review. But the French drugmaker has already withdrawn it, …

Ipsen hit by new palaver for rare disease drug palovarotene Read More »

Merck’s Welireg becomes first drug for rare VHL tumours in US

Merck & Co has extended its range of cancer medicines in the US after claiming FDA approval for Welireg – a drug it acquired as part of its $2.2 billion takeover of Peloton Therapeutics in 2019 – for a family of rare tumours. The drug is part of Merck’s efforts to expand its oncology portfolio …

Merck’s Welireg becomes first drug for rare VHL tumours in US Read More »

Gene therapy specialist bluebird exits “untenable” European market

Europe market has proved so hostile to gene therapies when it comes to pricing and reimbursement for gene therapies that bluebird bio has decided to quit the market altogether, according to Andrew Obenshain, president of its severe genetic diseases unit. On the firm’s second-quarter results call, Obenshain said the biotech will start “an orderly wind-down” …

Gene therapy specialist bluebird exits “untenable” European market Read More »

Sanofi extends its Pompe range with first Nexviazyme OK

Sanofi has added another string to its Pompe disease therapy bow, after getting FDA approval for Nexviazyme, its latest therapy for the rare, inherited disorder. The US regulator has approved Nexviazyme (avalglucosidase alfa) for the treatment of patients aged one year of age and older with late-onset Pompe disease, which progressively attacks the heart and …

Sanofi extends its Pompe range with first Nexviazyme OK Read More »

Sanofi swoops on partner Translate, buying the mRNA firm for $3.2bn

Sanofi has been forging ever-closer ties with its mRNA partner Translate Bio since the two started working together in 2018, and has now gone all in, offering $3.2 billion to buy the company outright. The $38-per-share deal – a 56% premium to Translate’s recent share price before an after-hours surge in the stock on rumours …

Sanofi swoops on partner Translate, buying the mRNA firm for $3.2bn Read More »

Ipsen forges $1bn alliance with Exicure on neurodegenerative diseases

Ipsen’s new chief executive David Loew pledged to ramp up spending on the company’s pipeline when he took the helm last year, and a flurry of licensing deals in the last few weeks shows that push is starting to gather momentum. The French company – which focusing on cancer, neuroscience and rare diseases – has …

Ipsen forges $1bn alliance with Exicure on neurodegenerative diseases Read More »

Boost for AZ as Ultomiris gets CHMP nod for expanded label

Fresh from its takeover of Alexion, AstraZeneca has picked up a recommendation in the EU for an expansion of the label of Ultomiris, one of the main assets behind the $39 billion merger. The EMA’s Committee for Medicinal Products for Human Use (CHMP) has backed the approval of Ultomiris (ravulizumab) for children and adolescents with …

Boost for AZ as Ultomiris gets CHMP nod for expanded label Read More »

NHS sets aside £340m for new Innovative Medicines Fund

NHS England has matched its financial backing of the Cancer Drugs Fund (CDF) with an equivalent pot of money for a new Innovative Medicines Fund (IMF) that will provide early access to cutting-edge medicines like cell and gene therapies. It has proposed that the IMF will work in the same way as the CDF, funding …

NHS sets aside £340m for new Innovative Medicines Fund Read More »

Bluebird claims EU nod for rare disease therapy Skysona

Bluebird bio has its first approval for Skysona (formerly Lenti-D), its gene therapy for children with the rare disease cerebral adrenoleukodystrophy (CALD), after getting the nod from the EU regulatory authority. The EMA has cleared Skysona (elivaldogene autotemcel) for use in CALD patients aged under 18 who have an ABCD1 genetic mutation and no matched …

Bluebird claims EU nod for rare disease therapy Skysona Read More »

Final hurdle falls as UK backs AZ’s $39bn takeover of Alexion

The UK’s competition regulator has approved AstraZeneca’s $39 billion acquisition of US-based drugmaker Alexion, without opting for a broader inquiry into the deal. The nod from the Competition and Markets Authority (CMA) after an initial assessment means that it concluded no antitrust risks were associated with the deal. It was the final needed from a …

Final hurdle falls as UK backs AZ’s $39bn takeover of Alexion Read More »

Novo Nordisk bulks up in rare diseases with $1.2bn Prothena deal

Diabetes giant Novo Nordisk has opened a new front in its rare disease R&D, thanks to an acquisition agreement with Prothena focusing on drugs for ATTR amyloidosis. The Danish drugmaker is paying $100 million upfront for rights to antibody drug PRX004, which is heading for phase 2 trials in cardiomyopathy associated with ATTR amyloidosis, a …

Novo Nordisk bulks up in rare diseases with $1.2bn Prothena deal Read More »

NICE rejects Orchard’s gene therapy for rare childhood disease MLD

Orchard Therapeutics’ gene therapy for rare childhood disease metachromatic leukodystrophy (MLD) Libmeldy has been rejected for NHS use by NICE in draft guidance. The agency said that while there was evidence of a short-term benefit with Libmeldy (atidarsagene autotemcel or OTL-200), assumptions about its long-term effects are uncertain, making it unclear whether it will offer …

NICE rejects Orchard’s gene therapy for rare childhood disease MLD Read More »

Biogen’s ambitions in gene therapy hit by another failed pivotal trial

When Biogen acquired Nightstar Therapeutics in 2019, it added a pair inherited retinal disorder (IRD) gene therapies that it hoped would accelerate a push into the fast-evolving category.  Just over two years later, both of those candidates have failed late-stage clinical trials, leaving Biogen’s $800 million investment in Nightstar looking like a poor deal. The …

Biogen’s ambitions in gene therapy hit by another failed pivotal trial Read More »

How the patient voice is becoming vital for drug approval

Rebecca Sanders from Lipodystrophy UK tells us how the patient voice helped convince NICE to approve a much-needed drug for this rare disease, and explores how regulators and pharma companies can help make patient involvement in HTA more impactful. This article appears in our free digital magazine Deep Dive: Market Access 2021. Read below for …

How the patient voice is becoming vital for drug approval Read More »

EHA21: Novartis trumpets iptacopan as oral alternative to antibodies in PNH

The mainstay of therapy for the rare blood disease paroxysmal nocturnal hemoglobinuria (PNH) is Alexion’s infusion therapy Soliris, but Novartis’ iptacopan could provide an oral option after positive phase 2 trial results. The first-in-class therapy – a targeted factor B inhibitor – was able to “substantially” reduce the destruction of red blood cells (haemolysis) that …

EHA21: Novartis trumpets iptacopan as oral alternative to antibodies in PNH Read More »

EHA21: Sanofi builds case for rare disease drug sutimlimab after FDA rejection

Sanofi’s hopes of a speedy approval of first-in-class C1s inhibitor sutimlimab in rare disorder cold agglutinin disease (CAD) were dashed by the FDA, but new phase 3 data keep the drugmaker on track for a resubmission before year-end. The results of the 42-subject CADENZA study – reported at the ongoing European Haematology Association (EHA) – …

EHA21: Sanofi builds case for rare disease drug sutimlimab after FDA rejection Read More »

INVEST Precision Medicine conference kicks off today. Register now to be part of the conversation.

Register for the INVEST Precision Medicine conference, which kicks off today. Over the next three days industry experts will talk about precision medicine developments across pediatrics, bioinformatics, startups and more.

Sanofi’s venglustat bombs again, but isn’t dead yet

Shortly after failing a Parkinson’s disease study, Sanofi’s venglustat has missed the mark in another trial in autosomal dominant polycystic kidney disease (ADPKD), whittling down the list of possible uses for the drug even further.  Sanofi is still running studies of the glycosphingolipid (GSL) inhibitor in rare lysosomal storage diseases like Gaucher disease type 3, …

Sanofi’s venglustat bombs again, but isn’t dead yet Read More »

CHMP backs bluebird bio’s gene therapy for rare disease ALD

US biotech bluebird bio has had a challenging time in the last few months, so a recommendation for EU approval of its gene therapy for adrenoleukodystrophy (ALD) will give it a lift. The EMA’s Committee for Medicinal Products for Human Use (CHMP) has given the go-ahead to bluebird’s therapy – known as Skysona (elivaldogene autotemcel) …

CHMP backs bluebird bio’s gene therapy for rare disease ALD Read More »

Apellis set to take on Alexion as FDA clears PNH drug Empaveli

Apellis Pharma has secured FDA approval for its complement C3 inhibitor Empaveli as a treatment for paroxysmal nocturnal hemoglobinuria (PNH) – with a label that will allow it to challenge Alexion’s established therapies directly.  There had been speculation that the FDA might approve Empaveli (pegcetacoplan) only as a backup option for patients who don’t see …

Apellis set to take on Alexion as FDA clears PNH drug Empaveli Read More »

Scotland backs NHS use of Alexion’s Ultomiris for rare disease aHUS

NHS patients in Scotland with the rare disease atypical haemolytic uremic syndrome (aHUS) will now be able to access treatment with Alexion’s Ultomiris, ahead of their counterparts in England and Wales.  aHUS is an ultra-rare disease that can cause progressive injury to the kidneys via damage to the walls of blood vessels and blood clots …

Scotland backs NHS use of Alexion’s Ultomiris for rare disease aHUS Read More »

Silence Tx uses game to raise thalassaemia awareness

UK biotech Silence Therapeutics has launched an online game to raise the profile of the rare blood disorder thalassaemia, and one of its most common symptoms.  Blood Run Beta can be played online at www.bloodrunbeta.game and has been launched in the build-up to International Thalassaemia Day on Saturday 8 May. It aims to help players learn …

Silence Tx uses game to raise thalassaemia awareness Read More »

FDA sets September review date for Calliditas’ rare kidney disease drug

Calliditas Therapeutics could have its first product on the market in the US this autumn, as the FDA has now started a priority review of Nefecon for rare disease primary IgA nephropathy (IgAN).  The Swedish biotech says the IUS regulator has set an action date of 15 September for its review of Nefecon, a novel …

FDA sets September review date for Calliditas’ rare kidney disease drug Read More »

CHMP backs Roche’s Enspryng for rare nerve disease NMOSD

Roche’s Enspryng has been recommended for approval in the EU for treating neuromyelitis optica spectrum disorder (NMOSD), extending the treatment options for people with the life-threatening rare disease.  The CHMP has backed the drug in patients aged 12 or more with NMOSD that tests positive for aquaporin-4 (AQP4) antibodies, a biomarker seen in around 80% …

CHMP backs Roche’s Enspryng for rare nerve disease NMOSD Read More »

Calliditas eyes 2022 approval in EU for rare kidney disease drug Nefecon

Calliditas Therapeutics is on course to launch its first product, Nefecon for rare disease primary IgA nephropathy (IgAN), in the first half of 2022 after getting the green light for an accelerated review by the EMA.  The Swedish biotech is planning to file Nefecon for approval in the second quarter to the EU regulator, which …

Calliditas eyes 2022 approval in EU for rare kidney disease drug Nefecon Read More »

Centessa plans $100m IPO to fund R&D and potential acquisitions

Centessa has announced plans for a $100m US IPO just weeks after the company launched with $250m in private backing and an R&D powerhouse driven by the merger of 10 biotechs. In a filing with the Securities and Exchange Commission, Centessa said it plans to use proceeds to fund the development of the 16 drugs …

Centessa plans $100m IPO to fund R&D and potential acquisitions Read More »

Jazz lifted by third EU approval for GW Pharma’s Epidyolex

GW Pharmaceuticals’ Epidyolex has been approved in the EU for a third epilepsy indication, giving a boost for the company ahead of its $7.2 billion takeover by Jazz Pharma.  The cannabis-derived drug has been cleared by the EMA to treat seizures associated with tuberous sclerosis complex (TSC), a condition in which mostly benign tumours grow …

Jazz lifted by third EU approval for GW Pharma’s Epidyolex Read More »

Scotland opens door to Translarna for Duchenne muscular dystrophy

A disparity in UK access to a medicine for Duchenne muscular dystrophy (DMD) has been addressed, after Scotland gave a green light to use of PTC Therapeutics’ Translarna for the first time.  The Scottish Medicines Consortium (SMC) says that Translarna (ataluren) can be provided by NHS Scotland for a period of three years, once PTC …

Scotland opens door to Translarna for Duchenne muscular dystrophy Read More »

NICE backs Sobi’s Kineret for rare inflammatory disease

The UK’s cost-effectiveness agency NICE has recommended that Sobi’s Kineret can be used to treat NHS patients with Still’s disease, a rare form of arthritis affecting children and adults. The final guidance concludes that interleukin-1 receptor antagonist Kineret (anakinra) can be used as a treatment for two forms of Still’s, namely systemic juvenile idiopathic arthritis …

NICE backs Sobi’s Kineret for rare inflammatory disease Read More »

What are the Market Drivers Fueling the Rare Disease Market?

Rare diseases–also go by the name Orphan diseases–are the conditions that do not affect many individuals out there in one particular geographic area. Going deeper into the definition, it also means a lesser patient pool for a therapy developed for one identified rare condition. Unfavorable drug uptake would automatically yield a lesser return on the …

What are the Market Drivers Fueling the Rare Disease Market? Read More »

Expediting innovation in the rare disease domain

Rare diseases affect a fraction of the population – 450 million+ people globally. However, its effects can be equally severe and life-threatening as other prevalent diseases. For Rare Disease Day, Tarun Kumar Bansal discusses why we need to expedite innovation in the rare disease domain. Every time a patient with a rare condition walks into …

Expediting innovation in the rare disease domain Read More »

Switch data back Chiesi/Protalix long-acting Fabry drug

Chiesi and Protalix have built the case for their long-acting enzyme replacement therapy (ERT) for Fabry disease PRX-102, as the FDA’s review of the drug continues towards a decision due by 27 April.  New data from the phase 3 BRIGHT study of PRX-102 (pegunigalsidase alfa) shows that patients can be switched to the new drug …

Switch data back Chiesi/Protalix long-acting Fabry drug Read More »

Emerging Research Continues To Transform Erythropoietic Protoporphyria Market Outlook

Lack of knowledge about conditions, situations, or body ailments that are unexplainable often scares people and leads to people jumping to conclusions or say myths that are not at all backed by science and logic. Myths are a seemingly convenient way to explain what the mind perceives as unexplainable.  This, however, is not the case …

Emerging Research Continues To Transform Erythropoietic Protoporphyria Market Outlook Read More »

Hypofibrinogenemia Market: Limited Pipeline Therapies, Abundant Opportunities

Like troops at the forefront of any battle, our immune system continually marches to protect us from foreign elements and invaders, including bacteria, viruses, and others. Whenever with a swift wave of wind, something falls in our eyes, our immune system produces tears to get rid of the invader. Or at times when we scrape …

Hypofibrinogenemia Market: Limited Pipeline Therapies, Abundant Opportunities Read More »

The Paradox of Rare: Chalking out Challenges in the Rare Disease Market

How is a Rare disease defined? Well, it depends on the geography in question, since there is no universal definition, even so, the definition revolves around the point of prevalence or incidence of rare disease. However, despite the changing attributes in the definition, there is one common ground every country faces‒challenges in mapping the patient …

The Paradox of Rare: Chalking out Challenges in the Rare Disease Market Read More »

FDA approves Regeneron drug for rare, inherited form of high cholesterol

The FDA approval clears Regeneron’s drug, Evkeeza, as a treatment for the rarer of two forms of an inherited disease that causes high cholesterol levels. The company already markets Praluent, which treats the more common form of familial cholesterolemia.

KalVista Pharma plans pivotal test after HAE drug posts positive Phase 2 data

One year after losing Merck as a partner, KalVista reports mid-stage clinical data for a pill that could offer an alternative to injectable drugs for a rare, potentially life-threatening disease. KalVista plans to meet with the FDA about proceeding to a Phase 3 study.

Sobi gets EU nod for Doptelet in rare blood disorder ITP

Sweden’s Sobi has secured EU approval for Doptelet in primary chronic immune thrombocytopenia (ITP), an indication that the company expects to accelerate sales of the drug. Doptelet (avatrombopag) – an oral thrombopoietin receptor agonist – has been cleared to boost depleted levels of platelets in the blood of patients with ITP, an autoimmune clotting disorder …

Sobi gets EU nod for Doptelet in rare blood disorder ITP Read More »

Unlocking the potential in rare disease research with decentralised trials

A survey by rare disease patient network Raremark found that 86% of the community members asked were interested in taking part in clinical trials. CEO Jeremy Edwards looks at how decentralised trial models can solve some of the challenges for clinical trial recruitment in rare disease. With low and geographically dispersed patient populations in rare …

Unlocking the potential in rare disease research with decentralised trials Read More »

J&J’s Darzalex Faspro is first US therapy for rare blood disorder

Johnson & Johnson’s Darzalex Faspro has become the first product approved by the FDA to treat light chain (AL) amyloidosis, a rare and often fatal blood cell disorder. The new indication is the second for Darzalex Faspro, a subcutaneous version of blockbuster intravenous therapy Darzalex (daratumumab) which is used to treat multiple myeloma on its …

J&J’s Darzalex Faspro is first US therapy for rare blood disorder Read More »

How augmented intelligence and NLP can help clinicians, researchers identify rare diseases

To help clinicians diagnose rare disease more quickly and accurately, many healthcare organizations are embracing technology solutions like natural language processing (NLP) tools that can create augmented intelligence workflows that facilitate the rapid search of unstructured clinical data from multiple data sources.

Orphan Drug Policies Around the World

How do you incentivize pharmaceutical companies and researchers to develop new drugs for rare diseases? Drug development is expensive and–by definition–rare diseases have a small market. One solution to this problem is that governments have used orphan drug policies to provide monetary incentives for innovators to research drugs for rare diseases. But which countries have …

Orphan Drug Policies Around the World Read More »

Sarepta helps bankroll new gene therapy startup AavantiBio

Sarepta chief commercial officer Bo Cumbo has left to head up gene therapy venture – AavantiBio – with $107 million in backing from his former employer and three high-profile life sciences investors. Rare disease specialist Sarepta is putting up $15 million of that first-round financing, with the remainder coming from Perceptive Advisors, Bain Capital Life …

Sarepta helps bankroll new gene therapy startup AavantiBio Read More »

EMA starts rapid review of Bluebird’s gene therapy for rare disease CALD

Bluebird bio could be just a few months away from approval of its gene therapy for rare disease cerebral adrenoleukodystrophy (CALD) in the EU, after the EMA started an accelerated review. If approved, Lenti-D (elivaldogene autotemcel or eli-cel) could transform the prospects of people with CALD, the most severe form of the neurodegenerative disease ALD …

EMA starts rapid review of Bluebird’s gene therapy for rare disease CALD Read More »

Regeneron’s cholesterol drug evinacumab claims February FDA date

The FDA has started a speedy review of Regeneron’s ANGPTL3-targeting antibody evinacumab for a rare, inherited disorder that dramatically raises the risk of heart disease. The cholesterol-lowering drug has been classed as a breakthrough therapy for homozygous familial hypercholesterolaemia (HoFH) by the FDA, which is due to deliver a decision on the marketing application by …

Regeneron’s cholesterol drug evinacumab claims February FDA date Read More »

Chiesi’s flagship Fabry drug heads for FDA verdict in early 2021

The FDA has started its review of Israeli biotech Protalix BioTherapeutics and partner Chiesi’s Fabry disease therapy pegunigalsidase alfa, setting up a possible approval by 27 January. The enzyme replacement therapy (ERT) – also known as PRX-102 – has been granted a priority review by the US regulator, and is the top prospect in Chiesi’s …

Chiesi’s flagship Fabry drug heads for FDA verdict in early 2021 Read More »

Mallinckrodt’s liver disease drug terlipressin edges FDA advisory panel

An FDA advisory committee has narrowly voted in favour of approval of Mallinckrodt’s terlipressin for hepatorenal syndrome type 1 (HRS-1), after the agency questioned the findings of a phase 3 trial. The US regulator doesn’t have to approve on the strength of the 8 to 7 vote, so the slim margin means the fate of …

Mallinckrodt’s liver disease drug terlipressin edges FDA advisory panel Read More »