Rare diseases

Understanding Rare Diseases and Orphan Drug Marketing (White Paper)

While #Covid19 has impacted populations across the globe, it may have had an even greater effect on patients suffering from #rarediseases. The #pandemic has disrupted #orphandrugresearch, causing trial delays, site closures, and even program cancellations. On a positive note, by stimulating expanded acceptance and use of telehealth technologies, the Covid-19 pandemic may have rendered manufacturers’ …

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Vifor Pharma adds to chronic kidney disease lineup with pair of acquisitions

Nephrology products company Vifor Pharma is shelling out about $252 million combined up front to acquire Sanifit Therapeutics and Inositec, developers of drugs for a blood vessel complication affecting some chronic kidney disease patients. Both biotechs are in clinical trials with their respective lead drug candidates.

2nd Mitochondria-Targeted Drug Development Summit

Overcome the Challenge of Treating Unmet Medical Needs Caused by Mitochondrial Dysfunction The 2nd annual Mitochondria-Targeted Drug Development Summit returns as the only industry-led meeting focused on overcoming the challenge of treating unmet medical needs caused by mitochondrial dysfunction. This forum will specifically focus on targeting mitochondrial dysfunction to develop therapies for chronic diseases caused by mitochondrial DNA …

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Selecta Collaborates with Ginkgo to Develop Therapeutic Enzymes for the Treatment of Orphan and Rare Diseases

Shots: Ginkgo is eligible to receive up front, R& D fees including milestones in the form of Selecta common stock, clinical & commercial milestones of ~$85M in cash along with royalties on sales The collaboration will utilize Ginkgo’s cell programming platform & Selecta’s ImmTOR platform to develop transformative enzymatic therapies. The collaboration builds on preclinical/clinical …

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FDA refusal of Stealth Bio drug shows challenges of ultra-rare disease studies

The FDA refused to review Stealth BioTherapeutics’ Barth syndrome drug, telling the company results in a study of just eight patients are insufficient to support its submission. The impasse highlights the challenges of testing drugs for ultra-rare diseases. Barth is so rare that Stealth is unsure it can recruit patients to run a new study.

The power of R&D collaborations to improve outcomes in rare diseases

Far more common than initially thought, rare disease treatments remain far too scarce. The answer to the problem, of course, lays in making medical research more effective. A key step towards this is great collaborative working, and partnerships with the likes of the European reference networks and French healthcare network G2M are crucial to success. …

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Former Shire asset becomes Mirum’s first FDA-approved rare disease drug

Mirum Pharmaceuticals drug Livmarli is now approved to treat pruritus caused by Alagille syndrome, a rare liver disease that can worsen to the point of requiring a transplant. Mirum licensed the drug from Shire in 2018.

Amicus deal puts it on path to profitability, infuses its gene therapies with $400M

Amicus Therapeutics is spinning its gene therapy pipeline into a separate entity that will go public via a SPAC merger. Executives say the transaction puts Amicus on a path to profitability while simultaneously securing the cash needed to develop the gene therapy assets.

Capricor’s muscle drug data look good, but partner wanted and Phase 3 test needed

Capricor Therapeutics’ cell therapy for Duchenne muscular dystrophy posted encouraging results from a Phase 2 study enrolling 20 patients. But the FDA said a Phase 3 test is needed to support a regulatory submission, and the biotech is hunting for a pharmaceutical industry partner.

The benefits of being a family-run pharma company

The third generation of his family to hold a leadership role at Chiesi Group, Giacomo Chiesi reflects on the lessons he learned from his father and grandfather – and from his work as a former management consultant – about what it means to run a successful family business and its benefits. Family businesses across industries …

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It’s time to do better for patients with rare neurological disorders

Global Gene’s Craig Martin introduces a new patient identification initiative that strives to improve diagnosis and access to clinical trials for all patients with rare CNS conditions. Rare diseases impact more than 30 million Americans, and 400 million people around the globe. Less than 5% of the more than 7,000 rare diseases have approved treatments. …

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AI precision medicine accelerates the search for rare disease treatment

AI and precision medicine are both changing drug discovery and development as we know it. Precision medicine that is powered by AI stands to be transformative, especially for the treatment of rare diseases. Elsevier was recently part of a collaboration that sought to demonstrate how AI precision medicine could lead researchers to new treatments for …

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BioMarin stands tall with first approved drug for rare disease that causes dwarfism

The European Commission has approved a BioMarin Pharmaceutical drug that treats achondroplasia, a rare genetic disorder that slows bone growth and is the most common cause of dwarfism. The commission also granted conditional approval to a cancer drug from partners Incyte and MorphoSys.

FDA nod for Albireo drug makes it the first for children with rare liver disorder

The FDA has approved Bylvay, an Albireo Pharma drug that treats the severe itching experienced by patients with progressive familial intrahepatic cholestasis (PFIC). Prior to this approval, the only treatment options for the rare liver disorder were surgical.

EMA finds possible link between mRNA COVID jabs and myocarditis

The EU medicines regulator has said that there is some evidence to suggest a possible link between mRNA-based vaccines for COVID-19 and rare cases of heart inflammation.  According to the EMA’s pharmacovigilance risk assessment committee (PRAC), labelling for Pfizer/BioNTech’s Comirnaty and Moderna’s Spikevax should be updated to reflect “very rare cases” of myocarditis and pericarditis …

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Rare disease: industry, patients and tech join forces on diagnosis

Takeda’s Adam Zaeske discusses how cross-sector collaboration is shaping a brighter future for rare disease diagnosis. Diagnosis can sometimes be the most difficult part of a rare disease patient’s journey, and it’s with good reason that the process is often referred to as an ‘odyssey’ in these communities. “We’re dealing with very small populations of …

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FDA rejection of rare disease drug leads Orphazyme to cut two thirds of staff

Orphazyme’s corporate restructuring comes less than two weeks after the FDA rejected arimoclomal, a drug developed to treat the rare Niemann-Pick disease type C. The company said it is now focused on securing regulatory approval in Europe and finding a path forward for the small molecule with the FDA.

Intellia’s early CRISPR trial data validate a drug pipeline and the gene-editing field

Intellia Therapeutics has early clinical trial data showing that its CRISPR-based therapy for a rare disease can edit genes inside the body safely and effectively. The trial is ongoing, but the preliminary results suggest that Intellia’s approach could offer a cure.

Auris Medical pivots from hearing loss drugs, joins red hot RNA therapies field

Auris Medical has acquired Trasir Therapeutics, a startup developing technology that expands the delivery of RNA medicines to tissues beyond the liver. Going forward, Auris will sell or spin off its programs in hearing disorders and allergies and focus exclusively on RNA therapies.

FDA places clinical hold on Larimar’s rare disease drug after deaths in monkey study

The FDA placed a clinical hold on a Larimar Therapeutics program for Friedreich’s ataxia after monkeys died in tests of the fusion protein. In addition to halting further tests of the drug, the clinical hold also ends the biotech’s plan to raise $95 million that would have funded clinical research.

Why relationships are key in rare disease patient engagement

Real-world data is a vital part of rare disease drug development, but to get a true picture of patients’ unmet needs pharma should take a broader view of their lived experiences, says Xperiome’s Jeremy Edwards. It is difficult to get data on rare diseases and the people who live with them by their very nature. …

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Growing up different and not knowing why: My experience of rare vascular disorder KTS

Protracted diagnostic odysseys don’t only block access to rare disease treatments, they also leave people facing emotional turmoil all alone. Growing up in Glasgow, Linsey Brady “felt like a freak” and did everything she could to hide what she was told was a vascular deformation on her leg from the rest of the world. She …

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Alnylam FDA submission aims to expand biotech’s franchise of gene-silencing drugs

Alnylam Pharmaceuticals has filed for FDA approval of vutrisiran, which could become the biotech’s fourth drug that works by RNA interference. Meanwhile the company is responding to a federal subpoena seeking documents related to the company’s marketing and promotion of its first RNAi drug, Onpattro.

World Orphan Drug Congress USA Virtual 2021

On Wednesday, April 28th, the World Orphan Drug Congress USA is being held online for free! The conference brings together pharma, biotechs, government, payers, investors and patient/patient advocates in the rare disease space to discuss the latest developments that will lead to the future of orphan drug development. We are thrilled to announce some amazing speakers …

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Evrysdi has ‘real world impact’ on lives of babies with severe SMA, says Roche

Roche’s Genentech unit has released further data from a key trial of Evrysdi, its oral treatment for spinal muscular atrophy (SMA), the rare muscle wasting disease that is often fatal in babies that develop it. There are several treatment options now available for SMA, with Novartis’ ultra-pricey Zolgensma offering a one-off gene therapy, while Biogen’s …

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Alexion’s Camilla Harder Hartvig on making the impossible possible in rare disease

Alexion’s senior vice president of its international business talks to Paul Tunnah about the importance of “people-centred and vulnerable” leadership, the surprising impacts of COVID and the promising future for treating patients with rare diseases.  Alexion is a somewhat unique pharma company in that it focuses almost entirely on rare diseases – and although this …

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Technology assessment in rare diseases

What is a rare disease? The definition varies across countries, but according to the European Medicines Agency (EMA) rare diseases are those with a prevalence of <5 cases per 10,000 people; ultra-rare diseases are those with <1 case per 50,000 people. In most cases, rare disease must not only be rare but also severe, often …

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ProQR’s RNA therapy on track to pivotal tests in rare, inherited form of vision loss

ProQR Therapeutics has encouraging data from an early-stage study evaluating its treatment for vision loss in the rare, inherited disorder Usher syndrome. The biotech now plans to advance its RNA therapy to two pivotal studies later this year.

Making a big impact in small patient populations

Approximately 85% of rare diseases are genetic, offering significant opportunities to develop better treatments as our understanding of the human genome improves1. Advances in next-generation sequencing have shown that sequencing the whole genomes of large numbers of individuals in a standardized way can improve the diagnosis and treatment of patients with rare diseases. Scientists have …

Making a big impact in small patient populations Read More »

Making a big impact in small patient populations

Approximately 85% of rare diseases are genetic, offering significant opportunities to develop better treatments as our understanding of the human genome improves1. Advances in next-generation sequencing have shown that sequencing the whole genomes of large numbers of individuals in a standardized way can improve the diagnosis and treatment of patients with rare diseases. Scientists have …

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Bluebird analysis finds gene therapy ‘very unlikely’ to be cause of patient’s cancer

Bluebird bio said independent analyses found that the gene therapy inserted its payload at a site not known to cause cancer. Based on the results, the company has asked the FDA for permission to resume all of the clinical trials that were placed on hold in February during the inquiry.

How accidental advocacy is amplifying the GM1 voice

Rare disease families need to stand up and be counted if they want things to change said mum and advocate Christine Waggoner. She spoke to pharmaphorum as part of our Patients Insights series. Like many “rare disease mums”, Christine is an accidental advocate. After her daughter, Iris, was diagnosed with a rare disease at five, …

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Why we need research into the mental health impact of a rare disease diagnosis

Rare diseases impact between 3.5%-5.9% of the world’s population. This Rare Disease Day, RBW Consulting’s Emma Thorp discusses why the consultancy is taking revenue earned from its rare disease clients and using it to fund research into the mental health impact of a rare disease diagnosis. Rare diseases are often chronic and life-threatening, and with a …

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Building a better future for people with rare diseases in all four UK nations

How has rare disease care changed over the last few years? And what might we expect from the next five? We attended the Rare Disease Day Virtual Parliamentary Event to find out. The rare disease community has a golden opportunity to transform the way care is delivered across all four UK nations – that’s according …

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Rare disease insights from the patient community

To help pharma companies understand what life is really like for patients with a rare disease, a new resource has been released to coincide with Rare Disease Day 2021. A series of stakeholder interviews have been collected in a new video from Bedrock Healthcare Communications and Origins Insights that explores the underappreciated challenges of living …

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Building early relationships: a gamechanger for pioneering rare disease treatment

Advocacy groups play a crucial role in both driving access to innovative treatment and services and educating patients and caregivers on novel breakthroughs. On average, it takes more than four years to receive an accurate diagnosis of a rare disease.1 This diagnostic odyssey has pushed patients and caregivers online to self-diagnose and learn more about …

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Pulse Infoframe Releases Registry for Patient Advocacy Groups

Launching a rare disease patient registry often requires patient advocacy groups to design a registry themselves or pay for an expensive customized solution. With the launch of Rare Central, Pulse Infoframe offers patient advocacy groups an on-ramp to collecting real-world data, including natural history data, disease-specific data, and patient-reported outcomes. As a patient group’s needs …

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Unpacking rare diseases in the first edition of Delta magazine

Welcome to Delta – the new Fishawack Health magazine. We’ve chosen to focus our first edition of the magazine on a topic close to our hearts, rare diseases. Rare diseases represent an incredibly high unmet need, not only due to the lack of therapies and the practical difficulties in diagnosis, but also in patients’ desire …

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Real-world evidence: breaking boundaries in rare disease

The COVID-19 pandemic has added a new layer of complexity to the drug development process. Launch timelines have been delayed and clinical trials have been postponed or suspended. As a result, life sciences companies are turning to novel methods of collecting clinical data and innovative trial design. The generation of data to show the significant …

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Research shows gene therapies can offer cost savings potential of up to $1.8M over five years for patients with certain blood diseases

A recent analysis by Health Advances looks at two particularly burdensome hematological (or blood) diseases — beta thalassemia and hemophilia A — and finds that potential gene therapies in the pipeline could reduce per patient costs by as much as 41% and 90%, respectively, over five years. Research-based knowledge gained in recent years about the genetic …

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bluebird bio to split into oncology and gene therapy specialists

US biotech bluebird bio has announced plans to split into two this year, with a separate oncology business spinning off as the company prepares to bring its products to market. Under the plans the company’s rare disease drugs will remain under the aegis of bluebird with current genetic disease president Andrew Obenshain taking the reins …

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Tay-Sachs and rare disease registries – the Health Heroes podcast

Episode four of Kantar Health’s Health Heroes podcast tackles pharma’s rare disease challenges, the role of patient registries and hears a moving story about the rare genetic disorder Tay-Sachs disease. Joining me for this instalment of Health Heroes are Geneviève Bonnélye-Fesnien, global head of real-world evidence, research and consulting at Kantar Health, and Dan Lewi, …

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Operationalize: Expanded Access Programs Summit

Say Goodbye to the Worry & Uncertainty of Setting Up & Managing an Expanded Access Program This inaugural Operationalize: Expanded Access Programs digital event is here to bring you solutions. Dealing with a diverse and confusing global regulatory landscape, on top of an increasing number of access requests from patients, is no easy feat for people working in …

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Rocket Pharmaceuticals in orbit after gene therapy read-out

Shares in Rocket Pharmaceuticals have been living up to their name, shooting up following encouraging early-stage clinical trial results from a gene therapy for a serious inherited rare heart disease. Results came from a phase 1 trial of RP-A501 for treatment of Danon Disease and sent shares up 75% on the Nasdaq to more than …

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The urgent need for education and awareness about mitochondrial disease

Delayed diagnosis, misdiagnosis, and no cure or disease modifying treatments – children living with mitochondrial disease face all the issues often associated with rare diseases. It’s a problem that Michelle Bamber, whose two little girls both have the life-limiting condition, knows only too well. Lily was a happy, contented baby, and her parents had no …

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‘Knowledge is power’ for rare diseases and NAbs

Cure Rare Disease’s Rich Horgan discusses the importance of preclinical NAbs screening and helping rare disease patients better understand their eligibility for gene therapies. Neutralising antibodies (NAbs) present a unique challenge to researchers looking to treat patients with AAV treatment. As AAV is a virus derived from the common cold, the immune system can easily …

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How the rare disease community has developed fertile ground for progress

Amanda Barrell explores how a perfect storm of changing economics, advances in technology, and the increasing volume of the patient voice is stoking change in the rare disease space. New models of drug development are fuelling life-changing advantages in the rare disease space, previously an economic no-go area for pharma and biotech companies. That was …

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FDA approves Alnylam’s ultra-rare disease drug Oxlumo

The FDA has approved Alnylam’s gene silencing drug Oxlumo, the first treatment for primary hyperoxaluria type 1 (PH1), an ultra-rare and life-threatening genetic disorder. Oxlumo (lumasiran) was also approved in the European Union last week, making it the third from Alnylam’s pipeline of RNA interference therapeutics to make it to market. The approval will mean …

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FDA to expedite development of two Sanofi rare disease drugs

The FDA has agreed to expedite development of two rare disease drugs from Sanofi. The most significant of the two announcements is the Priority Review for avalglucosidase alfa, a potential new therapy for Pompe disease. The review period will be shortened from the standard ten months to six months or less, and the French pharma …

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Sanofi/Alnylan’s haemophilia drug hits another safety speed-bump

Sanofi’s attempt to take on Roche with a ground-breaking approach to treating haemophilia has hit a setback after the company voluntarily placed its late-stage trials of fitusiran on hold because of safety issues. The news that phase 3 development has been put on hold was not announced by the French pharma, but in a joint …

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Calliditas plans to file rare kidney disease drug Nefecon after phase 3 success

Swedish biotech Calliditas has announced plans to file its rare disease drug Nefecon with the FDA early next year following positive results from a phase 3 clinical trial. The company has been developing Nefecon to treat the primary IgA nephropathy, a rare disease that affects the kidney but is caused by overproduction of antibodies produced …

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After two decades, NICE begins consultation on drug assessment methods

The UK’s drug cost-effectiveness body NICE has launched a public consultation, presenting the case for change about how it assesses medicines, medical devices and diagnostics. NICE has been assessing medicines for 21 years using the Quality Adjusted Life Year (QALY) – the cost to ‘buy’ a patient a year of quality life – as its …

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Ring 20: Could the rare disease get left behind by next-generation gene sequencing?

Ring Chromosome 20 Syndrome, or (R)20, is an ultra-rare form of epilepsy with a devastating impact – yet despite huge leaps forward in gene sequencing in recent years, diagnoses are going down instead of up. We spoke to Allison Watson, co-founder of Ring 20 Research and Support, about raising awareness, building the evidence base, and …

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Rare diseases, repurposing and the role of AI

In the age of artificial intelligence, no trial data should be going to waste. Findacure’s Rick Thompson looks at how these technologies could bring us closer to treatments for underserved rare diseases. The repurposing of drugs is becoming more common, especially in the field of rare diseases.  In the past, repurposing has mostly been driven …

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Flying the flag for research in Aarskog syndrome

Delayed diagnosis, lack of awareness, and a limited evidence base – Aarskog syndrome faces all the challenges of rare diseases everywhere. But a new study hopes to kick start a revolution in understanding. For five years, Michelle Erskine faced a succession of closed doors and disbelief as she struggled to convince someone that all was …

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BioMarin files achondroplasia drug after rejection for haemophilia therapy

US biotech BioMarin has hit back with a filing for a rare disease drug, after suffering what was described by analysts as a “major setback” when the FDA rejected its gene therapy for haemophilia A. California-based BioMarin said the US filing for vosoritide in achondroplasia could lead to the first treatment for children with achondroplasia, …

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Healx uses AI to find drugs for Angelman Syndrome

The UK-based AI technology company Healx has begun a partnership with the Foundation for Angelman Syndrome Therapeutics (FAST), focusing on developing new therapies for the rare neurogenetic disorder. The latest project will focus on quickly identifying and progressing novel treatments for Angelman syndrome, which is caused by several genetic mutations. But the most significant is …

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NS Pharma takes on Sarepta as FDA approves DMD drug

The FDA has approved a new therapy for the rare muscle wasting disease Duchenne muscular dystrophy (DMD) as Japan’s NS Pharma takes on Sarepta and its controversially approved rival. NS Pharma’s Viltepso (viltolarsen) has been approved in patients who have confirmed mutation of the DMD gene that is amenable to exon 53 skipping. The DMD …

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How does HTA for orphan drugs differ across europe?

New research looks at the factors that speed up and slow down HTA appraisals for rare disease medicines across Europe. Rare diseases drugs have always faced challenges when it comes to HTA approvals, even as governments bring in more regulatory policies that make their path through assessment easier. Several factors make it difficult for HTA …

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Biogen plans trial of Spinraza in patients not responding to SMA gene therapy

Biogen is planning to trial its Spinraza spinal muscular atrophy (SMA) drug in patients who have not responded properly to Novartis’ gene therapy Zolgensma, combining the two ultra-expensive therapies to treat the rare muscle-wasting disease. In the US, a single shot of Zolgensma (onasemnogene abeparvovec) costs $2.1 million, while Spinraza (nusinersen) costs $750,000 in its …

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Pandemic hits sales at Novartis after strong launch for SMA gene therapy

The COVID-19 pandemic has bit into sales at Novartis, the big Swiss pharma said in second quarter results, after orders fell back following a period of stockpiling earlier in the year. Figures for the quarter showed reported sales fell by 4% to $11.3 billion compared with the corresponding period last year, although favourable currency fluctuations …

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Inozyme plans $75m IPO as it heads for clinic with rare bone diseases drug

US biotech Inozyme Pharma is the latest to jump on to the IPO bandwagon, setting terms for a $75 million stock market launch, as the firm gears up for clinical trials of its lead drug for rare bone diseases. Based in Boston, Massachusetts, the company plans to raise $75 million by offering 5 million shares …

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Novel Platforms in Ocular Drug Delivery workshop discussed at Ophthalmic Drugs

SMi reports: Dr. Thakur Raghu Raj Singh from Queen’s University Belfast will lead the post conference workshop on Wednesday 25th November 2020. SMi presents the 4th Annual Ophthalmic Drugs Conference taking place on the 23rd -24th November 2020, in London. SMi are also pleased to announce that they will be hosting a half-day post-conference workshop, …

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