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Orphan Drug Start-Up: Discussion With The Founder Of Perlstein Lab

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Perlstein Lab PBC is a San Francisco-based biotech startup and public benefit corporation focused on precision orphan drug discovery. The company is building a scalable and personalized orphan drug screening platform that efficiently identifies patient-mutation-matched small-molecule drug candidates. Perlstein Lab is initially focusing on 47 related Lysosomal Storage Diseases (LSDs). Dr. Ethan O. Perlstein is the Founder and CEO of Perlstein Lab.

The Orphan Druganaut Blog had the opportunity to interview Dr. Ethan O. Perlstein about the Perlstein Lab, the startup’s mission and goals for the future, why the choice of LSDs, and the state of the orphan drug regulatory landscape.

(1)  Can you please tell us a little about the Perlstein Lab and what the mission and goals are for the future for developing orphan drugs ?

First off, thank you inviting me onto the blog! It’s auspicious timing. This week we closed a $2M seed round.

Perlstein Lab is a mission-driven biotech startup. What do I mean by mission-driven? First, we have a social mission: address the unmet needs of orphan disease patients using a drug screening approach that leaves no mutation behind. Second, we have an environmental mission: develop a sustainable R&D pipeline that minimizes carbon footprint and the destruction of higher animal models, e.g., laboratory mice. Third, we have a business mission: balance proprietary claims with openness and public engagement. We enshrined those principles in our founding corporate documents, and to our knowledge we are the first biotech benefit corporation, or B-corp.

Through our efforts to discover orphan drug candidates using primordial animal models, we hope to kickstart an orphan disease moonshot. Since 1983 and the passage of the Orphan Drug Act, the rate of orphan drug approvals has averaged 10-20 per year. At this pace, it will take another 400+ years before we have an approved drug for every orphan disease. This is unacceptable. We aim to accelerate the pace of discovery by a factor of 10X.

(2)  Why has the Perlstein Lab chosen to initially focus on 47 related LSDs ?

There is a scientific rationale and a regulatory rationale.

The scientific rationale is two-fold. First, we know the genetic basis of LSDs. Some LSDs were first described in the medical literature in the 1920s and 1930s. So compared to many orphan diseases, a fair amount is known about the underlying pathophysiology. Second, when I was an independent postdoc from 2007-2012 at Princeton, my lab studied lysosomal processes from a basic cell biology perspective. Choosing LSDs as Perlstein Lab’s initial focus meant leveraging a foundation of expertise.

The regulatory rationale is as follows. Patient advocacy groups (PAGs) are well-organized in the LSD space. In fact, some organizations go back to the Orphan Drug Act era and have built incredible resources and knowhow in the intervening decades. At Perlstein Lab, we want to engage with patients and advocates on the science of personalized drug discovery from the outset. When it comes time to interact with FDA, I believe that scientifically empowered PAGs will be more effective allies and participants in clinical trials.

(3)  Perlstein Lab is building a personalized drug screening platform ? Can you please share with us what this is, and what types of data and databases are being used to develop your drug screening platform ?

Perlstein Lab is guided by an approach called evolutionary pharmacology. What this means is we use simple model organisms (yeast, worms, flies and fish), as opposed to higher animal models (mice and rats), to do drug discovery. The study of simple model organisms over the last century has illuminated the inner workings of cells down to the level of genes. Most human genes have ancestral versions, or homologs, in simple model organisms. When the homologs of human disease genes in simple model organisms are mutated, these organisms get sick in ways that resemble patients with disease. We can then process these sick model organisms in drug screens to identify small-molecule drug candidates that reverse or correct the effects of mutation.

The personalization part comes in thanks to recent advances in genome editing, eg, CRISPR. Using genetic data available in public databases, Perlstein Lab can recreate specific patient mutations in the homologs of human disease genes. For example, the LSD Niemann-Pick C is caused by mutations in the gene NPC1. There are at least 200 NPC1 mutations known (and certainly more to be discovered). Using genome-editing, we can personalize drug discovery for every single one of those mutations. Why? There is strong evidence showing that different mutations require tailor-made drugs, e.g., the cystic fibrosis drug Kalydeco.

(4)  Are you working with any patient advocacy groups or organizations ?

Not directly at the moment, but as I said above Perlstein Lab is very interested in engaging PAGs on our science and on our mission. We try to take every opportunity to meet with PAGs at meetings. For example, I attended the annual Ara Parseghian Foundation’s Niemann-Pick C meeting last month, and I will be attending my second Global Genes Patient Advocacy Summit in September.

(5)  What do you see for the future for the orphan drug regulatory landscape ?

Great question. I think the policy inducements in place that encourage orphan drug development will remain and will likely be expanded, especially as more PAG-financed efforts advance drug candidates toward the clinic. The regulatory landscape will have to adapt to increasingly sophisticated PAGs and allied companies.

I look to the HIV/AIDS activists and their heroic efforts to accelerate antiviral drug research and approval in the late 80s and early 90s as a template for orphan disease PAGs in the 21st century. The pressure they exerted not only on regulatory agencies but also on Congress saved lives.

(6)  What would you like for the readers to know about Perlstein Lab and yourself ?

Perlstein Lab isn’t your typical biotech startup. 4/5 of our scientists are refugees from the postdocalypse. In other words, this is our first biotech startup experience. We also have deep, complementary expertise in the model organisms we’re working with. I don’t know of many biotech companies today that are hiring fruit fly geneticists (though back in day genetically-informed companies like Exelixis did just that).

We’re also different from your typical biotech startup in our online persona. Most biotech startups operate in “stealth mode,” meaning one can glean very little of substance from their company websites or blogs – if they even have a blog. I personally think that’s a huge lost opportunity. Patients and the public will make for much better partners when they’re scientifically empowered.

Thank you for your time.

For further information on Perlstein Lab please contact: Also Perlstein Lab can be followed on Twitter at @PerlsteinLab or on Facebook at @PerlsteinLabPBC.

 Logo courtesy of Perlstein Lab.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

Rare Diseases And Orphan Drug Startups: The Latin Behind The Company Names


Two recent pharmaceutical start-up companies in the rare disease and orphan drug space, have names based on Latin words :

1)  Abeona Therapeutics

2)  Atterocor.

I – Abeona Therapeutics

Abeona Therapeutics is created in March 2013 with the goal of developing therapies for patients with Lysosomal Storage Diseases (LSDs). Abeona Therapeutics, who in partnership with scientists at Nationwide Children’s Hospital, and with financial support from multiple patient advocacy groups, are collaborating to develop gene therapies for children with the rare LSD, Sanfilippo (SF) Syndrome or Mucopolysaccharidosis III (MPS III). Abeona in Roman Mythology is the Goddess of Departures. She protects children as they step away from home for the first time, keeping them safe as they venture into the world. Her name comes from the Latin verb abeo, “to depart, go away, or go forth”.

In April 2014, Abeona Therapeutics receives FDA Orphan Drug Designation for their investigational gene therapies for both Sanfilippo Syndrome Types A and B:

 # Generic Name/ODD Date Sponsor Company Indication
1 Recombinant AAV9 expressing human sulfoglucosamine sulfohydrolase/ 04.29.14 Abeona Therapeutics MucopolysaccharidosisType III-A(Sanfilippo SyndromeType A)
2 Recombinant AAV9 expressing human alpha-N-acetylglucosaminidase/ 04.30.14 Abeona Therapeutics MucopolysaccharidosisIII-B(Sanfilippo SyndromeType B)


** “Generic Name/ODD Date” Column Link = Is the FDA Orphan Drug Product Designation Database Record.

Collaborating scientists in Abeona Therapeutics’ Sanfilippo Consortium, recently receive the Champion of Hope Award for Collaboration in Advocacy, from the Global Genes | RARE Project.

II – Atterocor

Atterocor, created in 2012 as a University of Michigan spinoff, is a drug development company focusing on the accelerated development of a novel treatment for Adrenocortical Carcinoma (ACC). The company receives $16 million in venture capital funding to begin Phase I human trials for ATR-101 for ACC. In March 2012, Atterocor receives FDA Orphan Drug Designation (ODD) for ACC :

Generic   Name: (N-[2,6-bis(1-methylethyl)-pheyl-N'-[[1-4-dimethyl-amino)phenyl]cyclopentyl]methyl]urea,   hydrochloride salt
Trade   Name: n/a
Date   Designated: 03-09-2012
Orphan   Designation: Treatment of adrenocortical carcinoma
Orphan   Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor:   Atterocor, Inc.
820 Heatherway
Ann Arbor, MI 48104The sponsor address listed is the   last reported by the sponsor to OOPD.

ATR-101 also receives ODD from the European Medicines Agency (EMA). Atterocor in October 2013 announces the start of a Phase I clinical trial of ATR-101 in ACC.

In June 2014, Atterocor announces that the company’s chief scientific officer, Stephen W. Hunt III, Ph.D., presents preclinical data on ATR-101 in an oral session at the joint meeting of the International Society of Endocrinology and the Endocrine Society (ICE/ENDO 2014), in Chicago.

ACC is a rare aggressive cancer, that is often fatal because it is usually diagnosed in the later stages of the disease. ACC affects about 1,000 patients in the United States. It is a cancer of the adrenal cortex that occurs when cancer cells form in the outer layer (cortex) of the adrenal gland. ACC frequently impacts the body’s secretion of adrenal hormones and patients are often diagnosed when they seek medical attention due to symptoms associated with excess hormone production. Surgery is not a viable treatment option for the majority of ACC patients. Other current treatment options are extremely limited and can be toxic, poorly tolerated and often ineffective.

According to a recent online article :

“Atterocor — “attero” is Latin for weaken or destroy, and “cor” is short for cortex ….”.

Thus, Atterocor, the name of the new company that is to destroy, to weaken, or to ruin the cortex – the cancer of the adrenal cortex.

Please Note: “Jigsaw” by User: Amada44 (Own work) [Public domain] | Wikimedia Commons.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

FDA Breakthrough Therapy Designation: 5th Approval Is For Gilead Sciences


The FDA announces on July 23rd, that Gilead Sciences’ drug, Zydelig (Idelalisib), receives 3 approvals for blood cancers.

The 1st FDA approval is the “traditional approval” of Gilead Sciences’ FDA Breakthrough Therapy (BTD) Designated product, Zydelig, for relapsed Chronic Lymphocytic Leukemia (CLL). Used in combination with Rituxan (Rituximab), Zydelig is to be used for patients for whom Rituxan alone would be considered appropriate therapy due to other existing medical conditions.

Zydelig is the 5th new drug with BTD approved by the FDA and the 3rd drug with BTD to be approved for the treatment of CLL. 80% of FDA BTD approvals are for a cancer indication. Zydelig also receives FDA Orphan Drug Designation (ODD).

FDA BTDs Receiving Approal

Official FDA Approval #s Drug Name FDA Approval Date Sponsor Company Indication
1 Gazyva   (Obinutuzumab) 11.01.13 Genentech Chronic Lymphocytic Leukemia (CLL)
2 Imbruvica   (Ibrutinib) 11.13.13 Pharmacyclics Mantle Cell Lymphoma (MCL)
3 Sovaldi   (Sofosbuvir) 12.06.13 Gilead   Sciences Hepatitis C
Imbruvica   (Ibrutinib)* 02.12.14 Pharmacyclics Chronic Lymphocytic Leukemia (CLL)
Kalydeco (Ivacaftor)** 02.21.14 Vertex Pharmaceuticals 8 additional mutations in CFTR gene for Cystic Fibrosis (CF)
Ofatumumab (Arzerra)*** 04.17.14 GlaxoSmithKline In combination with Chlorambucil for previously untreated Patients with CLL for whom fludarabine-based therapy is considered inappropriate
4 Zykadia (Ceritinib) 04.29.14 Novartis Metastatic ALK+ NSCLC
5 Zydelig (Idelalisib) 07.23.14 Gilead Sciences Chronic Lymphocytic Leukemia (CLL)


* Expanded the approved use of Imbruvica (Ibrutinib) for CLL

**   Approval for a Supplemental New Drug Application (sNDA)

*** Approval for a Supplemental Biologic License Application (sBLA).

The 2nd and 3rd FDA approvals for Zydelig, is the FDA accelerated approval (for patients who have received at least 2 prior systemic therapies) for monotherapy for the treatment of patients with :

•   Relapsed Follicular B-Cell Non-Hodgkin Lymphoma (FL)

•   Relapsed Small Lymphocytic Lymphoma (SLL).

Zydelig carries a Boxed Warning for fatal and serious toxicities including liver toxicity, colon and lung inflammation, and intestinal perforation. Zydelig is approved with a Risk Evaluation and Mitigation Strategy (REMS), with a communication plan to ensure that healthcare providers who are most likely to prescribe Zydelig are informed about the risks.



FDA BTD Approval Chart

FDA BTD Statistics Chart.

Please Note: “Icon Announcer” by Orion 8 [Public domain] | Wikimedia Commons.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

Orphan Drugs: A Discussion With Dr. Timothy R. Coté


Coté Orphan Consulting, LLC (COC), a regulatory affairs advisory firm in Silver Spring, Maryland, provides consulting services to companies that are developing or looking to develop orphan drugs. The company is founded in 2012 and led by Dr. Timothy R. Coté, former FDA Director of the Office of Orphan Products Development (OOPD). The COC team has provided regulatory consulting services including FDA orphan designation applications, breakthrough therapy designations, pediatric priority review vouchers, and regulatory strategic planning to over 150 major biotech and pharmaceutical companies. COC recently signed a $7 million contract resulting in the establishment of Coté Orphan Clinical Trials, a full-service clinical research organization.

The Orphan Druganaut Blog has the opportunity to interview Dr. Timothy R. Coté from COC about the services they provide and the state of the global orphan drug regulatory landscape.

1)   Can you please tell us a little about the Coté Orphan Consulting firm and what services you provide for companies interested in developing or are currently developing orphan drugs? Do you offer services globally or for specific geographic areas (EU, US, etc.)?

Coté Orphan Consulting provides valuable regulatory strategic planning to biotech and pharmaceutical companies seeking orphan status designation and marketing authorization for their orphan products. Services provided by the COC team include FDA orphan designation applications, regulatory strategic planning, breakthrough therapy designations, pediatric priority review vouchers, and clinical trials design and execution. COC caters to all major established regulatory markets.

2)   What role and impact do you see advocacy organizations and patients having on global regulatory agencies for orphan drugs ?

Patients are what this is all about. Previously, as chief medical officer for NORD I saw first-hand the critical role that patients play in orphan drug clinical trials, regulatory approvals, and eventually, marketing efforts. This is as it should be. Patients are the reason this endeavor exists.

3)   What changes would you like to see with global regulatory agencies to improve the speed of bringing orphan drugs to market and for providing faster access to patients ?

I was honored to serve as the director of FDA’s Office of Orphan Products Development and can state from first-hand knowledge that the OOPD as well as the many review divisions are committed to expedient review and licensing of orphan drugs. Sadly, the lapse is not theirs; they are a beleaguered, underfunded, bureaucratically constrained organization of dedicated public servants who, were it within their power, would indeed accelerate the licensure of therapies we all desire. To make this happen, Congress must appropriate the funds requisite to intelligent regulation of 25% of the US Economy. And the American people need to support the strivings of these selfless servants.

4)   Do you advise companies on the pricing of orphan drugs ? What do you see as the challenges for how insurance/government agencies will handle the high prices of orphan drugs ?

We do not advise on price points, but we recognize that orphan drugs merit higher price points for the 7 or 10 years of market exclusivity to which they are entitled. While some of the numbers may be eye-popping (e.g., $700,000 per patient per year) the knowledge is eternal and the exclusivity time-limited. For 32 years, the Orphan Drug Act has remarkably advanced capacity of the entire biotechnology industry. Therefore, it was no surprise when the Affordable Care Act (ACA)-the most radical revision of healthcare financing since 1776-left our system for incentivizing orphan drugs completely untouched. This was rational, given that orphan drugs represent less than 1% of the total healthcare budget. It is rare to see such rationality expressed by Congress, but this time we were lucky.

5)   Do you think collaborations/partnerships between different international regulatory agencies for orphan drugs will be the direction for the future ?

No, but I think they should be. For example, while I instituted regular monthly meetings between FDA and EMA offices responsible for orphan designation, and lobbied hard for a mutual recognition of such designation, I doubt it will occur in my lifetime. Drug regulation is the extension of the formal authority of States, and States are loathe to share authority.

6)   What do you see for the future of orphan drugs globally ?

Orphans are hot. They represent the great frontier in healthcare. We have 7,000 rare diseases but only about 400 licensed orphan products which together treat about only 200 rare diseases. That leaves 6,800 rare diseases without any form of treatment. We have work to do.

7)   Does COC have any upcoming meetings or special announcements to share ?

COC and the ERA Consulting Group (ERA) are pleased to announce the establishment of a strategic transatlantic alliance to provide comprehensive services to clients developing products for orphan indications.

The ERA Consulting Group, with offices in the UK, Germany, Washington, DC, and Brisbane, Australia, is a consulting organization in Europe and Australasia for biologics, including gene and cell therapy products, which are often developed for orphan indications. With more than 27 years of experience, the ERA team has successfully achieved orphan medicinal product status in the EU for many clients. Also, ERA has full electronic publishing capabilities to process electronic submissions both to FDA and EU authorities.

Together, COC and ERA can provide advice and practical assistance at all stages of development of orphan drugs, including concept, orphan designation, clinical trial applications, and BLAs/MAAs.

Thank you for your time.

COC Logo courtesy of COC.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

Europe’s July 2014 Products Recommended For Orphan Drug Designation


The European Medicines Agency’s (EMA) Committee for Orphan Medicinal Products (COMP) held a meeting July 8 – 10, 2014. The EMA COMP July 2014 Meeting Report on the review of applications for orphan designation is published July 22nd.

At this meeting, there are 27 positive opinions recommending the following medicines for designation as orphan medicinal products. COMP’s opinions are forwarded to the European Commission (EC). The EC will then decide whether to grant an orphan designation for the medicines in question. Public summaries of the opinions will be available on the EMA website following adoption of the respective decisions on orphan designation by the EC.


•   27 ODDs are recommended

•   Vertex Pharmaceuticals’ Lumacaftor and Kalydeco (Ivacaftor) combination for Cystic Fibrosis

•   Genzyme Europe for Lysosomal Storage Disorder (LSD), Fabry Disease

•   Duchenne Muscular Dystrophy indication

•   3 Bleeding Disorder indications:

1.   Hemophilia A

2.   Hemophilia B

3.   Congenital Factor VII Deficiency.

EMA COMP July 2014 ODDs Recommended

Product Name Sponsor Company Indication
(3S)-1-azabicyclo[2.2.2]oct-3-yl{2-[2-(4-fluorophenyl)-1,3-thiazol-4-yl]propan-2-yl}carbamate Genzyme Europe BV Fabry Disease
17α,21-dihydroxy-16α-methyl-pregna-1,4,9(11)-triene-3,20-dione NDA Group AB Duchenne Muscular Dystrophy
Gevokizumab Les Laboratoires Schnitzler Syndrome
Lumacaftor and ivacaftor fixed-dose combination Vertex Pharmaceuticals (UK) Cystic Fibrosis
Recombinant factor VIIa modified with three terminal repeats derived from the β chain of human chorionic gonadotropin Richardson Associates Regulatory Affairs Ltd Congenital Factor VII Deficiency
Recombinant factor VIIa modified with three terminal repeats derived from the β chain of human chorionic gonadotropin Richardson Associates Regulatory Affairs Ltd Hemophilia A
Recombinant factor VIIa modified with three terminal repeats derived from the β chain of human chorionic gonadotropin Richardson Associates Regulatory Affairs Ltd Hemophilia B
Recombinant fusion protein consisting of a modified form of the extracellular domain of human activin receptor IIB linked to the human IgG1 Fc domain IDEA Innovative Drug European Associates Limited Myelodysplastic Syndromes
Recombinant human apolipoprotein A-I in a complex with phospholipids Cerenis Therapeutics Holding SA apolipoprotein A-I deficiency
Recombinant human apolipoprotein A-I in a complex with phospholipids Cerenis Therapeutics Holding SA ATP-binding cassette transporter A1 deficiency
Retinol Dr. Philipp Heinrich Novak bronchopulmonary dysplasia
Sodium ascorbate and menadione sodium bisulfite JJG Consultancy Ltd autosomal dominant polycystic liver disease
Ulinastatin BSV BioScience GmbH acute pancreatitis
2-(2-methyl-5-nitro-1H-imidazol-1-yl)ethylsulfamide DualT pharma B.V. Small cell lung cancer
4-{[(2R,3S,4R,5S)-4-(4-chloro-2-fluoro-phenyl)-3-(3-chloro-2-fluoro-phenyl)-4-cyano-5-(2,2-dimethyl-propyl)-pyrrolidine-2-carbonyl]-amino}-3-methoxy-benzoic acid Roche Registration Limited Acute Myeloid Leukemia
Adeno-associated viral vector serotype 8 containing the human UGT1A1 gene Fondazione Telethon Crigler-Najjar syndrome
Humanised IgG1 monoclonal antibody against human KIR3DL2 Innate Pharma S.A. cutaneous T-cell lymphoma
Lentiviral vector containing the human liver and erythroid pyruvate kinase (PKLR) gene Centro de Investigación Biomédica en Red (CIBER) pyruvate kinase deficiency
Macromolecular conjugate of heparin sodium on a polymer backbone Corline Systems AB prevention of ischaemia reperfusion injury associated with solid organ transplantation
Obinutuzumab Roche Registration Limited diffuse large B-cell lymphoma
Recombinant human diamine oxidase Medical University of Vienna Mastocytosis
S3,S13-cyclo(D-tyrolsyl-L-isoleucyl-L-cysteinyl-L-valyl-1-methyl-L-tryptophyl-L-glutaminyl-L-aspartyl-L-tryptophyl-N-methyl-L-glycyl-L-alanyl-L-histidyl-L-arginyl-L-cysteinyl-N-methyl-L-isoleucinamide) Amyndas Pharmaceuticals paroxysmal nocturnal haemoglobinuria
Variant of recombinant human fibroblast growth factor 19 Diamond BioPharm Limited Primary biliary cirrhosis
Vector based on an adeno-associated virus serotype 2 backbone, pseudo-serotyped with a type 8 capsid, which carries the coding sequence of the human TYMP gene under the control of the humanthyroxine binding globulin promoter Vall d’Hebron Institute of Research mitochondrial neurogastrointestinal encephalomyopathy
(Z)-3-(3-(3,5-bis(trifluoromethyl)phenyl)-1H-1,2,4-triazol-1-yl)-N’-(pyrazin-2-yl)acrylohydrazide Clinipace GmbH diffuse large B-cell lymphoma
(Z)-3-(3-(3,5-bis(trifluoromethyl)phenyl)-1H-1,2,4-triazol-1-yl)-N’-(pyrazin-2-yl)acrylohydrazide Clinipace GmbH acute myeloid leukemia
[5-amino-1-(4-fluoro-phenyl)-1H-pyrazol-4-yl]-[3-(2,3-dihydroxy-propoxy)-phenyl]-methanone Synovo GmbH Pancreatic Cancer


Please Note: “Erlenmeyer Flasks” From Argonne US National Lab  [Public domain in the US] | Wikimedia Commons.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

FDA Breakthrough Therapy Designation: #49 For Pancreatic Cancer

FDA logo

Aduro BioTech, a California-based clinical-stage biotechnology company, announces July 21st that the company receives a FDA Breakthrough Therapy Designation (BTD). The BTD is for the company’s pancreatic cancer combination treatment that consists of CRS-207 and GVAX Pancreas immunotherapies. GVAX Pancreas is a “ … CRS-207 is one of a family of candidates based on Aduro Biotech’s live-attenuated, double-deleted (LADD) Listeria monocytogenes immunotherapy platform that induce a potent innate and T cell-mediated immune response …… GVAX vaccine derived from human cancer cell lines that are genetically modified to secrete granulocyte-macrophage colony-stimulating factor (GM-CSF), an immune-stimulatory cytokine.”

The BTD is based on results of a Phase II trial in metastatic pancreatic cancer patients which are presented at the beginning of 2014, at the ASCO Gastrointestinal Cancers Symposium conference. The clinical trial shows that the median overall survival of patients receiving the combination treatment is 6.1 months compared to 3.9 months for those patients receiving GVAX monotherapy. Aduro BioTech is planning on completing enrollment in a 240 patient Phase IIb clinical trial (ECLIPSE) by the end of 2015.

Please Note: FDA Official Logo from FDA website.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.

FDA Breakthrough Therapy Designation: InterMune Joins The Idiopathic Pulmonary Fibrosis Race


InterMune, a global biotechnology company focusing on the development and commercialization of therapies in pulmonology and orphan fibrotic diseases, announces on July 17th that the company receives the coveted FDA Breakthrough Therapy Designation (BTD). The BTD is for the investigational treatment, orphan drug Pirfenidone, an oral drug for adult patients with the rare lung disease, Idiopathic Pulmonary Fibrosis (IPF).

IPF is a chronic, progressive, severely debilitating and ultimately fatal lung disease – characterized by progressive permanent scarring of lung tissue. There are currently no FDA-approved treatment options.

This is the 48th FDA BTD announced by a sponsor company, the 1st BTD for InterMune, and the 2nd BTD for IPF.

Pirfenidone Global Regulatory History

The global regulatory history of Pirfenidone is interesting, as the drug has been on the global market for a few years, but is not currently approved in the US. InterMune resubmits its Pirfenidone New Drug Application (NDA) to the FDA in May 2014, in response to a Complete Response Letter (CRL) the company receives in May 2010. In the CRL, the FDA recommends an additional Phase III clinical trial to support the efficacy of Pirfenidone. InterMune conducts the Phase III ASCEND clinical trial and results are presented at the May 2014 meeting of the American Thoracic Society and is also published on-line in the New England Journal of Medicine. In a Press Release in May 2014, Dan Welch, Chairman, CEO, and President of InterMune says that :

“If the FDA grants approval of our NDA within the 6-month review period of an NDA resubmission, we would be ready to launch Pirfenidone in the 1st quarter 2015”.

The European Commission (EC) grants marketing authorization in February 2011, in all 28 EU member states, for Esbriet (Pirfenidone) for the treatment of adults with mild to moderate IPF. Esbriet also receives approval for marketing in Iceland and Norway. Commercial sales of Esbriet in the EU include the key markets of Germany, France, Italy, and the UK.

Other global markets include:

•   2008 launch of Pirespa (Pirfenidone) in Japan

•   2012 launch of Pirespa in South Korea

•   January 2013 Esbriet launch in Canada

•   Approval in China, India, Argentia, and Mexico.

US IPF Race To Market

In an online 2013 PharmaTimes article, the following data is presented from GlobalData on the IPF global market :

•   Expects IPF therapy sales across US, France, Germany, Italy, Spain, and the UK to increase dramatically from $49 million in 2012 to over $1.1 billion by 2017

•   US IPF therapy sales is expected to increase from a value of $6.5 million in 2012 to $696 million in 2017

•   European IPF therapy sales is expected to increase from $43 million in 2012 to $419 million in 2017

•   The anticipated launch in the US of InterMune’s Esbriet and BI’s Nintedanib in 2015, in a market that currently has no therapeutic options, will cause the US market to exponentially grow to about $500 million in 2015.

Only a day before announcing this latest BTD, Boehringer Ingelheim (BI) announces on July 16th, that the company’s investigational orphan drug Nintedanib receives a BTD for the same indication. Nintedanib has FDA Priority Review and Fast Track status.

It will be interesting to watch over the next year the neck-to-neck race between InterMune’s Pirfenidone and BI’s Nintedanib, to see which product will launch first in the US market, what strategies both companies will use, and what market share each IPF drug will take. This is a great time for the US IPF community, as both of these two investigational drugs compete and are brought to market.

FDA IPF Workshop Announced

As part of the FDA’s Patient-Focused Drug Development (PFDD) initiative, a September 26, 2014 meeting is scheduled for IPF.

PFDD is a platform for patients, families, and caregivers to express their feelings and opinions about their particular disease and everyday living, the impacts of the disease on themselves and others, and to provide feedback on current treatments. It is a great way to start a conversation between patients and the FDA about this rare disease.

The timing of the FDA meeting and the two FDA BTDs this past week, suggest a positive regulatory outcome and new publicity for a rare disease.



FDA BTD Approval Chart

FDA BTD Statistics Chart

Coalition For Pulmonary Fibrosis

Pulmonary Fibrosis Foundation.

Please Note: “Swimmers at the 2007 Kingdom Games in Den Haag” by Knurftendans (Own work) [Public domain] | Wikimedia Commons.

Copyright © 2012-2014, Orphan Druganaut Blog. All rights reserved.


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