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Rare Diseases: Power of Photography

Orphan Druganaut Blog photo

Deborah Leydorf is an American photojournalist living in Geneva, Switzerland, who also works in the United Nations community as an External Relations Officer. Prior to moving to Europe in 2004, Ms. Leydorf worked as a disability rights advocate and fundraiser for the World Institute on Disability (WID) and also worked in the NGO (Non-Governmental Organization) community primarily as a fund-raiser.

Having a rare disease shapes how one sees the world. Ms Leydorf is producing a photo narrative project on the nature of rare disease and how it “… may project our inner worlds colored by the experience of illness through photography and words”. This project will form her thesis for a Masters in Photojournalism and Documentary Photography, at the London College of Communication. Ms. Leydorf describes her project:

“I am embarking on a quest with the aid of my camera to grasp how rare chronic illness affects one’s philosophic outlook and perspectives. I aim to heighten understanding of the experience of rare disease for others. A group of about eight people will have an opportunity to participate in this photo project, which will strive to capture each person’s unique biography through images and words. Concurrently, participants will be able to tell their own story on the project blog, I Think Therefore I Am.”

Ms Leydorf is interested in participants for the photography project that live in or near Geneva or London, at least 18 years of age, and have a rare autoimmune type disease. Those looking to be a part of the project will be asked to discuss it by Skype/Facetime or in person before participation can be confirmed. If one is interested, please contact Ms. Leydorf at

Photograph courtesy of Deborah Leydorf.

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

Orphan Drugs And Rare Diseases Conference: This Week In London


Hear Important Insights on the Early Access to Medicines Initiative and Discuss with Leading Pharma Experts

When Britain launched the Early Access to Medicines Initiative in March this year it aimed to accelerate the access to drugs for patients with rare diseases. This key implementation is not only extremely beneficial for patients but it is also going to open up the market and allow pharmaceutical companies to develop further.

Based on this, SMi is proud to announce that the CEO of MHRA will be giving a keynote address at its 3rd annual conference on Orphan Drugs and Rare Diseases taking place in London on October 20th and 21st 2014. This conference will also bring together leading experts and companies such as Novabiotics, Pfizer, AstraZeneca, Genethon, and M&C Saatchi and many more to discuss the latest developments in the market.

Benefits Of Attending

•   Focus on enhancing development pathways, with the growth of the commercial pipeline for orphan drugs and rare diseases

•   Assess tools for consideration to gain early market access and enhance patient recruitment

•   Interactive round table discussion led by Dominic Nutt, Director of Communications, The Saatchi Cancer Initiative, M&C Saatchi on creating a culture of innovation in the field of orphan drugs and rare diseases.

Key Speakers

•   Dr Gunter Harms, Market Access & Public Affairs Directore, Shire

•   Bertram Haussle, Chaiman of the Board of Management, IGES Institut

•   Josie Godfrey, Associate Director-Highly Specialised Technologies, NICE

•   Chris Hart, Information Practice Leader, AstraZeneca

•   Anthony Hall, Co-Founder, Findacure Foundation.

For more information please visit the conference website.

The Orphan Druganaut Blog is a Media Partner.

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

Ebola Virus: Orphan Drug ZMapp And Vaccine Developments

Ebola Virus Particles

With the Ebola Virus crisis escalating, the US Department of Health and Human Services’ (HHS) Office of the Assistant Secretary for Preparedness and Response (ASPR), is accelerating the development of treatments. Within ASPR, the Biomedical Advanced Research and Development Authority (BARDA) “ … develops and procures medical countermeasures – vaccines, medicines, diagnostics, and medical equipment – that address the public health and medical consequences of chemical, biological, radiological, and nuclear (CBRN) accidents, incidents and attacks, pandemic influenza, and emerging infectious diseases.”

I – 3 US Labs Asked For ZMapp Ebola Manufacturing Plans

The experimental Ebola orphan drug ZMapp is made up of 3 humanized monoclonal antibodies manufactured in plants, specifically Nicotiana. It is an optimized cocktail that is first identified as a drug candidate in January 2014. ZMapp has shown efficacy in a monkey model of Ebola, but has not yet been evaluated for safety in humans. Because ZMapp is an experimental product, only limited supplies were manufactured for testing in animals. ZMapp’s supply ran out in August 2014.

Reuters reports that BARDA asked three advanced biological laboratories to submit plans for producing ZMapp. BARDA issues a task order on October 16th that detailed plans are to be submitted for the mass production of ZMapp by November 10th. The three advanced labs are established by the US government in 2012 with $440 million in seed money, and are required to “develop flexible manufacturing capabilities to allow them to produce countermeasures against chemical, biological, and other threats.” Once the proposals are submitted, BARDA will pick one or more labs to produce ZMapp. ZMapp has been manufactured in tobacco plants by Kentucky Bioprocessing, a unit of Reynolds American Inc.

The three advanced biological laboratories are:

•   Texas A&M Health Science Center in partnership with Britain’s GlaxoSmithKline Plc

•   Emergent Biosolutions (Baltimore)

•   Lab located in Holly Springs, North Carolina led by Novartis AG.

II – Profectus BioSciences Vaccine

HHS announces on October 16th, that under a 1-year contract, BARDA will provide about $5.8 million in funding along with expertise and technical assistance to Profectus BioSciences (PBS), to further develop an experimental Ebola vaccine. The contract can be extended to a total of 13 months and $8.6 million.

PBS is a Baltimore, Maryland, clinical-stage biotechnology company, that develops preventive and therapeutic vaccines. PBS will manufacture the experimental Ebola vaccine for use in animal studies, future clinical trials, and will conduct animal studies to test safety. Once PBS completes this work, an investigational FDA New Drug Application (NDA) is to be submitted. Once the NDA is accepted, the vaccine can start the first clinical trials for safety in humans.

Per the HHS News Release, BARDA Director Robin Robinson, Ph.D., says:

 “We are pushing hard to advance the development of multiple products as quickly as possible for clinical evaluation and future use in preventing or treating this deadly disease … Our goal is to close the global gap in vaccines and therapeutics needed to protect the public health from Ebola as highlighted by the epidemic in West Africa.”

In March 2014, PBS along with the University of Texas Medical Branch at Galveston, Vanderbilt University Medical Center, and Tekmira Pharmaceuticals are awarded up to $26 million by the National Institutes of Health (NIH) to develop and test vaccines for both the Ebola and Marburg viruses.  

III – Other Ebola Vaccines

•   cAD3_EBOV (cAd3) vaccine, from GlaxoSmithKline and the NIH’s National Institute of Allergy and Infectious Diseases (NIAID), in Phase I clinical trials

•   Vaccine in Phase I clinical trials being tested by the Public Health Agency of Canada (PHAC) and NewLink Genetics Corporation (Iowa).

Please Note: “Ebola Virus Particles” courtesy of NIH/NIAID [CC-BY-2.0 Generic].

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

Lysogene’s Founder & CEO: A Conversation With Karen Aiach

Logo LYSOGENE 300x200

The Orphan Druganaut Blog is honored to have the opportunity to speak to Karen Aiach, founding president and CEO of Lysogene, a clinical stage biotechnology company specializing in intracerebral gene delivery for the treatment of neurological diseases. Lysogene’s first product is SAF-301, a gene therapy product that is for the treatment of a fatal Lysosomal Storage Disease (LSD), Mucopolysaccharidosis Type 3 or Sanfilippo Syndrome.

1)  Please share with the readers how Lysogene was formed and how you became involved?

KA.  My daughter, Ornella, was diagnosed with MPSIIIA in 2005, a few months after birth. MPSIIIA is a lethal rare lysosomal CNS disorder with an endless number of high unmet medical needs. It has a huge negative impact on patients and their families and there is no treatment. The development of treatment is complex, because biologically, the brain poses specific problems related to the difficulty of delivering therapeutic agents across the blood brain barrier. It progressively appeared that intracerebral gene therapy was likely to be the most realistic and robust option for these patients. This is when I made the decision to found the company Lysogene, with Olivier Danos as its scientific advisor. The aim was to bridge the gap between a huge unfairness on the one hand, and immense talents on the other, in order to bring a safe and effective treatment to children in desperate need. I leveraged on my original professional background (steering and piloting highly complex international projects at Arthur Andersen) to build the program, and raise funds. Attracted by the compelling mission, outstanding scientists, clinicians, regulatory experts, patient advocate groups and others rallied to the cause. We translated from bench to bedside in less than 5 years. Our phase I/II clinical trial, the first gene therapy trial in MPSIIIA, started in August 2011.

 2)  What is the mission of Lysogene?

KA.  Lysogene’s mission is to improve the normal course of incurable, life threatening CNS diseases. We do this by developing breakthrough, safe and effective, gene therapy. Lysogene has the support of leading life-science VCs and recently raised € 16.5 million. Our aim is to bring to the market the first gene therapy for Sanfilippo A. We are also expanding our pipeline with a second product for another rare CNS indication. Lysogene has a fascinating scientific case and our collaborators work relentlessly to develop new and often emerging skills, necessary to manage this extraordinarily challenging and cutting edge science.

  3)  Your first product in the Pipeline is gene therapy product SAF-301 for Sanfilippo Syndrome. What stage of development is SAF-301 in? What is “intracerebral gene delivery” and the importance of it?

KA.   In 2013, we successfully completed a phase I/II study with SAF-301. SAF-301 is an intracerebrally administered AAVrh10 encoding sulfamidase, the missing enzyme in Sanfilippo A. The aim now is to evaluate SAF-301 in a phase II/III pivotal clinical trial with the ultimate objective of applying to the regulatory authorities for a marketing authorisation in the EU and US, to start.

Intracerebral gene therapy enables delivery of the functional version of the defective gene directly into a young patient’s brain. The gene therapy is delivered in a single dose to the central nervous system providing constant levels of the therapeutic protein. Unlike other approaches focusing on managing symptoms or preventing complications, Lysogene’s technology addresses the root cause and, therefore, ultimately aims at curing the disease. Importantly, Lysogene’s single-dose approach is expected to represent a considerable benefit in the quality of life for patients and their families.

 4)  Are you working with patient advocacy organizations on the development of SAF-301?

KA.  Early interactions and collaborations with PAG have been central in our strategy. This is why, Samantha Parker’s mission as Chief Patient Access / Health Policies Officer, is a strategic position within our company. Samantha has 15 years’ experience working in rare disease research and public health collaborative networks. She has paid specific attention to the role of patient organizations and the provision of information and access to therapeutics. Working closely with PAGs and leveraging on our mutual expertise at every stage of the development has been an invaluable asset –their experience and advice has been essential in accurately capturing the natural history of MPSIIIA and the quality of life dimensions, to the protocol design, informed consent process and long-term follow up of the study –. We are proud of our outreach to patient groups and communities and aim at intensifying productive and pioneering interactions, including online communities and social networks, all across our portfolio of activities. Lysogene has just submitted a project to the European Commission to build an MPSIIIA consortium with substantial patient representation to ensure probity, openness and good science.

 5)  What do you see as the relationship between patient advocacy organizations, biotechnology companies, and international regulatory agencies for the future?         

 KA.  These relationships are key to the successful drug development process. It’s a fact. As this notion progresses, these relationships should intensify and multi-stakeholder approaches become the standard. I believe that it is for the best of patients and their families who have to be the ultimate beneficiaries of this battle.

 Thank you for your time and sharing with the Orphan Druganaut readers Lysogene’s  mission and the status of SAF-301.

Lysogene Logo courtesy of Lysogene.

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

Europe’s October 2014 Products Recommended For Orphan Drug Designation


The European Medicines Agency (EMA) Committee for Orphan Medicinal Products (COMP) held a meeting October 7 – 9, 2014.

At this meeting, there are 29 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.

EMA COMP October 2014 ODDs Recommended

Product Name Sponsor Company Indication
1-(6-benzothiazolylsulfonyl)-5-chloro-1H-indole-2-butanoic acid Inventiva Systemic Sclerosis
1-(6-benzothiazolylsulfonyl)-5-chloro-1H-indole-2-butanoic acid Inventiva Idiopathic Pulmonary Fibrosis
4-[[(1S,4S)-5-[[4-[4-(oxazol-2-yl)phenoxy]phenyl]methyl]-2,5-diazabicyclo[2.2.1]hept-2-yl]methyl]benzoic acid Cote Orphan Consulting UK Limited Cystic Fibrosis
combination of H-Lys-Lys-Gly-Pro-Arg-Cys(SH)-Leu-Thr-Arg-Tyr-Tyr-Ser-Ser-Phe-Val-Asn-Met-Glu-Gly-Lys-Lys-OH and H-Lys-Lys-Gly-Asp-Asn-Ile-Met-Val-Thr-Phe-Arg-Asn-Gln-Ala-Ser-Arg-Pro-Tyr-Gly-Lys-Lys-OH Apitope International NV Hemophilia A
Donor T lymphocytes depleted ex vivo of host alloreactive T cells using photodynamic treatment Kiadis Pharma Netherlands B.V. Acute Myeloid Leukemia
Imatinib Numedicus Limited Acute Respiratory Distress Syndrome
Mexiletine Hydrochloride Temmler Pharma GmbH Myotonic Disorders
Recombinant human pentraxin-2 FGK Representative Service GmbH post-essential thrombocythaemia myelofibrosis
Recombinant human pentraxin-2 FGK Representative Service GmbH post-polycythaemia vera myelofibrosis
Recombinant human pentraxin-2 FGK Representative Service GmbH primary myelofibrosis
Selinexor Clinipace GmbH Plasma Cell Myeloma
Selinexor Clinipace GmbH chronic lymphocytic leukaemia / small lymphocytic lymphoma
(2R,3S)-2-(4-cyclopentylaminophenyl)-1-(2-fluoro-6-methylbenzoyl)piperidine-3-carboxylic acid(4- methyl-3-trifluoromethylphenyl)amide ChemoCentryx Limited microscopic polyangiitis
(2R,3S)-2-(4-cyclopentylaminophenyl)-1-(2-fluoro-6-methylbenzoyl)piperidine-3-carboxylic acid(4- methyl-3-trifluoromethylphenyl)amide ChemoCentryx Limited granulomatosis with polyangiitis
(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 Gaucher Disease
Adeno-associated viral vector serotype 8 containing the human MD1 gene Généthon Duchenne Muscular Dystrophy
Arimoclomol citrate Orphazyme ApS Niemann-Pick disease
Ataluren PTC Therapeutics Mucopolysaccharidosis type I
Bazedoxifene acetate Consejo Superior de Investigaciones Cientificas (CSIC) hereditary haemorrhagic telangiectasia
Chloroquine DualTpharma B.V. Glioma
Dantrolene sodium Eagle Laboratories Ltd malignant hyperthermia
Diaspirin cross-linked haemoglobin New B Innovation (UK) Limited hepatocellular carcinoma
Humanised IgG1 monoclonal antibody against human eotaxin-2 CBR Biotech Strategies GmbH Systemic Sclerosis
Olaptesed Pegol Noxxon Pharma AG Glioma
Palovarotene Medpace Germany GmbH  fibrodysplasia ossificans progressive
Pentosan polysulfate sodium Plexcera Therapeutics EU Limited mucopolysaccharidosis type I
Pro-Pro-Thr-Val-Pro-Thr-Arg Alain TAIEB xeroderma pigmentosum
Siponimod Novartis Europharm Limited Dermatomyositis
Siponimod Novartis Europharm Limited Polymyositis


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.

Crowdfunding For A Cure For Ebola

Ebola Virus Particles



During the past year, the concept of crowdfunding and its relationship to rare diseases and orphan drugs has become a popular way of raising funds. Crowdfunding is a “collective effort of individuals who network and pool their money, usually via the Internet, to support efforts initiated by other people or organizations.”

There are two crowdfunding models :

•   Donation model

•   Equity-based or investment-based model.

The first type of model, the donation model, posts interesting projects on websites or on a crowdfunding platform, and then, individuals donate money for no return or, at most, access to discounts or early release of products for a particular cause or campaign. The second type of model, the equity-based model involves actual investment in an entity that is pursuing a project and where individuals receive an ownership interest in the entity.

To help find a cure for the Ebola Virus, recent contributions include:

•   Facebook’s Mark Zuckerberg’s Silicon Valley Community Foundation donates $25 million to the CDC Foundation

•   Microsoft co-founder Paul Allen gives $9 million

•   Bill & Melinda Gates Foundation commits $50 million.

Dr. Erica Ollmann Saphire, a professor in the department of immunology and microbial science at the Scripps Research Institute in La Jolla, California, recently launches a crowdfunding campaign with the mission of raising $100,000 to supplement funding from the federal government to continue her search for a cure for the Ebola Virus. Dr. Saphire assisted with research on the experimental ZMapp antibody cocktail that has been in the news. According to the crowdfunding campaign’s website, Dr. Saphire has organized a group of researchers with the purpose of developing the ZMapp serum. As of 10.15.14, $40,315 or approximately 40% of the goal has been raised.

The Scripps Research Institute on their Facebook page shared the following:

“Samples are being send to [Saphire’s] lab from around the world, but the number of samples outpaces the ability of her current equipment to process them. Funding for the equipment and staff will allow Dr. Saphire to work more aggressive to fight Ebola.”

ZMapp, from LeafBio Inc (Mapp Pharmaceuticals – San Diego) receives FDA Orphan Drug Designation (ODD) in August 2014 for the treatment of the Ebola Virus :

FDA Orphan Product Designation Database Record

Generic Name: Monoclonal antibody consisting of three mouse/human chimeric IgG1 monoclonal antibodies (c2G4, c4G7, and c13C6) that target Ebola virus
Trade Name: n/a
Date Designated: 08-25-2014
Orphan Designation: Treatment of Ebola virus infection
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: LeafBio, Inc. 6160 Lusk Blvd., Suite C105 San Diego , CA 90121


ZMapp is made up of 3 humanized monoclonal antibodies manufactured in plants, specifically Nicotiana. It is an optimized cocktail that was first identified as a drug candidate in January 2014. ZMapp has not yet been evaluated for safety in humans and very little of the drug is currently available. Because ZMapp is an experimental product, only limited supplies were manufactured for testing in animals. ZMapp has shown efficacy in a monkey model of Ebola.

ZMapp was the experimental anti-viral drug believed to have cured 2 American missionaries, Dr. Kent Brantly and Nancy Writebol, an English nurse, and two Liberian doctors. All of the samples of ZMapp are now gone and the company is looking for help to make more.

Please Note : “Ebola Virus Particles” courtesy of NIH/NIAID [CC-BY-2.0 Generic].

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

FDA Breakthrough Therapy Designation: 2 Drugs Approved For Idiopathic Pulmonary Fibrosis


The FDA announces on October 15th the approval of two Breakthrough Therapy Designations (BTDs) for the treatment of the rare disease,  Idiopathic Pulmonary Fibrosis (IPF):

•   InterMune’s Esbriet (Pirfenidone)

•   Boehringer Ingelheim Pharmaceuticals’ Ofev (Nintedanib).

I – What is IPF ?

IPF is a chronic, progressive, severely debilitating and ultimately fatal lung disease – characterized by progressive permanent scarring of lung tissue. There are approximately 100,000 Americans with IPF. Up until today, there were no currently FDA-approved treatment options.

II – Esbriet (Pirfenidone)

InterMune, a global biotechnology company focusing on the development and commercialization of therapies in pulmonology and orphan fibrotic diseases, announces in July 2014 that the company receives the FDA BTD for orphan drug Esbriet (Pirfenidone), an oral drug for adult patients with IPF. The FDA grants Esbriet Fast Track, Priority Review, Orphan Drug Designation, and Breakthrough Therapy Designation. Esbriet is approved ahead of its PDUFA Date of November 23, 2014, the date the FDA was scheduled to complete the review of the drug application.

Esbriet was developed by InterMune, which was acquired by Roche in August 2014 for $8.3 billion.

According to a Press Release today, Esbriet will be available to patients in the United States within 2 weeks, along with a comprehensive patient support program designed to help with education, access, and financial support.

The global regulatory history of Esbriet is interesting, as the drug has been on the global market for a few years, but was not approved in the US before today’s approval. 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.

The European Commission (EC) grants marketing authorization in February 2011, in all 28 EU member states, for Esbriet 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.

III – Ofev (Nintedanib)

Boehringer Ingelheim (BI) announces in July 2014, that the company’s investigational orphan drug Ofev (Nintedanib) receives the FDA BTD for the treatment of IPF. Similar to Esbriet, the FDA grants Ofevt Fast Track, Priority Review, Orphan Drug Designation, and Breakthrough Therapy Designation. Ofev is being approved ahead of its PDUFA date of January 2, 2015, the date the agency was scheduled to complete the review of the drug application.

According to today’s BI Press Release, Ofev will be available to the IPF community within 10 days, along with comprehensive patient support resources.

Other Ofev Global Regulatory Activity

Regulatory Date Regulatory Agency & Action Taken
June 2011 FDA Orphan Drug Designation
April 2013 European Commission (EC) Orphan Designation
June 2013 FDA Fast Track Designation
June 2014 FDA Priority Review Designation
June 2014 EMA validates application for marketing authorization & grants accelerated review
July 2014 FDA BTD
October 2014 FDA Approval


IV – US IPF Market Race And Availability

According to a Press Release today, Esbriet will be available to patients in the United States within 2 weeks, along with a comprehensive patient support program designed to help with education, access, and financial support.

According to today’s BI Press Release, Ofev will be available to the IPF community within 10 days, along with comprehensive patient support resources.

According to an online San Francisco Business Times article, Esbriet will cost about $94,000/year/patient in the United States and about $40,000 in Europe and Canada, though the price varies from country to country. No pricing for Ofev as of this Blog Post has been made.

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 Ofev, in a market that currently has no therapeutic options, will cause the US market to exponentially grow to about $500 million in 2015.

It will be interesting to watch over the next year the neck-to-neck race between InterMune’s Esbriet and BI’s Ofev, 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.



FDA BTD Approval Chart

FDA BTD Statistics Chart.

Please Note: “Kalymnos 2005 022” by David Bolius [CC By-SA 2.5] | Wikimedia Commons.

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


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