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Orphan Drugs And Rare Diseases: Interview With Shire’s Dr. Gunter Harms


SMi is proud to have Dr. Günter Harms, Market Access & Public Affairs Director at Shire, giving the opening address at this year’s Orphan Drugs and Rare Diseases conference taking place, October 20 – 21, London. Dr. Harms’ knowledge and expertise will provide key insight into market access and the challenges faced in the field.

SMi recently caught up with Dr. Günter Harms and here is what he had to say:

Q: What do you believe are the biggest challenges for the pharmaceutical industry regarding Orphan Drugs and Rare Diseases?  

A: With the unique complexities of rare diseases and national differences in patient access it really requires a lot of dialogue between stakeholders. General trends such as the evolving HTA processes also impact orphan drugs and require new approaches and also increased involvement of the patient and patient representatives.

Q: What is the future for Orphan Drugs?

A: R&D of orphan drugs is a long term commitment, with an increasing availability of treatments over the last decade – for numerous serious, life-threatening rare diseases were previously no therapy existed. This is a very successful development since implementation of the EU regulation for Orphan Medicinal Products. With up to 8,000 rare diseases, and for many with still no treatments, there is still a long way to go.

Please visit the conference website for additional information and for more of this interview.


•   Insights from Ian Hudson, CEO, MHRA on the Early Access to Medicines Initiative and adaptive licensing

•    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.


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

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

•   Chris Hart, Information Practice Leader, AstraZeneca

•   Anthony Hall, Co-Founder, Findacure Foundation.

If you would like to attend this conference please contact Alex McCann on +44 (0) 207 827 6128 or email

Meeting Logo courtesy of SMi. The Orphan Druganaut Blog is a Media Partner.

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

FDA August 2014 Products Receiving Orphan Designation







The chart below identifies FDA August 2014 Products Receiving Orphan Designation as of 08/31/14 in ascending “Orphan Drug Designation Date” order.

FDA August 2014 Products Receiving Orphan Designation

Name/ ODD Date Sponsor Company  Indication
Roseburia Hominis/08.04 GT Biologics (UK) Ulcerative



Anti-Beta1 integrin monoclonal antibody/ 08.07 OncoSynergy Glioblastoma
N1,N14,-diethyl-3,12,-dihydroxyhomospermine/ 08.07 Sun BioPharma Pancreatic


Nivolumab/ 08.07 Bristol-Myers Squibb Hodgkin  Lymphoma
Dry extract from Betulae Cortex (birch bark)/08.07 Birken AG (Germany) Epidermolysis Bullosa
Mocetinostat/ 08.07 MethylGene Diffuse large B-cell lymphoma
Recombinant human deoxyribonuclease I (DNase I)/ 08.18 Guardum Pharmaeuticals Prevention of  graft

-vs-host disease

Immune Globulin Subcutaneous (Human), 20% Liquid/08.18 CSL Behring Chronic inflammatory demyelinating polyneuropathy
Recombinant human deoxyribonuclease I/ 08.19 Guardum Pharmaceuticals Treatment of graft



Recombinant human monoclonal antibody of the IgG1 kappa class against human macrophage colony-stimulating factor/ 08.19 Novartis Pigmented villonodular synovitis, includinggiant celltumor of



Selective inhibitor of fungal lanosterol demethylase/ 08.19 Viamet Pharmaceuticals Cryptococcal meningitis
Sodium phenylbutyrate/ 08.19 Acer Therapeutics Maple




Altiratinib / 08.19 Deciphera Pharmaceuticals Glioblastoma multiforme
Olaptesed pegol/ 08.19 Noxxon Pharma AG (Germany) Glioblastoma
Dexrazoxane hydrochloride/ 08.19 Satiscor Prevention of cardiomyopathy
Cannabidiol/ 08.20 Insys Therapeutics Glioblastoma
Monoclonal antibody consisting of three mouse/human chimeric IgG1 monoclonal antibodies (c2G4, c4G7, and c13C6) that target Ebola virus/ 08.25 LeafBio, Inc Ebola virus infection
Oprozomib/ 08.25 Onyx Therapeutics Waldenstrom’s macro-globulinemia
Recombinant human Pentraxin-2/ 08.26 Promedior Myelofibrosis
Vemurafenib/ 08.26 Genentech Hairy cell leukemia
(3S)-1-azabicylo[2.2.2]oct-3yl {2-[2-(4-fluorophenyl)-1,3-thiazol-4-yl]propan-2-yl}carbamate/ 08.26 Genzyme Fabry’s


Gefitinib/ 08.26 AstraZeneca Epidermal growth


receptor mutation-positive


Hematopoietic stem and progenitor cells expanded ex-vivo with a low molecular weight aryl hydrocarbon receptor (AHR) antagonist/ 08.27 Novartis Hematopoietic support in patients with acute lymphoblastic leukemia
2-{[(1r,4r)-4-(((4-chlorophenyl)(phenyl)carbamoyloxy)methyl)cyclohexy]methoxy} acetic acid/ 08.28 Arena Pharmaceuticals Pulmonary arterial hypertension
Methotrexate/ 08.28 The Universtiy of Kanasa Medical Center Myasthenia Gravis

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


•   ODD for LeafBio’s Ebola Virus treatment

•   Novartis receives 2 ODDs

•   Approximately 50% are for an oncology indication

•   ODD for several rare diseases:

1.   Epidermolysis Bullosa (EB)

2.   Maple Syrup Urine Disease

3.   Fabry’s Disease

4.   Myasthenia Gravis

5.   Pulmonary Arterial Hypertension (PAH).

Please Note: “Two small test tubes held in spring clamps” courtesy of  Amitchell125 at English Wikipedia [CC-BY-SA-3.0] | Wikimedia Commons.

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

FDA Orphan Drug Designation For Treatment Of Ebola Virus

Ebola Virus Particles






On August 25th, the FDA grants LeafBio Inc’s ZMapp product an Orphan Drug Designation (ODD) for the treatment of the Ebola virus infection:

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


LeafBio Inc., is the commercialization arm of Mapp Biopharmaceutical, a company developing novel pharmaceuticals for the prevention and treatment of infectious diseases. Mapp Biopharmaceutical focuses on unmet needs in global health and biodefense. As Mapp Biopharmaceutical’s products transition to clinical evaluation, LeafBio assumes ownership and commercialization responsibilities.

ZMapp  is the result of a collaboration between:

•   Mapp Biopharmaceutical (San Diego)

•   LeafBio (San Diego)

•   Defyrus Inc. (Canada)

•   U.S. government

•   Public Health Agency of Canada (PHAC).

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 given to American missionaries Kent Brantly and Nancy Writebol, as well as a Spanish priest and 3 African healthcare workers. One of the African healthcare workers died.

Mapp Pharmaceutical has only 9 employees. All of the samples of ZMapp are now gone and the company is looking for help from the federal government to make more. Meanwhile, the National Institutes of Health (NIH) has the go ahead to start testing a new Ebola vaccine in humans, with data maybe being available by the end of 2014. The vaccine is developed by NIH and Okairos, a biotech GlaxoSmithKline acquired in 2013.

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

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

Lysosomal Storage Disorders: Gene Therapy And FDA Orphan Designations



No gene therapy has ever been approved for sale in the United States. In Europe, the EMA (European Medicines Agency), has given regulatory approval to UniQure, to sell its gene therapy, Glybera, for the treatment of the rare disease, Lipoprotein Lipase Deficiency (LPLD).

This is the twelfth Blog Post in a continuing series that examines Lysosomal Storage Disorders (LSDs) in the rare disease and orphan drug space. This Blog Post identifies gene therapies for LSDs that have received FDA Orphan Drug Designation in 2013 – 2014.

FDA Orphan Designated Gene Therapies For LSDs (2013 – 2014) 

Drug Name Sponsor Company Indication FDA ODD Date
AAV-G6Pase vector GlyGenix Therapeutics Glycogen storage disease type Ia 03.11.13
Recombinant adenovirus vector AAV2/rh8 expressing human B-hexosaminidase A & B subunits National Tay-Sachs & Allied Diseases Association (NTSAD) Tay-Sachs Disease 03.25.13
Recombinant adeno- associated virus vector AAV2/rh8 expressing human B-hexosaminidase A and B subunits National Tay-Sachs & Allied Diseases Association (NTASD) Sandhoff Disease 03.25.13
Adeno associated viral vector serotype rh.10 carrying the human SGSH and SUMF1 cDNAs Lysogene (France) MPS III A (Sanfilippo Syndrome) 05.06.13
Recombinant AAV9 expressing human sulfoglucosamine sulfohydrolase AbeonaTherapeutics MPS III A (Sanfilippo Syndrome) 04.29.14
Recombinant AAV9 expressing human alpha-N-acetylglucosaminidase Abeona Therapeutics MPS III B (Sanfilippo Syndrome) 04.30.14


Please Note: “DNA Repair” courtesy of Tom Ellenberger, Washington University School of Medicine in St. Louis. [Public domain] | Wikimedia Commons..

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

FDA Breakthrough Therapy Designation: Statistics Chart Updated (as of 08/22/14)

FDA logo

The CBER BTD #s are current as of 07/31/14 and the CDER BTD #s are current as of 08/22/14.

The changes are as follows :

•   The total # of FDA CDER + CBER BTD Requests received by the FDA increases from 207 to 215

•   The total # of FDA CDER + CBER BTDs Granted by the FDA increases from 58 to 61

•   The total # of FDA CDER + CBER BTDs Denied by the FDA increases from 113 to 117

•   The total # of FDA CDER + CBER BTDs Pending by the FDA increases from 36 to 37.

FDA CBER + CDER BTDs as of 08/22/14

Breakthrough Therapy  Designation (BTD) Category Total # of CBER Designations (07/09/12-07/31/14) Total # of CDER Designations (07/09/12-08/22/14) Total # of CBER +   CDER BTD Designations (07/09/12-08/22/14)
Total # of BTD Requests Received 32 183 215
Total # of BTDs Granted 6 55 61
Total # of BTDs   Denied 25 92 117
Total # of BTDs   Pending 1 36 37



•   28.4 %    of the total # of BTD Requests Received results in the BTD being granted

•   54.4 % of the total # of BTD Requests Received results in the BTD being denied

•   17.2 % of the total # of BTD Requests Received results in the BTD pending.



FDA BTD Approval Chart

FDA BTD Statistics Chart.

Please Note: FDA Official Logo from FDA website.

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

Orphan Drugs At BioPharma Mexico 2014

BioPharma Mexico banner250x250

The 2nd Annual BioPharma Mexico conference, November 4 – 5, 2014, in Mexico City, brings together COFEPRIS, payers, government, biopharma, academia, and other stakeholders to talk about strategies to bring biocomparables, stem cells, and orphan drugs to market faster.

No orphan drugs are currently manufactured in Mexico nonetheless, orphan diseases have gained more recognition in the health and pharma communities. Despite the limited number of patients for a particular drug, this market is on the rise in Mexico.

Victor M. Anaya Bourgoing, General Director of Genzyme Mexico and Raul Vivar, Country Medical Head of Shire Mexico, will both be speaking on the state of orphan drugs at this year’s BioPharma Mexico.

Topics on orphan drugs in Mexico to be discussed include:

•   Understanding where COFEPRIS stands on regulation

•   Do’s and don’ts of importing orphan drugs

•   Accessing rare disease patients

•   Recent Orphan Drug Act in Mexico

•   Raising awareness of orphan diseases.

A compiled list of the top 20 trends in the Mexican pharma industry, from regulation to market access, is available as an eBook to download. The eBook includes segments on orphan drugs, patient groups, and awareness of orphan diseases.

Download the eBook.

To join or find out more about the event, visit the event website.

Meeting Logo courtesy of BioPharma Mexico 2014. The Orphan Druganaut Blog is a Media Partner.

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

FDA Breakthrough Therapy Designation: GSK Receives Approval For Additional Indication For Promacta


GlaxoSmithKline (GSK) announces on August 26th that the  FDA approves a supplemental New Drug Application (sNDA), for the once-daily use of Promacta (Eltrombopag) in patients with Severe Aplastic Anemia (SAA), who have had an insufficient response to Immunosuppressive Therapy (IST). Promacta is a new 1st-in-class treatment option for previously treated SAA patients.

Eltrombopag is marketed under the brand name Promacta in the US and Revolade in most ex-US countries. In addition to the approval of Promacta for SAA in the US, eltrombopag is indicated for the treatment of thrombocytopenia in patients.

SAA is a rare disorder where the bone marrow fails to make enough new blood cells. There are currently no therapies approved for this indication. About forty percent (40%) of patients who do not respond to initial IST die within 5 years of diagnosis.

FDA Regulatory Actions

•   Orphan Drug Designation (ODD) in May 2008 & approval in November 2008 for Thrombocytopenia

•   ODD in November 2013 for Aplastic Anemia

•   Breakthrough Therapy Designation (BTD) in February 2014 for cytopenias in patients with SAA who have had insufficient response to IST

•   Priority Review in April 2014

•   Approval for additional indication in August 2014 for patients with SAA who have had insufficient response to IST.



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.


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