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Orphan Drugs: 2 New FDA Designations


This Blog Post discusses two new FDA Orphan Drug Designations (ODDs) for the following two indications:

•   Amyotrophic Lateral Sclerosis (ALS)

•   Retinitis Pigmentosa (RP).

I – Mayo Clinic And ALS

On October 22nd, the FDA grants the Mayo Clinic in Rochester, Minnesota, ODD for ALS.

ALS, also known as Lou Gehrig’s Disease, is a fatal progressive neurodegenerative disease. ALS destroys basic movements, such as breathing, and typically causes death within 2-5 years after diagnosis.

FDA ODD Database Record For Mayo Clinic’s ALS Indication

Generic Name: Autologous adipose derived mesenchymal stromal cells
Trade Name: n/a
Date Designated: 10-22-2014
Orphan Designation: Amyotrophic Lateral Sclerosis
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: Mayo Clinic 200 First Street SW Rochester, MN 55905


II – Gene Therapy For RP

On October 20th, the FDA grants RetroSense Therapeutics, an Ann Arbor, Michigan, biotechnology company ODD for the company’s gene therapy for Retinitis Pipmentosa (RP). RetroSense Therapeutics is developing gene therapy to restore functional vision in patients suffering from blindness due to RP and advanced dry-AMD. There are currently no FDA approved therapies to improve or restore vision in patients with these retinal conditions.

Retinitis pigmentosa (RP) is a group of inherited genetic disorders characterized by progressive peripheral vision loss and night vision difficulties followed by eventual central vision loss and blindness in many cases. RP is typically diagnosed in adolescents and young adults. The rate of progression and degree of visual loss varies from person to person. Approximately 100,000 people living in the US and between 0.03% and 0.04% of the global population suffer from RP.

RetroSense Therapeutics’ lead gene therapy product candidate, RST-001, is being developed initially for RP. RST-001 is a gene therapy that delivers a photosensitivity gene (channelrhodopsin-2) to retinal cells, to restore the ability of eyes to sense light. RST-001 is an injection into the eye, where channelrhodopsin-2 is encapsulated in a virus vector that delivers the gene. Once the gene is delivered to the retinal cell, it begins to produce light-sensitive protein.

FDA ODD Database Record For RetroSense Therapeutics’ RP Indication

Generic Name: Non-replicating recombinant adeno-associated virus vector containing a fragment of the gene encoding channelrhodopsin-2 protein
Trade Name: n/a
Date Designated: 10-20-2014
Orphan Designation: Treatment of Retinitis Pigmentosa
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: RetroSense Therapeutics, LLC 330 East Liberty Street, LL Ann Arbor, MI 48104


Please Note: “Chemicals in Flasks by Joe Sullivan (Flickr) [CC-BY-2.0] | Wikimedia Commons.

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

FDA Breakthrough Therapy Designation: Statistics Chart Updated (as of 10/17/14)

FDA logo

The CBER BTD #s are current as of 09/30/14 and the CDER BTD #s are current as of 10/17/14.

The changes are as follows:

•   The total # of FDA CDER + CBER BTD Requests received by the FDA increases from 228 to 239

•   The total # of FDA CDER + CBER BTDs Granted by the FDA increases from 65 to 67

•   The total # of FDA CDER + CBER BTDs Denied by the FDA increases from 124 to 126

•   The total # of FDA CDER + CBER BTDs Pending by the FDA increases from 39 to 46.

FDA CBER BTDs + CDER BTDs (as of 10/17/14)

Breakthrough Therapy  Designation (BTD) Category Total # of CBER Designations (07/09/12-09/30/14) Total # of CDER Designations (07/09/12-10/17/14) Total # of CBER +   CDER BTD Designations (07/09/12-10/17/14)
Total # of BTD Requests Received 37 202 239
Total # of BTDs Granted 7 60 67
Total # of BTDs   Denied 26 100 126
Total # of BTDs   Pending 4 42 46



•   28.0 % of the total # of BTD Requests Received results in the BTD being granted

•   52.7 % of the total # of BTD Requests Received results in the BTD being denied

•   19.3 % 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.

Rare Disease Day 2015


February 28, 2015, will be the 8th Rare Disease Day. The event is created and coordinated by EURORDIS along with many international rare disease National Alliances. The purpose of this annual celebration is to raise awareness with the public, researchers, healthcare professionals, and other stakeholders who all have an interest in rare diseases. It is an international advocacy day to spread the message of rare diseases as part of the global healthcare environment.

The theme for Rare Disease Day 2015 is “Living with a Rare Disease”, with the slogan, “Day-by-day, hand-in-hand!” :

Living with a Rare Disease pays tribute to the millions and millions of parents, siblings, grandparents, spouses, aunts, uncles, cousins, and friends whose daily lives are impacted and who are living day-by-day, hand-in-hand with rare disease patients.

The website for 2015 will launch soon, with all the information you need to create an event or find something happening where you live.

Please Note: “Rare Disease Day Logo” courtesy of

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

Orphan Drugs: Free Mobile App Launched By Coté Orphan



Coté Orphan, LLC, a regulatory affairs advisory firm located in Silver Spring, Maryland, announces the launch of a FREE orphan drug mobile app, OrphanDB, that provides the user with up-to-date information on orphan drug designation status for two regulatory agencies:

•   US Food & Drug Administration (FDA)

•   European Medicines Agency (EMA).

OrphanDB provides the user with a 1-stop searching capability, right in one’s pocket. It provides the user with a single location for querying about a product’s orphan status, without having to go to multiple international databases to search for information. The user can search for orphan drugs that match specific requirements such as:

•   Disease

•   Active compound

•   Trade or generic name

•   Sponsor company.

OrphanDB also provides:

•   Immediate access to FDA/EMA detail information on a specified orphan drug designation submission such as approval status

•   Notification capability that allows the user to track the status of an orphan drug.

OrphanDB is available FREE for downloading at:

•   iOS users (iTunes)

•   Android users (Google play).

Logo courtesy of Coté Orphan, LLC .

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

Vertex Pharmaceuticals: FDA Advisory Committee Recommends Kalydeco For R117H CF Mutation


On October 21st, the FDA’s Pulmonary Allergy Drugs Advisory Committee (PADAC) recommends by a vote of 13 to 2, the approval of orphan drug Kalydeco (Ivacaftor) for Cystic Fibrosis (CF) patients ages 6 and older who have the R117H mutation in the CF Transmembrane Regulatory (CFTR) gene. In the US, approximately 500 patients ages 6 and older have the R117H mutation.

It is the FDA Advisory Committee that provides the FDA with “independent scientific and medical advice on safety, effectiveness, and appropriate use of potential new medicines.” The FDA often follows the advice of the FDA Advisory Committee. The FDA is expected to make a decision on the approval by December 30, 2014 (PDUFA Date).

Kalydeco receives approval from the FDA in January 2012 for CF patients, ages 6 and older who have at least one copy of the G551D mutation. In February 2014, the FDA approves for people with CF, ages 6 and older, the following 8 mutations in the CFTR gene: G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P and G1349D. Thus in the US, Kalydeco is currently approved for 9 mutations.

According to an online Wall Street Journal article, the FDA approval of Kalydeco for the R117H mutation, can result in adding “as much as $160 million in additional revenue by 2017” (the wholesale price of Kalydeco is $311,000/patient).

In Canada, Kalydeco is currently approved for the same US 9 mutations and the additional mutation G970R.

What is being closely watched by patients, investors, and the pharmaceutical industry, is the drug combination of Kalydeco + Lumacaftor, that Vertex Pharmaceuticals is currently testing in patients with the F508del mutation. There are approximately 28,000 people globally that have this mutation.

Please Note: “Chemlab2” by Tahoenathan (Own work) [CC-BY-SA-3.0] | via Wikimedia Commons.

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

FDA Orphan Drug Designations: 2014 9-Month Approval Rate

NCI Interferon Flasks



The chart below compares the number of FDA Orphan Drug Marketing Approvals in the first 9 months of 2013 versus the number of FDA ODD Marketing Approvals in the first 9 months of 2014. The FDA’s Orphan Drug Product Designation Database Application is the source of the information.

FDA Orphan Drug 9-Month Approval Rate (2013 vs. 2014)

# of Jan-Sept   2013 FDA ODD Approvals # of Jan-Sept 2014   FDA ODD Approvals % Change From 2013 To 2014
23 31 34.8 %


Thus, there is approximately a 34.8 % increase in the # of FDA Orphan Drug Marketing Approvals in the first 9 months of 2014 compared to the # of FDA Orphan Drug Marketing Approvals in the first 9 months of 2013.

The chart below shows the 31 FDA ODD Marketing Approvals in the first 9 months of 2014, in ascending chronological order.

FDA Orpan Drug Approvals for 2014 (January-September)

Brand/Generic    Name Orphan   Designation Marketing   Approval   Date Sponsor
Mekinist (Trametinib) and Tafinlar (Dabrafenib) Melanoma 01.08.14/ 01.09.14 GSK
Hetlioz (Tasimelteon) Non 24-hour sleepwake disorder in blind individuals without light perception 01.31.14 Vanda Pharmaceuticals
Imbruvica (Ibrutinib) Chronic Lymphocytic Leukemia (CLL) 02.12.14 Pharmacyclics
Vimizim (Elosulfase Alfa) Mucopolysaccharidosis (MPS) Type IV A (Morquio A syndrome) 02.14.14 BioMarin Pharmaceutical
Northera (Droxidopa) Symptomatic neurogenic orthostatic hypotension 02.18.14 Lundbeck LLC
Myalept (Metreleptin) Lipodystrophy 02.24.14 Amylin Pharmaceuticals
Hemangeol (Propranolol) Proliferating infantile hemangioma 03.14.14 Pierre Fabre Dermatologie
Impavido (Miltefosine) Leishmaniasis 03.19.14 Knight Therapeutics
Alprolix (Coagulation factor IX (recombinant), Fc fusion protein) Hemophilia B 03.28.14 Biogen Idec
Kalbitor (Ecallantide) Acute attacks of hereditary angioedema (HAE) 03.28.14 Dyax Corp
Lipiodol (Ethiodized Oil Injection) Imaging tumors in adults with known hepatocellular carcinoma (HCC) 04.04.14 Guerbet LLC
Arzerra (Ofatumumab) In combination with Chlorambucil for CLL whom fludarabine-based therapy is considered inappropriate 04.17.14 Glaxo Group Limited c/b/a GSK
Cyramza (Ramucirumab) Advanced gastric cancer or gastro-esophageal junction adenocarcinoma 04.21.14 Eli Lilly
Sylvant (Siltuximab) Castleman’s Disease 04.23.14 Janssen Biotech
Purixan (Mercaptopurine Oral Solution) Acute lymphoblastic leukemia as part of combo regimen 04.28.14 Nova Laboratories Limited
Zykadia (Ceritinib) ALK+ NSCLC 04.29.14 Novartis Pharmaceuticals
Eloctate (antihemophilic factor (recombinant), Fc fusion protein) Hemophilia A 06.06.14 Biogen Idec
Lymphoseek Guiding sentinel lymph node biopsy 06.13.14 Navidea Biopharmaceuticals
Novoseven Rt (coagulation factor VIIa (recombinant)) Bleeding episodes and peri-operative management in adults and children with Glanzmann’s thrombasthenia 07.02.14 Novo Nordisk
Beleodaq (Belinostat) Peripheral T-cell lymphoma (PTCL) 07.03.14 Spectrum Pharmaceuticals
Ruconest (C1-esterase inhibitor (recombinant)) Acute attacks of hereditary angioedema (HAE) 07.16.14 Santarus
Ryanodex Malignant hyperthermia 07.22.14 Eagle Pharmaceuticals
Zydelig (Idelalisib) CLL & Small lymphocytic lymphoma (SLL)/ Follicular B-cell non-Hodgkin lymphoma (FL) 07.23.14/ 07.23.14 Gilead Sciences
Imbruvica (Ibrutinib) CLL with 17p deletion 07.28.14 Pharmacyclics
Myozyme/Lumizyme Pompe Disease 08.01.14 Genzyme
Cerdelga (Eliglustat) Gaucher Disease 08.19.14 Genzyme
Promacta (Eltrombopag) Severe Aplastic Anemia 08.26.14 GSK
Keytruda (Pembrolizumab) Metastatic Melanoma if BRAF V600 mutation + 09.04.14 Merck
Humira (Adalimumab) Crohn’s Disease 09.23.14 AbbVie
Relistor (Methylnaltrexone) Opioid-induced constipation (OIC) 09.29.14 Progenics Pharmaceuticals
Humira (Adalimumab) Juvenile idiopathic arthritis 09.30.14 AbbVie


Please Note: “Interferon” courtesy of Linda Bartlett (Photographer) from the National Cancer Institute (NCI). [Public domain in the US].

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

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.


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