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This Week’s FDA’s Patient-Focused Drug Development (PFDD) Initiative Meetings

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The FDA’s Patient-Focused Drug Development (PFDD) initiative has two meetings scheduled for this week:

•   September 22, 2014 – Hemophilia A, Hemophilia B, von Willebrand Disease, & other Heritable Bleeding Disorders

•   September 26, 2014 – Idiopathic Pulmonary Fibrosis (IPF).

PFDD History

The 5-year PFDD initiative is created with the objective to obtain and better understand a patient’s perspective about their disease and to get patient feedback on treatments. PFDD’s purpose is:

“ … to fulfill FDA’s performance commitments made as part of the fifth authorization of the Prescription Drug User Fee Act (PDUFA V). It provides a more systematic approach for the Agency to obtain patients’ input on specific disease areas, including their perspectives on their condition, its impact on daily life, and available therapies.”

PDUFA V, signed into law in July 2012 as Title I of FDASIA, is for Fiscal Years (FY) 2013 – 2017. It is under Section 10 of PDUFA V, “Enhancing Benefit-Risk Assessment in Regulatory Decision-Making”, that the FDA is required to obtain patients’ perspectives for at least 20 diseases over 5 years, through public meetings.

PFDD is a great way 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. PFDD gives a voice to the patient. PFDD gives a platform to the patient stakeholder to give input on disease areas and the drug development process. PFDD is another forum for patient advocacy to interact with a drug regulatory agency – the FDA.

Please Note: FDA Official Logo from FDA website.

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

Cystic Fibrosis: ProQR Therapeutics IPO


ProQR Therapeutics B.V., a biopharmaceutical company (Leiden, Netherlands) founded in 2012, is developing RNA-based therapeutics for the treatment of genetic disorders. ProQR Therapeutics announces on September 18th the pricing of its Initial Public Offering (IPO) of 7.5 million shares at $13/share, raising approximately $98 million. ProQR Therapeutics plans on listing on the NASDAQ under the symbol “PRQR”.

ProQR Therapeutics’ lead candidate is QR-010, a RNA-based oligonucleotide for the treatment of Cystic Fibrosis (CF). Per the European Medicines Agency’s (EMA) website, QR-010:

“ …. is an ‘anti-sense oligonucleotide’, a very short piece of synthesized RNA (a type of genetic material involved in the production of proteins). This anti-sense RNA specifically attaches to the ‘sense’ RNA with the F508delta mutation which is responsible for the production of the abnormal CFTR protein in cystic fibrosis. As a result, the anti-sense RNA is expected to induce the repair of the genetic RNA abnormality, leading to the production of a fully functional CFTR protein.”

ProQR Therapeutics plans on filing an FDA Investigational New Drug (IND) application by the end of 2014 with a Phase Ib clinical trial to follow.  ProQR Therapeutics is targeting the DF508 CF mutation, which is the most prevalent mutation comprising about 70% of all CF patients.

In September 2013, ProQR Therapeutics receives FDA Orphan Drug Designation (ODD) for QR-010 for CF:

ProQR Therapeutics FDA ODD Database Record

Generic Name: Anti-sense oligonucleotide consisting of 2’0-Me RNA with a phosphorothioate backbone
Trade Name: n/a
Date Designated: 09-23-2013
Orphan Designation: Treatment of cystic fibrosis
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: ProQR Therapeutics B.V. Darwinweg 24, 2333 CR Leiden The Netherlands NETHERLANDS The sponsor address listed is the last reported by the sponsor to OOPD.


The EMA gives QR-010 ODD in October 2013.

In August 2014, Cystic Fibrosis Foundation Therapeutics (CFFT), a subsidiary of the Cystic Fibrosis Foundation (CFF), enters into an agreement with ProQR Therapeutics to provide up to $3 million to support the clinical development of QR-010.

ProQR Therapeutics is also developing QR-110 as a treatment for the rare genetic eye disorder, Leber’s Congenital Amaurosis (LCA). Infants affected by LCA are often blind at birth. LCA is usually inherited as an autosomal recessive genetic condition.

Please Note: “Wall Street & Broadway” by Fletcher6 (Own work) [CC-BY-SA-3.0] | Wikimedia Commons.

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

International Rare Diseases Research Consortium Conference In China




The 2nd International Rare Diseases Research Consortium (IRDiRC) Conference, is scheduled for November 7 – 9, 2014, in Shenzhen, China. The conference, co-organized by the Beijing Genomics Institute (BGI), is gathering global stakeholders active in the field of rare diseases, with the purpose of fostering greater international collaborations involving Chinese researchers and clinicians.

Four parallel tracks are organized over two conference days:

•   Diagnostics

•   Interdisciplinary-Technologies

•   Therapies

•   Education.

An additional training course day is dedicated to the enrichment of knowledge and scientific endeavors in rare disease research.

The conference provides opportunities to network with different rare disease communities from Europe, North and South America, Africa, and Asia-Pacific. It creates the largest stage in the rare disease field and aims to gather around 1,000 participants, including researchers, medical doctors, clinicians, hospitals, pharmaceutical companies, patient organizations, and non-governmental organizations (NGOs) from around the world, supported by more than 40 domestic and international media.


•   Karen Aiach, Founding President/CEO, Lysogene

•   Ségolène Aymé, Coordinator/Emeritus Director of Research, IRDiRC

•   Seng Cheng, Head of R&D, Rare Diseases, Genzyme (Sanofi)

•   Yann Le Cam, CEO, EURORDIS.

A list of additional Speakers is available here.

The IRDiRC program is available here.

To register please access the IRDiRC website.

For more information, please email either in English or in Chinese.

IRDiRC Meeting Logo courtesy of BGI.

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

Rare Diseases And Social Entrepreneurs: A Book

rarediseases book

This is the second Blog Post in a series that presents and reviews books in the rare disease and orphan drug space.

The book, “Rare Diseases: Challenges and Opportunities for Social Entrepreneurs”, is published in 2013 by Greenleaf Publishing. The book looks at the orphan drug development process for rare diseases from both a patient and business perspective. The book is edited by Dr. Nicolas Sireau, Chairman of the AKU (Alkaptonuria) Society. Dr. Sireau, who has two sons with AKU, steps down from a job as a CEO to volunteer for the AKU Society. The mission of the AKU Society is to focus on finding a cure for AKU. The book is available for purchase directly from the publisher.

The book aims to help other:

“ … social and business entrepreneurs … in their mission to treat rare disease patients better and faster. Not only does it include Nick’s experiences, but developments from a further 24 key players in the rare disease movement.”

The AKU Society is a medical charity dedicated to finding a cure for AKU and provides support for patients with AKU. AKU is a rare disease caused by the lack of an enzyme called homogentisic dioxygenase. Patients cannot fully break down a black pigment call homogentisic acid (HGA) which results in large amounts building up in body tissues. This can lead to debilitating health problems. AKU is caused by a genetic mutation, a recessive disorder, where the AKU gene is passed on by both of the patient’s parents. There is currently no cure or treatment for AKU.

Book Cover courtesy of Greenleaf Publishing.

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

EURORDIS: “Living With A Rare Disease” Photo Contest


EURORDIS announces the opening of the EURORDIS Photo Contest 2014 this week. Anyone with an interest in rare diseases can participate. The Photo Contest gives participants a chance “to communicate visually the many diverse facts of living with a rare disease.”  If one is not a photographer, one can participate by voting for one’s favorite photographs.

Three Apple iPad Air Tablets are awarded to each winner in each of the following three categories:

•   EURORDIS Favorite: Chosen by EURORDIS staff

•   Public Vote: The photograph that receives the most votes

•   Expert’s Choice: Selected by Rick Guidotti, professional fashion photographer.

Phote Contest Dates

•   Photograph submissions are accepted from September 17, 2014, 14:00 (CET) – December 16, 2014, 12:00 (CET)

•   Deadline for Expert’s Choice and EURORDIS Favourite: December 12, 2014, 12:00 (CET)

•   Deadline for Public Votes: December 17, 2014, 12:00 (CET)

•   Announcement of Winners: December 17, 2014, 17:00 (CET).

Proceed to the website to enter the Photo Contest.

Please refer to the Photo Contest procedures and terms & conditions for additional information.

Please Note: “Blowing Bubbles at Sunset” by JaneArt (Own work) [CC-BY-SA-3.0 or GFDL] | Wikimedia Commons..

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

Mexico: Top 7 Most Common Rare Diseases


Awareness of rare diseases in Mexico has increased notably by means of the media, internet, and the work of patient advocacy groups that demand healthcare for patients. The definition of a rare disease in Mexico is for less than 5 in every 10,000 individuals.

It’s estimated that about 7 million Mexicans have a rare disease and that only 500 of them have been diagnosed.* This is due to several factors such as lack of knowledge about the disease, misdiagnosis, difficulty in accessing health care, and availability of treatments.

The following are the 7 most common rare diseases in Mexico:

•   Myelofibrosis: Type of cancer in which the bone marrow is replaced by fibrous tissue, leading to spleen dilation, fatigue and pain

•   Cushing Disease: Starts off as a tumor in the pituitary gland and progressively leads to other complications such as diabetes, hypertension, osteoporosis, infections, and kidney failure

•   Tuberous Sclerosis: Genetic disorder characterized by the appearance of benign tumors in the skin, nervous system, kidneys, and heart

•   Acromegaly: Excessive growth hormone secretion which causes overgrowth of feet, hands, nose, tongue, lips and mandible, and engrossed skin

•   Fabry Disease: Genetically inherited disorder in which the lack of alpha-galactosidase results in accumulation of cellular fat known as globotriaosylceramide, that irritates tissues and several organs including kidneys and heart

•   Gaucher’s Disease: Genetic disorder in which the lack of the enzyme glucocerebrosidase results in fat build-up in the cells causing anemia, platelet depletion, loss of bone density, chronic pain, growth retardation, and enlargement of the spleen and kidneys

•   Mucopolysaccharidosis Type 1: Lysosomal storage disorder caused by an enzyme deficiency that affects/destroys all organs in the body. It causes enlarged tongue and arm bones, limited arm mobility, and hernias in the groin and bellybutton area.

Institutions like COFEPRIS (Mexico’s FDA), Seguro Popular, and various patient groups like Proyecto Pide Un Deseo Mexico, and Amigos Metabolicos will talk about collaborations between regulators, pharma, and patient groups to raise awareness of orphan diseases in Mexico.

Join BioPharma Mexico this November 4th and 5th in Mexico City to hear what they have to say.

* Complete article here (in Spanish)

“Rare Disease Day, Mexico” 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: Regeneron Pharmaceuticals And Diabetic Retinopathy


On September 16th, Regeneron Pharmaceuticals, a biopharmaceutical company based in Tarrytown, New York, announces that Eylea (Afibercept) injection receives the coveted FDA Breakthrough Therapy Designation (BTD). The BTD is for Eylea for the treatment of Diabetic Retinopathy in patients with Diabetic Macular Edema (DME). The BTD is based on positive data in two Phase III trials (VIVID-DME and VISTA-DME), where there is a “statistically significant improvement in a pre-specified measure of diabetic retinopathy in patients with DME after 2 years.” Regeneron Pharmaceuticals plans on submitting a sBLA (supplemental Biologics License Application) for this indication by the end of 2014. There is currently no FDA approved treatment for diabetic retinopathy.

Eylea is currently approved in the U.S., European Union (EU), and other countries for the treatment of wet Age-Related Macular Degeneration (AMD), macular edema following Central Retinal Vein Occulsion (CRVO), and DME. In the U.S. and the EU, regulatory submissions have been made for macular edema following Branch Retinal Vein Occulsion (BRVO).

Diabetic retinopathy is a complication of diabetes that results in damaging the eye’s retina, that can lead to poor vision, vision loss, and other vsion problems, such as :

“ … DME, which refers to the swelling of the macula (the part of the retina responsible for central, fine vision) and progression to proliferative diabetic retinopathy, which often results in profound visual loss due to associated complications … DME is the most frequent cause of vision loss in patients with diabetes … ”.

According to an online article, Regeneron Pharmaceuticals reports Eylea net sales for the 1st half of 2014, in the U.S., of $773.8 million compared to $643.7 million for the 1st half of 2013 – approximately 20 % increase.



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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