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Newborn Screening: Public Views on Participation


Dr. Yvonne Bombard, genomics and health services researcher in the Li Ka Shing Knowledge Institute of St. Michael’s Hospital and an assistant professor at the University of Toronto, publishes in the February 2014 issue of the journal, European Journal of Human Genetics, an article that explores the public opinion in Canada on participating in Newborn Screening (NBS).

Dr. Bombard and other researchers used an online public survey of Canadian residents recruited through an Internet panel, to see what the public opinion would be on the use of Whole-Genome or Exome Sequencing (WG/ES) in NBS. What is public opinion on adding WG/ES to NBS ? What would parents think if their newborn’s complete DNA sequence of their genome is integrated into NBS ? Are there concerns “regarding the generation of incidental information on millions of infants annually” ? Would fewer parents consent to NBS because of the addition of WG/ES to NBS ?

Here are the results of the survey:

•   94% are willing to participate in NBS using existing technologies to screen for specific genetic conditions

•   80% are willing to participate in NBS that sequences their newborns’ genomes for any and all forms of disease

•   48% thought it is the responsibility of the parent to participate in NBS programs using existing technologies

•   30% thought it is the responsibility of the parent to participate in NBS programs for whole genome sequencing.

The authors of the journal article concluded that :

“ ….. integrating WG/ES into NBS might reduce participation, and challenge the moral authority that NBS programs rely upon to ensure population benefits. These findings point to the need for caution in the untargeted use of WG/ES in public health contexts.”


Bombard Y., Miller F.A., et al. Public views on participating in newborn screening using genome sequencingEuropean Journal of Human Genetics. 2014 Feb 19. doi:10.1038/ejhg.2014.22.

Please Note: “Tiny foot” By Pawel Loj , Let Grow Therapy and Counseling - Helping Children To Thrive (Atlanta, GA, USA) [CC-BY-2.0]  | via Wikimedia Commons.

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

Orphan Drugs: Eli Lilly Receives FDA Approval

FDA logo

Eli Lilly and Company announces on April 21st, that the FDA approves orphan drug Cyramza (Ramucirumab) injection as a single-agent treatment for patients with advanced or metastatic gastric cancer or Gastroesophageal Junction (GEJ) adenocarcinoma with disease progression on or after prior Fluoropyrimidine- or platinum-containing chemotherapy.

FDA Orphan Drug Designation Database Record

Generic Name: Ramucirumab
Trade Name: Cyramza
Date Designated: 02-16-2012
Orphan Designation: Treatment of gastric cancer
Orphan Designation Status: Designated/Approved
FDA Orphan Approval Status: Approved for Orphan Indication
Approved Labeled Indication: Treatment of advanced gastric cancer or gastro-esophageal junction adenocarcinoma, as a single-agent after prior fluoropyrimidine-or platinum-containing therapy.
Marketing Approval Date: 04-21-2014
Exclusivity End Date: N\A
Sponsor: ImClone Systems LLC 33 ImClone Drive ImClone is a subsidiary of Eli Lilly Branchburg, NJ 08876 The sponsor address listed is the last reported by the sponsor to OOPD.


Cyramza is the first FDA approved treatment for patients with this indication. Eli Lilly acquired Cyramza from ImClone Systems in 2008, with the drug receiving FDA Orphan Drug Designation (ODD) in February 2012. The approval of Cyramza comes with a Boxed Warning regarding an increase risk of hemorrhage. The company plans on making the drug available in the coming weeks.

The approval of Cyramza is based on the Phase III REGARD clinical trial – a multicenter, randomized, placebo-controlled, double-blind trial with 355 patients. The trial showed an increased median overall survival by 37% (median overall survival of 5.2 months vs. 3.8 months for placebo, P=0.047). Also, Cyramza greatly improved Progression-Free Survival (PFS), demonstrating a 62% increase in median PFS (2.1 months vs. 1.3 months for placebo, P<0.001).

Gastric Cancer Statistics

•   5th most common cancer in the world

•   3rd leading cause of cancer death

•   In 2012, there were approximately 1 million new cases worldwide, with 66% for men and 34% for women.


Eli Lilly and Company Press Release

FDA News Release.

Please Note: FDA Official Logo from FDA website.

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

Social Media And Patients: Pharma’s Use In Clinical Research


This is the third Blog Post in a series that examines the use of different social media channels by pharmaceutical companies and patients.

With the increase in pharmaceutical companies developing orphan drugs for rare diseases, there is a need for tools for biotechnology companies, rare disease patients, and healthcare professionals to provide the capability to find clinical trials appropriate for their disease, geographic location, and other important factors. In clinical trials for rare diseases, the sample size is usually small, requiring innovative approaches to optimize the study design and data analysis, and is also a challenge for recruiting patients. This is an important use of social media tools – the use by pharmaceutical companies to engage the rare disease community to help recruit and find patients for clinical research.

The Tufts Center for the Study of Drug Development (CSDD) is an independent academic non-profit research group at Tufts University in Boston, Massachusetts. The mission of the Tufts CSDD :

“ is to develop strategic information to help drug developers, regulators, and policy makers improve the quality and efficiency of pharmaceutical and biopharmaceutical development, review, and utilization.”

One of Tufts CSDD products is the bi-monthly Impact Reports, that summarize current original research from the organization in an easy compact format. This series of reports analyzes data and provides information on current drug regulatory and development issues.

The latest Impact Issue is the March/April 2014 issue titled, “Drug sponsors tread cautiously using social media to aid clinical research”. The Summary Report is available for FREE. What the CSDD Impact Report concludes is that drug developers are proceeding slowly and cautiously with the use of social media for engaging patient communities. Here are a few findings from the Summary Report about the use of social media tools by pharmaceutical companies for engaging patients :

•   Drug developers are concerned with violating patient privacy and confidentiality

•   Drug developers use social media mainly to distribute information and to “listen to patient and professional conversations” (social listening) to gain insight into the patient community

•   Only 20% of drug companies that use social media directly interacts with patients

•   Most drug companies contract out or outsource engagement with patients to a third party or uses more conservative approaches for patient engagement (i.e. banner ads on social media sites)

•   Social media is only being used to recruit patients in 11% of all clinical trials.

According to a January 2014 Report, “Engaging patients through social media – Is healthcare ready for empowered and digitally demanding patients ?”, from the IMS Institute for Healthcare Informatics, pharmaceutical companies should and need to make better use of social media tools to engage patients. According to this report, almost 50% of the top 50 pharmaceutical companies worldwide use social media tools like Twitter, Facebook, or YouTube. But only 20% of these companies use all three of these social networking tools. Other findings from the report:

•   Regulatory agencies, such as the FDA, are active in social media

•   Wikipedia is the single leading source of medical information for patients and healthcare professionals, with rare diseases showing a “higher frequency of visits than many more common diseases”.

Please Note: “Network Learner” courtesy of The Gold Guys Blog [CC-BY-SA-2.0], via Wikimedia Commons.

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

FDA Breakthrough Therapy Designation: Fifth Drug Receives FDA Approval

DNA Purification

The FDA approves on April 17th, GlaxoSmithKline’s orphan drug Arzerra (Ofatumumab injection for intravenous infusion), the 5th drug to have the coveted Breakthrough Therapy Designation (BTD). A Supplemental Biologic License Application (sBLA) for Arzerra receives approval for use in combination with Chlorambucil, for the treatment of previously untreated patients with Chronic Lymphocytic Leukemia (CLL), for whom fludarabine-based therapy is considered inappropriate. The BTD is for the same indication.

Arzerra is currently marketed in the United States and is granted FDA Accelerated approval in 2009 for CLL refractory to Fludarabine and Alemtuzumab (Campath). As a condition of the 2009 approval, GlaxoSmithKline is required to have further studies. Per the FDA, the trial used for the basis of the April 17th approval fulfilled that 2009 postmarketing requirement, and accelerated approval is converted to regular approval :

FDA Orphan Drug Database Record
Generic Name: Ofatumumab
Trade Name: Arzerra
Date Designated: 03-10-2009
Orphan Designation: Treatment of chronic lymphocytic leukemia
Orphan Designation Status: Designated/Approved
FDA Orphan Approval Status: Approved for Orphan Indication
Approved Labeled Indication: Treatment of chronic lymphocytic leukemia (CLL) refractory to alemtuzumab and fludarabine
Marketing Approval Date: 10-26-2009
Exclusivity End Date: 10-26-2016
Approved Labeled Indication: Ofatumumab in combination with chlorambucil, for the treatment of previously untreated patients with chronic lymphocytic leukemia (CLL) for whom fludarabine-based therapy is considered inappropriate.
Marketing Approval Date: 04-17-2014
Exclusivity End Date: N\A
Sponsor: GlaxoSmithKline One Franklin Plaza Philadelphia, PA 19101 The sponsor address listed is the last reported by the sponsor to OOPD.


Of the 5 BTD approvals, 3 are for the CLL indication:

Row Num Drug Name FDA Approval Date Sponsor Company Indication
1 Gazyva   (Obinutuzumab) 11.01.13 Genentech Chronic Lymphocytic Leukemia (CLL)
2 Imbruvica   (Ibrutinib) 02.12.14 Pharmacyclics Chronic Lymphocytic Leukemia (CLL)
3 Ofatumumab (Arzerra) 04.17.14 GlaxoSmithKline In combination with Chlorambucil for previously untreated Patients with CLL for whom fludarabine-based therapy is considered inappropriate



FDA BTD Approval Chart

FDA BTD Statistics Chart.

Please Note: “DNA Purification” Courtesy of Dr. Bruce Chassey Laboratory. National Institute Of Dental Research. Li-shan. NCI [Public domain in the US].

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

Orphan Drugs And Rare Diseases: The Heroes Wall


At next week’s World Orphan Drug Congress (WODC) USA, in Washington D.C., one will find the Heroes Wall. The WODC USA has asked advocacy groups and rare disease patients who inspires them. Photos of 30 nominated Heroes of this community and why they are considered heroes, will be displayed at the Heroes Wall. The Heroes Wall will be located in the patient zone, in the exhibition area at the conference.

For an advance look at some of the nominated Heroes, please go to the website.

You may also be interested in participating at the WODC USA, April 23-25, 2014, in Washington DC. WODC USA is where industry, government, and payers come to develop new strategies and partnerships to advance orphan drug development and patient access.

The Orphan Druganaut Blog is a Media Partner of the WODC USA.  We will be attending and look forward to meeting everyone in the orphan drug and rare disease communities. See you there!

Please Note: LuMaxArt Computer Workgroup Concept courtesy of The Gold Guys Blog [CC-BY-SA 2.0] | Wikimedia Commons..

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

Orphan Drugs: 2013 By The Numbers


Two recent 2013 drug trend reports are trending on the Internet. This Blog Post discusses both reports and the 2013 trends in orphan and specialty drugs.

A March Blog Post presents the Medical Marketing & Media (MM&M) article that discusses orphan and specialty drugs and what the future holds for this category of drugs in the United States. Per the article, as orphan and specialty drugs increase over the next few years along with drug prices for these medicines, insurers will need to find a way of minimizing the expense to both patients and to themselves. Also at issue, is the increase in the difficulty of obtaining these medicines for the patient.

Some interesting statistics gathered from the MM&M article:

•   Specialty drugs are the fastest-growing segment of healthcare expenses

•   Specialty drugs are growing at an annual rate of 15% – 20%

•   In 2020, specialty drugs are expected to be 40% of total drug costs

•   In the United States, specialty drug spending is estimated to increase 67% by the end of 2015, while non-specialty drug spending is estimated to decrease 4%.

I – Express Scripts Report

Express Scripts, headquartered in Missouri, is one of the largest Pharmacy Benefit Management (PBM) organizations in the United States. The company provides PBM services such as:

•   Network-pharmacy claims processing

•   Home delivery pharmacy services

•   Specialty PBM

•   Drug formulary management

•   Drug and medical data analysis to manage PBMs for health plans.

Express Scripts publishes annually since 1997, The Drug Trend Report, which provides the “healthcare industry’s most detailed analysis of prescription drug costs and utilization”. The “2013 Drug Trend Report Highlights” is published just this month. The definition and distinction between specialty and orphan drugs is important. In the United States, an orphan drug is defined by the FDA as a drug developed for “a rare disease affecting fewer than 200,000 people”. An orphan drug can be a specialty drug, with specialty drugs focusing “on delivery rather than target.” Specialty drugs usually have complicated usage requirements (i.e. injectable). Specialty drugs often treat chronic conditions such as cancer, hemophilia, and HIV.

Here are a few observations for the drug trends for specialty drugs in 2013 from the report:

•   Drug trends for traditional drugs increase 2.4%, while for specialty drugs there was a 14.1% increase (lowest rate since 2007)

•   Specialty drug spending is 27.7% of total pharmacy benefit spending, up from 24.4% in 2012

•   Specialty drug spending for the top 4 conditions (inflammatory conditions, cancer, multiple sclerosis, and HIV) is 72% of total per-member, per-year (PMPY) spend. Traditional drug spending on the other hand for the top 4 conditions (diabetes, high blood cholesterol, high blood pressure/heart disease, and ulcer disease) is only 34% of total PMPY spend

•   Specialty drug spend is forecast to grow an additional 63%, 2014 – 2016, due to the increase in Hepatitis C (HCV) – note to the reader to keep an eye on the competitive HCV market with 6 FDA Breakthrough Therapy Designations having this indication.

II – IMS Institute For Healthcare Informatics Report

IMS Institute for Healthcare Informatics publishes on April 15th the “Medicine use and shifting costs of healthcare” report. The report reviews in detail the use of drugs in the United States in 2013.

Here are a few observations for the drug trends for orphan drugs in 2013 from the report:

•   Out of 36 New Molecular Entities (NMEs) launched, 17 or approximately 42% are orphan drugs – the most in any year since the Orphan Drug Act is enacted in 1983 & more than double the # launched in 2012

•   In last 5 years, 53 orphan drugs are launched

•   Launches are strengthened by a high # of orphan approvals and increase in applications and approvals for products seeking the Breakthrough Therapy Designation – “signifying a shift towards expediting the availability of drugs to patients in critical need”.

Please Note: “3D Bar Graph Meeting” by “The Gold Guys Blog” [CC-BY-SA-2.0] via Wikimedia Commons.

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

Europe’s April 2014 Products Recommended For Orphan Drug Designation


The European Medicines Agency’s (EMA) Committee for Orphan Medicinal Products (COMP) held a meeting April 8 – 9, 2014. The EMA COMP April 2014 Meeting Report on the review of applications for orphan designation is published April 14.

At this meeting, there are 12 positive opinions recommending the following medicines for designation as orphan medicinal products. COMP’s opinions are then 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 :

 Product Name Sponsor Company Indication
(5R,5aR,8aR,9S)-9-[[4,6-O-[(R)-Ethylidene]-β-D-glucopyranosyl]-oxy]-5-(4-({[(2,2-dimethyl-1,3-dioxolan-4-yl)methoxy]carbonyl}oxy)-3,5-dimethoxyphenyl)-5,8,8a,9-tetrahydroisobenzofuro[5,6-f][1,3]benzodioxol-6(5aH)-one CellAct Pharma GmbH Biliary Tract Cancer
177Lu-tetraxetan-tetulomab Nordic Nanovector AS Follicular Lymphoma
Lutetium (177Lu) edotreotide ITG Isotope Technologies Garching GmbH Gastro-entero-pancreatic neuroendocrine tumors
Recombinant human alpha 1 chain homotrimer of type VII collagen Shire Pharmaceuticals (Ireland) Epidermolysis Bullosa
4-(4-Methoxy-phenylamino)-6-methylcarbamyl-quinoline-3-carboxylic acid Clanotech AB Prevention of scarring in post glaucoma filtration surgery
Adeno-associated viral vector serotype 2 containing the human CHM gene encoding human Rab escort protein 1 Alan Boyd Consultants Ltd Choroideraemia
Aganirsen Gene Signal SAS Central retinal vein occlusion
Autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH gene Cochamo Systems Ltd Mucopolysaccharidosis IIIA (Sanfilippo A syndrome) 
Autologous dendritic cells pulsed with RNA from glioma stem cells Epitarget AS Glioma
Isavuconazonium sulfate Astellas Pharma Europe Mucormycosis 
Paclitaxel-succinate-Arg-Arg-Leu-Ser-Tyr-Ser-Arg-Arg-Arg-Phe CLL Pharma Glioma
Plasmid DNA encoding the human cystic fibrosis transmembrane conductance regulator gene complexed with a non-viral,cationic lipid based gene transfer agent Imperial Innovations Limited Cystic Fibrosis


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.


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