Last update 09:04:12 AM EST

Back News

Medical News

Raise and Join Your Hands in Support of Rare Disease Day 2015

Rare Disease Day 2015

February 28, 2015 marks the eighth international Rare Disease Day, coordinated by EURORDIS, aiming to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.

The Rare Disease Day campaign, which takes place on the last day of February each year, puts rare diseases in the spotlight and brings people and patient organizations together to form a unified voice to advocate for the treatments, care, resources and services needed for patients with rare diseases.

A rare disease, also referred to as an orphan disease, is any disorder affecting a small percentage of the population. In Europe, a rare disease or disorder is defined as one affecting fewer than one in 2000 people; in the US, it is defined as one that affects fewer than 200,00 Americans at any given time. Over 6,000 rare diseases exist and are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease, but also from patient to patient suffering from the same disease.

Since many rare diseases have common symptoms, many patients are misdiagnosed, resulting in delayed treatment. A lack of existing scientific knowledge and quality information on rare diseases also often lead to misdiagnosis and delayed treatment. Additionally, several patients have difficulty in accessing treatment and care, resulting in social and financial burdens.

Although many challenges exist for patients and families of rare diseases, significant progress is being made every day. Important gains continue to be made with the increase of international cooperation in clinical and scientific research, as well as the sharing of scientific knowledge about all rare diseases. These advances have led to the development of new diagnostic and therapeutic procedures.

Thousands of patient groups and others worldwide are preparing events to raise awareness for rare diseases and the millions affected by them.

In honor of Rare Disease Day, show your solidarity with rare disease patients by raising and joining hands!

For more information on events in your area or how you can get involved visit:


Last updated: 2/27/15; 1:05pm EST

Amgen's AMG 416 Demonstrates Positive Results in its Late-Stage, Head-to-Head Study with Sensipar


Amgen’s investigational AMG 416 succeeded in its final late-stage study for secondary hyperparathyroidism in patients with chronic kidney disease.

The company announced results from the head-to-head Phase III study comparing AMG 416 with its in-house rival Sensipar (cinacalcet) for the treatment of secondary hyperparathyroidism (SHPT) in patients with chronic kidney disease (CDK) receiving hemodialysis. According to the company, the study met its primary endpoint of non-inferiority, measured as the achievement of greater than 30 percent reduction from baseline in mean pre-dialysis serum intact parathyroid hormone (PTH) levels during the Efficacy Assessment Phase (EAP), defined as the period between weeks 20 and 27.

Additionally, AMG 416 was statistically significantly superior to Sensipar in the secondary endpoints of the proportion of patients achieving greater than 50 percent and greater than 30 percent PTH reduction from baseline during EAP. The company said that there was no difference between the treatment arms in the mean number of days of vomiting or nausea per week in the first eight weeks, another secondary endpoint.

“These findings, combined with results from two positive placebo-controlled studies of more than 1,000 patients, add to the growing body of evidence that reinforce the promise of AMG 416 for hemodialysis patients with secondary hyperparathyroidism,” said Sean E. Harper, MD, executive vice president of Research and Development at Amgen. “The management of this disease in patients with chronic kidney disease is a complex process, and at Amgen, we are committed to building upon our leadership in nephrology to provide patients with an innovative therapy that can be administered intravenously along with hemodialysis.”

SHPT is often found in patients undergoing dialysis whose parathyroid glands kick into action as kidney function declines, generating dangerous hormone levels as the body attempts to maintain the proper level of calcium and phosphorus. Amgen acquired rights to AMG 416 through its $315 million acquisition of KAI in July 2012. Amgen already sells Sensipar, an oral drug indicated for SHPT; however the company believes there is a significant new market for an IV formulation that can be delivered during hemodialysis.

The investigational drug did come with side effects. Treatment-emergent events related to cardiac failure were reported in 3 percent of patients who received AMG 416 versus 0.6 percent in the Sensipar group. Additionally, fatal adverse events were reported in 2.7 percent for the AMG 416 group and 1.8 percent for the Sensipar group.

Source: Amgen

Last updated: 2/27/15; 12:15pm EST

Bristol-Myers Squibb's Hep C Drug Helps Cure 97 Percent of Patients Coinfected with HIV


Bristol-Myers Squibb Company (BMS) recently announced that 97 percent of hepatitis C patients also infected with HIV were cured of the liver virus after 12 weeks of treatment with the company’s dacatasvir and Gilead Sciences’ Sovaldi.

Historically, patients with chronic hepatitis C virus (HCV) coinfected with HIV have been challenging to treat, largely due to potential drug-to-drug interactions between the therapy regimens used to treat each infection. Results from the company’s ALLY-2 study could help put BMS’ hepatitis C program back on track in the US.

The mid-stage trial included new patients and those who did not respond to prior treatment. In the trial, 149 of 153 were cured of hepatitis C regardless of what other anti-viral regimens they were on for HIV.

“The results of ALLY-2 signal that nearly all HIV-HCV coinfected patients in the study could be cured of hepatitis C with a 12-week regimen on daclatasvir and sofosbuvir,” said David Wyles, MD, ALLY-2 Lead Investigator and Associate Professor of Medicine in the Department of Medicine, Division of Infectious Diseases at the University of California San Diego. “The trial demonstrated the dosing flexibility afforded by the daclatasvir-sofosbuvir regimen did not require alteration of HIV medications because of potential drug-drug interactions. This is a paramount consideration for clinicians treating this patient population.”

Roughly 300,000 Americans with HIV also suffer from HCV, making them prone to more rapid progression to liver failure, according to the CDC.

“While substantial strides have been made in the battle against hepatitis C, a significant number of patients with complicated disease and treatment histories need additional treatment options to help them achieve hepatitis C cure,” said Douglas Manion, MD, head of Specialty Development, Bristol-Myers Squibb. “The ALLY-2 results show that daclatasvir paired with sofosbuvir produced high cure rates in this trial regardless of the coinfected patients’ HCV genotype.”

Source: Bristol-Myers Squibb Company

Last updated: 2/27/15; 11:00am EST


Rosetta Genomics Advances Development of its Differentiated Thyroid Cancer Assay

Rosetta Genomics

Molecular diagnostics company, Rosetta Genomics Ltd., announced that its novel assay for differential diagnosis of thyroid neoplasia is on track for launch by the end of the third quarter of 2015.

The company provided an update on the development of its microRNA-based assay for the differential diagnosis of thyroid neoplasia, which has the potential to improve clinical management in a cost-effective way by reducing the number of unnecessary surgeries.

According to Rosetta Genomics, an estimated 4-7 percent of the general population develops nodules in the thyroid, which can be felt upon examination, however fewer than ten percent are malignant. Currently, the standard technique for detecting cancer is to obtain tissue from the thyroid nodule for analysis with a Fine Needle Aspirate (FNA). It is estimated that each year nearly 500,000 FNAs are performed in the US and approximately 740,000 are performed in Europe. Interpreting FNA samples is not always straightforward. Up to 30 percent of the samples are deemed indeterminate. Among those with indeterminate results, approximately 75 percent undergo surgery, despite the fact that less than 50 percent of these tumors are malignant. This exposes patients to unnecessary risks and costs associated with surgery.

For the past two years, Rosetta Genomics has been developing this assay and has conducted multiple discovery studies, with more than 500 thyroid FNA and surgical samples, representing various histological subtypes. The company analyzed the samples utilizing its proprietary microarray and qPCR platforms, and a subset of the samples were also analyzed by deep sequencing. This approach led to the discovery of new microRNA biomarkers and allows the profiling of small cytological samples to ensure low failure rates.

In these studies, several microRNAs differentially expressed between benign and malignant tumors, as well as microRNA biomarkers of medullary thyroid carcinoma, one of the deadliest forms of thyroid cancer, were identified. These studies also showed the ability to extract and profile microRNAs from thyroid FNAs in various sample types, and in a manner that is consistent with common clinical practices. Rosetta is now conducting training studies and will soon start blinded validation studies at several leading medical centers where the company already has ready-to-test samples.

“We are very pleased with the progress we’ve made in advancing the development of our thyroid cancer assay. Upon commercialization we believe our thyroid assay will be competitive with current testing methods as we expect it to have the best combination of Negative Predictive Values and Positive Predictive Values, our turnaround time is expected to be less than half that of the market leaders and our process will spare patients unnecessary needle passages. Our specimen collection process is a competitive differentiator because it can utilize the smear used by the cytologist as part of their standard process rather than taking additional FNAs and preserving them in specialized tubes. The latter process of taking additional FNAs through another needle passage into the patient’s neck is required by some currently marketed thyroid tests, also creates the potential for misdiagnosis,” said Kenneth A. Berlin, President and Chief Executive Officer of Rosetta Genomics.

The test brings an innovative new way to help patients and physicians deal with indeterminate results in thyroid nodules utilizing microRNAs. The company expects to complete their training and validation studies soon, and remain on track to launch the assay by the end of the third quarter of 2015.

“With nearly 30% of FNAs yielding indeterminate results, the annual opportunity in the U.S. alone exceeds $350 million and currently available tests in this space generated approximately $50 million in revenues in 2014. We are looking forward to launching our novel and differentiated assay into this fast converting market,” said Berlin.

Source: Rosetta Genomics

Last updated: 2/26/15; 4:00pm EST 

FDA Postpones Advisory Meeting on Biosimilar Copy of Remicade


The US Food and Drug Administration (FDA) has postponed an advisory committee meeting to consider approval of Hospira and partner Celltrion’s biosimilar of Remicade.

The agency said that it wants more time to review the Biologics License Application (BLA) for CT-P13, a proposed biosimilar to Janssen Biotech Inc.’s Remicade (infliximab), submitted by Celltrion, Inc. The FDA’s Arthritis Advisory Committee was originally scheduled to meet on March 17, 2015 to discuss the biosimilar’s use in patients with Crohn’s disease, ulcerative colitis, rheumatoid arthritis, ankylosing spondylitis, psoriatic arthritis, and plaque psoriasis.

The agency said that the reason the meeting is being postponed is “due to information requests pending with the sponsor of the application.”

Celltrion and Hospira have filed for approval of Remsima in the US as a biosimilar version of Janssen’s Remicade, which brings in roughly $8.4 billion annually worldwide. Biosimilar versions of the drug have already been launched in other markets. This week, the companies launched biosimilar versions of Remicade in 12 major European markets.  

The advisory panel hearing is a major milestone in advancing new drugs. A positive recommendation would pave the way for the FDA to approve the drug, allowing the companies to start marketing Remsima in the US. The FDA did not say when the committee will meet, but said that a future meeting date will be announced in the Federal Register.

Biosimilars have yet to enter the US market, however several companies are developing cheaper versions of biologic drugs. The FDA is expected to make a decision on whether to approve Novartis’ biosimilar version of Amgen’s blockbuster Neupogen. Additionally, Sandoz is working on copycats of Humira, Enbrel, Rituxan and Procrit. Apotex also has a version of Amgen’s Neupogen under review.

Additionally, Pfizer agreed to buy Hospira for about $15 billion, gaining access to its pipeline of biosimilars.

Source: US Food and Drug Administration

Last updated: 2/26/15; 2:55pm EST

RSS Feed