CBI Scene Blog

CBI Highlights Rare Disease Day with CureCMT4J

Posted by Lisa Tandy on Feb 28, 2018 9:30:00 AM

In the harsh, overhead light of the ER the ICU doc turned his attention away from my daughter to direct his gaze upon me. Two other doctors flanked him on each side. I felt overmatched. I hadn’t slept for two nights and it was probably now around 3AM of the third night. I looked back at my 12 year-old daughter, Talia, lying semi-reclined, her little body engulfed by the giant hospital bed. A clear, plastic mask covered nearly all of her face, save for her blue-green eyes and honey-colored hair. She was asleep. Finally. Her cheeks pink, her breathing less labored. An aura of purple light surrounded her.  

The flu was raging through her body, making it difficult to breathe or even hold her head up. Already weakened by a rare neuromuscular disease known as CMT4J, the doctors were concerned Talia may need intubation—a tube placed into her windpipe to take over for her breathing. At the very least, she would need time on a bipap machine to help both push air into her lungs and pull it back out again. CMT4J had even stolen her muscles used for breathing.

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Topics: Patient Access, Rare Disease & Orphan Drugs, Rare Disease Day, expanded access, Patient Advocacy

Launching an Orphan Drug: A Case Study by AmerisourceBergen

Posted by Sabrina Delio on Dec 9, 2016 2:31:24 PM


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Topics: Patient Access, Rare Disease & Orphan Drugs, product launch

INFOGRAPHIC: Seizing a Rare Opportunity- A Current Snapshot of the Rare Disease Community

Posted by Logan Fleck on Sep 25, 2014 9:00:00 AM

People living with rare diseases face unique obstacles that stand in the way of their treatment. Because a rare disease affects less than 200,000 Americans, these diseases can go largely unrecognized – even amongst health care providers. Technological developments and the expansion of online communities are helping to raise awareness by providing new opportunities for networking and valuable resources for patients and professionals alike.

Tracking down participants for clinical trials can be difficult and trials often occur far from patients’ homes, but drug developers are beginning to use online sharing and social media to spread the word to target communities. Individuals within these communities are also spreading the word and helping to increase involvement in trials where new treatments are in high demand. Because only about 400 approved treatments exist for rare diseases, there is pressure for new medicines to be produced quickly and most development timelines are condensed. The drugs that meet FDA criteria are released and provide great relief to a small market. However, the shortened timeline can increase the opportunity for error to occur outside of the trial and limits the amount of time for observations to ensure a drug’s maximum efficacy.

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Topics: Commercial & Patient Programs, Patient Access, Patient Assistance, Rare Disease & Orphan Drugs

The Major Barriers of Entry for Therapeutic Discoveries for Rare Disease Conditions

Posted by Natalie R on Sep 24, 2014 11:36:03 AM

Contrary to what its name implies, rare diseases are anything but rare. According to NCATS, 25-30 million people in the United States suffer from rare diseases, which averages out to about 1 in 10 Americans. Worldwide, an estimated 350 million people are living with rare diseases. The terminological disconnect can be explained by the approximately 7,000 different types of rare diseases and orphan disorder—a staggering figure that is growing every day. 

Clearly, there's a high demand for cultivating research and treatments for rare diseases. So what's standing in the way?

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Topics: Commercial & Patient Programs, Patient Access, Patient Assistance, speed to therapy, Rare Disease & Orphan Drugs

5 Initiatives to Advance Research into Rare Disease Therapies

Posted by Linda K on Aug 28, 2014 11:45:00 AM

Rare diseases have traditionally received far less attention from legislators, researchers and pharmaceutical companies than more prevalent health issues. Rare diseases have often been overlooked because of a myraid of reasons including: lack of research on the disease state, difficulty in finding and retaining patients to participate in clinical trials, getting coverage approvals from payers, spreading market awareness about the disroder, and the financial return of such therapies.

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Topics: Commercial & Patient Programs, Patient Access, Patient Assistance, Clinical, Rare Disease & Orphan Drugs

How Genetics Advancements Are Paving Way for Opportunities in Rare Disease Research, Diagnosis & Treatment

Posted by Chelsea A on Jul 29, 2014 11:21:00 AM

Genetics have increased disease control and reduction likelihoods, and this is just the beginning. The lines have been pushed through newborn screening. More than ever, genetic testing has reached new heights.

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Topics: patient adherence, Patient Access, Rare Disease & Orphan Drugs

An Analysis on Effectiveness Evidence in FDA's Approval of Orphan Drugs

Posted by Stephanie V on Jun 20, 2014 2:08:00 PM


The FDA has a commitment to getting products to treat orphan diseases on the market as quickly as possible. Some of the people who have these diseases have no o

ther options for treatment, and a new drug could offer them their only hope of survival.

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Topics: patient adherence, Patient Access, Patient Assistance, Rare Disease & Orphan Drugs

INFOGRAPHIC: Rare Disease Day 2013 by Siren Interactive

Posted by Lisa McCoun on Feb 28, 2013 5:00:00 PM

Over 20 million people in the US are currently afflicted by rare disease. However, since the inception of the Orphan Drug Act in 1983, over 350 drugs have received approval by the FDA to combat these ailments- a significant increase from the 10 passed in the decade before. While this number is impressive, pharmaceutical companies still have a lot of ground to cover.

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Topics: Commercial & Patient Programs, Rare Disease & Orphan Drugs

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