Archive for the ‘Rare disease’ Category

Required Reading: July 2014

August 1, 2014

Great stories are published daily about the impact personalized medicine is having on individual patients, and the medical community as a whole, but it can be a challenge to stay on top of the news. With that in mind, we bring to you a monthly roundup of the three to five most thought-provoking articles we are reading, sharing and discussing with our colleagues.

This is the July 2014 installment of Required Reading.

Nobody is Average but What to Do About It? The Challenge of Individualized Disease Prevention Based on Genomics by Muin J. Khoury, CDC Genomics and Health Impact Blog

When it comes to individual health risks, there is no such thing as average, yet most health guidelines and recommendations are tailored to “average” individuals in the population. This blog post by Muin J. Khoury, director of the Office of Public Health Genomics at the Centers for Disease Control and Prevention highlights some of the challenges to actualizing the concept of individualized disease prevention and best utilizing each individual’s biological uniqueness.

The Emotional Side of Personalized Medicine by Ide Mills, Genome

For more than 30 years, Ide Mills worked as an oncology social worker, health educator, and communication strategist. Now as a woman living with advanced, ALK-positive non-small cell lung cancer, Mills tells Genome magazine about her experience transitioning from intravenous chemotherapy to a twice-daily pill regimen to help treat her disease. Her story details the challenges – and improvements – she experienced adjusting to the concept of oral cancer therapy and taking an active role in her healthcare.

23andMe Co-founder Anne Wojcicki’s Washington Charm Offensive by Ariana Eunjung Cha, The Washington Post

When she founded genetic company 23andMe more than six years ago, Anne Wojcicki’s ultimate goal was for people to be in control of their own healthcare. Wojcicki is still determined to change the way traditional healthcare works in the United States by shifting the focus to individuals instead of institutions. 23andMe is currently working with the U.S. Food and Drug Administration to get approval for its direct-to-consumer personal health reports that analyze an individual’s DNA.

As Sequencing Moves into Clinical Use, Insurers Balk by Julie Steenhuysen, Reuters 

A number of major insurers are beginning to address the increasing availability and usage of gene-sequencing tests by seeking proof that the results will lead to meaningful treatments among the estimated 2 million Americans with a serious, undiagnosed disease. Genetic experts have responded saying that gene-sequencing tests, such as exome sequencing, are bringing hope to families by more than doubling the chances they will get a diagnosis and saving them money by not spending it on multiple tests of a single gene. 

Developing New Tools to Support Regulatory Use of “Next Gen Sequencing” Data by Carolyn A. Wilson, Ph.D., FDAVoice blog

In last month’s Required Reading, we shared an article from The New York Times about next-generation sequencing (NGS). Learn more about the private cloud-based environment called the High-Performance Integrated Virtual Environment (HIVE) that the Center for Biologics Evaluation and Research supported the development of to help prepare the U.S. Food and Drug Administration to review and understand the interpretation and significance of data in regulatory submissions that include NGS. 

Balancing the Need for Guidance, Communications, and Education to Support Innovation in Personalized Medicine Diagnostics

May 13, 2013

Recently, I had the opportunity to moderate a thought-provoking panel at the PMC/BIO Solutions Summit. The summit brought together key stakeholders to discuss solutions to barriers in the development of innovative personalized medicine diagnostics. A big question for those developing potentially game-changing technologies in an increasingly cost conscious environment is the need for “Evidentiary Standards and Data Requirements for Payer Coverage.”

Determining the data requirements for coverage is becoming an increasingly frustrating issue for diagnostics manufacturers, which face rising demands for evidence but continued lack of clarity about payer standards for evidence-based decision-making, leading many to ask the question, “Why can’t payers just tell us what their standards are?” Complicating the picture is that diagnostics can come to market via different pathways with different levels of supporting evidence (e.g., companion diagnostics reviewed by FDA for clinical validity with the companion therapeutic and tests developed, validated, and introduced to the market by laboratories).

The panelists – who represented leaders from industry, non-profit advocacy, and government working to create solutions for some of these market access barriers – noted a couple of issues at play. One is that having a payer “pick list” or hard criteria for coverage removes the flexibility that is so often needed in these gray-area coverage decisions. The second is that given the volume of products they are evaluating, most payers don’t have the bandwidth to be experts in the nuances of the trial design for every technology. Third is that across all stakeholders, there is a wide range of knowledge on innovative products and personalized medicine and that basic education for the majority of stakeholders to better understand these products is lacking.

Several lessons and next steps came out of this discussion. First, panelists agreed that there must be more education for all stakeholders so that each stakeholder can actually evaluate novel products appropriately, a key finding echoed throughout the day. Second, the emphasis on outcomes must shift from only clinical outcomes to clinical outcomes and quality of life for patients. Finally, all panelists agreed the ideal situation is open, trusting lines of communication and split of the responsibility according to expertise.

At the end of the day, it may be incumbent on the molecular diagnostic community to shape the paradigm for evidence requirements so that payers can act as enablers, rather than watchdogs.

Leveraging Partnerships and Personalized Medicine to Find a Cure

September 1, 2010

The sixth scientific workshop of the Progeria Research Foundation (PRF) earlier this year highlighted many ways that an increased understanding of the genetic underpinnings of Progeria is informing promising new approaches for treating the disease.  A record 140 attendees congregated from 10 different countries to hear expert oral presentations and view poster presentations. Doctors and scientists – who often work in separate worlds, either in the clinic or in the lab – inspired one another as they came together to share new discoveries and directions for future research.  Speakers included leading scientists in the fields of heart disease, aging, genetics and lamins.

Researchers at the workshop had a unique opportunity to meet some of the children who are benefiting from their work.  Children and their parents talked about what it’s like to live with Progeria, and answered questions from the attendees who wanted to better understand how they can continue to conduct beneficial research.  Leslie Gordon, PRF’s medical director, shared Progeria’s journey from obscurity, through gene discovery, on to treatment trials, and presented a vision of where the field is headed in the push towards new treatments and a cure. 

We heard from clinical trial investigators, who shared updates on the progress of their current studies.  We heard from world renowned scientists such as George Martin, Elizabeth Nabel, and Judy Campisi, who addressed the links between normal aging, cardiovascular disease, inflammation and Progeria.  And we got a glimpse into the future from several scientists who are working on cutting edge strategies for future drug development and gene therapy for Progeria.  

Dr. Tom Misteli (NCI) presented a drug development assay which uses genetic strategies to measure chemicals that decrease or eliminate the production of the disease-causing protein, progerin.  His promising studies point us in the direction of new treatments or even a cure for Progeria.

 Dr. Fyodor Urnov looked to the possibility of a genetic cure for Progeria using “genome editing” with zinc finger nucleases.  This method of repairing genetic mutations within cells of the human body is now in the first stages of clinical trials for other diseases, and may be applied to Progeria in the near future.

PRF is proud that Progeria research has made such tremendous progress, moving from bench to bedside in only 10 years.  This would not be possible without the collaborations and innovative partnerships that have been established over the last decade.  From our collaboration and partnerships with NIH (NHGRI, NCI and NHLBI), to pharmaceutical companies like Merck Schering-Plough to first-rate hospitals like Children’s Hospital Boston,  we are moving at lightning speed in the direction of finding a cure.

Audrey Gordon, Esq. is the President and Executive Director of the Progeria Research Foundation

Why Rare Disease Research Matters

June 4, 2010

The Progeria Research Foundation (PRF) was formed 11 years ago to find the cause, treatment, and cure for Progeria.  Progeria is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children.  All children with Progeria die of heart attack or stroke by an average age of 13 years.  In 2003, the genetic mutation that causes Progeria was discovered on the Lamin A gene.

Progeria is one of the rarest known diseases. With a reported incidence of about one in 4-8 million newborns, there are only 65 known children currently living with Progeria worldwide.  When my son Sam was diagnosed 12 years ago, we turned to research and literature for more information.  There was nothing, and so, with my husband, sister, friends, colleagues, and other family members, we formed PRF to help drive research. 

Over the last 10 years, PRF has made significant strides impacting policy (PRF was instrumental in securing language in the Children’s Health Act of 2000 that mandates the National Institutes of Health to report on its plan for supporting children with Progeria); establishing research partnerships (The PRF Genetics Consortium identified the gene that causes Progeria less than 10 months after its formation in 2002); and driving the search for potential treatments and a cure (clinical trials for potential treatments are underway). 

The research over the last several years has helped us uncover a tremendous amount about Progeria and progerin, the protein caused by the genetic mutation.  At the same time, this research may help us better understand heart disease, the number one cause of death in the United States, as well as the process of aging.  As it turns out, we all produce a little bit of progerin, and the amount of progerin in our bodies increases with age.  But how much progerin does each person have and how does it differ among patient sub-populations?  Understanding more about Lamin A and progerin could lead to insights and treatments for patient sub-populations suffering from cardiovascular disease. 

That, to me, is exactly why scientific research in rare diseases is so important.  When we started our research in Progeria, we had no idea that the investigation of a disease that impacts a few children could potentially impact many. 

Now PRF is funding clinical trials and studying multiple treatment possibilities for Progeria, while continuing to examine the similarities between children with Progeria and people experiencing “normal” aging and heart disease.  I look forward to sharing the results of those studies with you in the coming months, and to continuing research that will benefit children with Progeria, as well as other sub-sets of patients. 

Stay tuned to The Age of Personalized Medicine Blog next week for an update from Audrey Gordon, the executive director of PRF, on exciting developments discussed at our recent scientific workshop, and the collaborations that have helped to advance research in Progeria from bench to bedside.

Leslie Gordon is Medical Director of the Progeria Research Foundation

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