Trade Group Study: Hundreds of Rare Disease Drugs in Development

According to a new report released last month by the trade group Pharmaceutical Research and Manufacturers of America (PhRMA), the biopharmaceutical pipeline is innovative and robust, with a high percentage of potential first-in-class medicines (meaning a new treatment where nothing currently exists) targeting diseases with limited treatment options. In addition to identifying medicines in development for conditions and diseases such as septic shock, ovarian cancer, sickle cell disease, and Lou Gehrig’s disease (amyotrophic lateral sclerosis), which haven’t had any new product approvals in the last ten years, the report offers positive news for the rare disease community: one third of the products currently in clinical development have a rare disease designation by the U.S. Food and Drug Administration (FDA).

PhRMA

New ALS Model is Based on Human Cells from Autopsied Tissue

By isolating cells from patients’ spinal tissue within a few days after death, researchers funded by the National Institutes of Health have developed a new model of the paralyzing disease amyotrophic lateral sclerosis (ALS). They found that during the disease, cells called astrocytes become toxic to nerve cells — a result previously found in animal models but not in humans. The new model could be used to investigate many more questions about ALS, also known as Lou Gehrig’s disease.

Neurons

Biomarker Bulletin: February 7, 2011

Biomarker Bulletin is an occasionally recurring update of news focused on biomarkers aggregated at BiomarkerCommons.org. Biomarkers are physical, functional or biochemical indicators of normal physiological or disease processes. The individualization of disease management — personalized medicine — is dependent on developing biomarkers that promote specific clinical domains, including early detection, risk, diagnosis, prognosis and predicted response to therapy.

Biomarker Commons
  • Prize4Life Awards $1 Million Prize for Discovery of ALS Biomarker

    Prize4Life, a non-profit organization dedicated to accelerating the discovery of a cure for Amyotrophic Lateral Sclerosis (ALS) by offering incentives to drive innovation, today announced that Dr. Seward Rutkove, Chief of the Division of Neuromuscular Disease at Beth Israel Deaconess Medical Center and Associate Professor of Neurology at Harvard Medical School, has received the $1 million dollar Prize4Life award for the discovery of a new ALS biomarker.

  • Rosetta Genomics Signs Agreements to Advance Development of Body Fluids-Based Diagnostic Tests

    Rosetta Genomics has announced that it has signed two new agreements for the development and validation of microRNA-based diagnostics for various indications related to its Gen 3 products. Rosetta Genomics Gen 3 tests focus on cardiovascular indications, neurodegenerative diseases, women’s health and early detection of certain cancers, and are designed to leverage microRNA biomarkers extracted from body fluids.

  • Genomic Health Announces Results of Biomarker Discovery Program Using Next-Generation Sequencing

    Last week, Genomic Health, Inc. announced that its scientists had successfully used Illumina next-generation sequencing technology to survey expression of the whole human transcriptome and test hypotheses for biomarker discovery in archived tumor and normal breast tissue samples.

  • Spinal Muscular Atrophy Foundation and Rules-Based Medicine Collaborate on SMA Biomarker Panel

    The Spinal Muscular Atrophy (SMA) Foundation and Rules-based Medicine (RBM) have reached the first milestone in a program to develop a panel of plasma protein biomarkers for SMA using RBM’s Multi-Analyte Profiling (MAP) technology platform.

  • Computable Genomix Secures Investment for the Development of Genetic Biomarker Tests

    Memphis-based Computable Genomix announced this week that it has secured an investment from venture capital firm Innova Memphis to pilot a novel process for developing genetic biomarker tests. Leveraging its next-generation computational discovery capability, the company is developing highly targeted genetic biomarker tests for clinical researchers.

Sharing Genes on the Social Web: PatientsLikeMe ALS Genetics Search Engine

This article was written by Hope Leman.

This is the kind of story that gets me out of bed before I go to work in a few hours at our small medical library and to try to get the news out of what should be a fascinating development in search, Health 2.0, Science 2.0 and public discussion of patient empowerment and in neurologic science generally. I have been sent through my connections at AltSearchEngines and Next Generation Science a link to the Marketwire press release “PatientsLikeMe Launches Genetics Search Engine for ALS Patients“.

plm-logo

I spent many hours in the amyotrophic lateral sclerosis community of Patients Like Me in 2007 — 2008 and still visit it occasionally. It is a remarkable instance of a close-knit group of people united by the personal tragedy of either having Lou Gehrig’s Disease (ALS) or caring for and/or about someone with it. The founders of Patients Like Me (PLM), Jamie and Ben Heywood, have since created similar online patient communities for Parkinson’s Disease, Multiple Sclerosis and so on.

plm-find-patients

I briefly met Ben Heywood at a recent Health 2.0 conference. Both he and Jamie are frequent speakers at Health 2.0 and Web 2.0-related gatherings and have been the subject of books and documentaries. The documentary So Much So Fast shows the courageous struggle their brother Stephen made against the ravages of ALS. The solidarity and love his family showed in that struggle is one of the most moving films ever made and should be viewed by literally anyone in the health sciences, encompassing as it does the minutiae of confronting ever growing disability and the quest to obtain accurate medical information in the Internet Age. The Heywood brothers have accomplished remarkable things across a variety of fields, notably in prodding the research establish to fast track research in ALS and to engage in far more transparent practices. They and men like Augie Nieto are the kind of people that leave one feeling that individuals can make a difference even in the face of such frightening specters as a diagnosis of ALS.

But I do have my qualms and concerns about some of the PLM initiatives. Even when papers about it appear in the standard medical literature in PubMed, the authors of the papers are usually affiliated in some way with PLM. It would be nice if there were at least a few by neurologists who have no relationship at all to PLM that reported on advances made as a result of the data acquired from the self-reports that PLM members upload to PLM databases.

The search engine is simply called the Genetics Search Engine, although it covers only ALS and thus is likely to create some branding confusion.

The PLM blog post announcing the launch of the new search engine states: “Today, we’re announcing the launch of our Genetics Search Engine for people with ALS. Imagine finding other patients just like you, down to the genetic level. Patients in our ALS community can now do that. (For patients who don’t see their genetic mutation right now, that’s alright. They can be the first with that genetic mutation to join our community and share information about the disease.) What does sharing genetics mean for research? By capturing data on familial ALS patients’ known genetics, such as the A4V or D90A mutations in superoxide dismutase 1 (SOD1) and the P56S mutation in vesicle-associated membrane protein-associated protein B (VAPB), we can learn more about the cause and effects of every kind of ALS and better our chances of advancing research and finding new treatments. Our goal in launching the Genetics Search Engine (and other upgrades like it) is to help patients find others just like them and enhance our understanding of the phenotype of each genetic mutation (i.e., different causes of ALS have faster or slower disease progression).”

This brings up some interesting issues:

  • As noted, there is the matter of branding. The wording “… other upgrades like it” suggests that this is the first of what may become a series of search engines for genetic mutations. That is an intriguing development and illustrates the genuine knack for marketing and technological innovation that has always made PLM a leader in the patient social networking space even as other such communities (such as Trusera) with much less drive to actually contribute to the medical science related to the travails of members have struggled to attract and retain users.

  • The Genetics Search Engine does not appear particularly innovative or interesting vis-a-vis search technology. It seems, indeed, to be fairly unspectacular and rudimentary in that respect. But it is certainly more handsome and engaging than ALSOD: the Amyotrophic Lateral Sclerosis Online Database, which covers only SOD1 mutations and is designed for medical professionals, not patients and the general public.

  • The wording “Imagine finding other patients just like you, down to the genetic level” is quite fascinating. ALS is a rare disorder and now patients can find in that small group an even smaller group and, now, so can researchers. This has all kinds of implications for organizing patients into lobbying groups for research into that particular mutation. That might actually advance research, given that the intense study of one gene or one mutation could benefit the entire ALS population. Alternatively, it could hinder advancement if a vocal group successfully wins earmarks for what turn out to be blind alleys. In any case, it is a brave new world in which people can form political, emotional and social bonds on the basis of genetic mutations. This is a good thing for public education in medical matters and public discussion of important scientific and bioethical matters.

  • The development of the search engine and what becomes of the data is something that all those intrigued by the era of personalized medicine will watch with intense interest. Some argue that such data will prove of limited utility for decades and that it is cruel and deceptive to suggest to patients that hours spent mastering the arcana of genetics will improve their short-term prospects and day-to-day quality of life. Indeed, part of the marketing muddle is that the press release does not make the distinction clear between familial ALS and the sporadic type, the former being much rarer. Jamie Heywood is quoted as saying:

    Beyond the research implications of what this means today, if you’re a patient with familial ALS, you can now use this information to make better decisions about your healthcare and learn from the experiences of others like you.

    But that group is a small subset of the greater ALS patient population as a whole and the press release makes it sound like the Genetics Search Engine is a potential boon for all ALS patients. It could be, but that isn’t made clear.

But one should not complain too much given the obvious solace and genuine enjoyment members find in PLM and the impressive amount of useful information exchanged there on matters of nutrition, respiratory care, assistive technology and such, necessary in the care of patients with this illness. The fact that PLM has 3,400 members worldwide alone is impressive given that there only an estimated 30,000 people with the disease in the U.S. in any given year.

It will be interesting to see what public comment discussion is engendered by this development vis-a-vis patient education and genomics, and the ethical and health information management issues raised by patients taking an ever more intense interest in the building blocks of their very beings and expecting frontline clinicians to treat them by utilizing such data.

This not just an ALS story. This is a new era in medicine.

About the author: Hope Leman writes about Health 2.0 and the e-patient movement at Significant Science. She is also a writer for AltSearchEngines, which covers hundreds of alternative / niche search engines. Hope is a research information technologist for a health network in Oregon and is also Web administrator of the grants and scholarship listing service ScanGrants.