RARE Project » Bench to Bedside

How A Bill Becomes a Law … It’s Complicated

Dean Suhr — Wed, 29 Feb 2012 11:07:10 +0000

We are often asked why we can’t quickly change the laws related to RARE disease therapy approval. The answer is that not only are politics always involved, it’s that the process is very complicated.

This cartoon depicts what often happens in this process … what is needed seems very clear to us, but what is introduced, hopefully passed, and then implemented can be dramatically different.

Often the reason for many discrepancies is a combination of two things … one’s perspective and the impact of committees of people with vested (political) interests all reconciling their own interests.

If you can remember back to your high school US civics class (the process is similar in many other countries) you will recall that there are three branches of the US government … legislative, executive and judicial. A bill is introduced, refined, and passed in the Legislature, signed or vetoed by the President, and then litigated, if necessary, by the Courts.

Our focus here is on the legislative part of the process. Like an onion, when we peel away the outer layer, the details are much more complicated than we ever learned in civics. This chart (click to enlarge) details the many separate steps a bill goes through in the House and Senate.

The House and Senate work entirely independently and, hopefully in parallel. It’s important that bills begin on both sides the Hill and that they evolve in similar fashions so they can be “reconciled” after their respective approvals before the final bill is sent to the President signature. There is a lot of discussion and negotiation along the way.

The Journey

The bill is introduced and assigned a bill number. This requires draft legislation, and these days, it’s best to have two co-sponsors, one Republican and one Democrat.
The bill is assigned to a committee
A sub-committee takes control of the bill … here we compete with the other bills on that committee’s plate
Hearings are held … usually public, where we can show our support for the bill and explain in more detail the need
The sub-committee suggests it’s changes in a process called Mark-up … here we help to make sure the bill is not so watered down or changed that it loses its focus. The politics of getting to and through mark-up relatively unscathed can be very political.
The full committee has a go at Mark-up … the bill may, at this and subsequent points, be attached to some bigger legislation as a “rider” – so the bill passes and fails based on the bigger legislation.
The Rules Committee … gets their chance at the bill.
The gets put on the Calendar for the full House or Senate to debate the bill.
Finally, the Floor action is taken … debate, discussion, & review. Often amendments to the bill are presented and voted on at this stage as well.
Vote … the bill is put to a vote of the full House or Senate. Hopefully, the bill has arrived at both houses at similar times for vote – but often, since the politics of the two bodies are different, one body is faster than the other. A bill passed on only one side of the Hill cannot proceed until the other side takes action.
Conference Committee … so now there are two usually slightly different versions of the bill passed. This committee reconciles the differences into one final bill which is presented to the President for signature
Presidential Signature … once signed a bill is finally law. But here the president may just as easily veto the bill rejecting it back to the Hill to start all over again. Depending on the legislature this decision can be very political as well.

How We Can Get Involved

The public can, should, and is encouraged to be involved at all point in the process. There are a couple of general themes that are most helpful …

General awareness … support for a bill is often based on the practical content and budget impact of a bill, but equally it is a result of the individual Congressperson’s awareness of the issue the Bill is addressing. It is very important to raise general awareness of issues, like the fact that RARE Disease affects 1 in 10 Americans, well in advance of asking the representative to do anything about it.
Sponsors … finding and engaging the key co-sponsors and then getting other members to “sign-on” gives the bill key credibility and momentum. We recruit “sign-ons through the process.
Hearings … making our voice known succinctly both at the hearings and through written and phone contact keeps the bill moving and shows public support
Calendar/Vote … again, keeping the pressure on for progress and a broad show of support keeps the bill moving hopefully intact.

Every contact from the public is important whether it comes by phone, email, FAX, or in person. Most congresspeople are very sensitive to their voting constituents. And while there are hundreds of millions of voters, a few thousand can have their voices heard very clearly with a powerful impact as indicative of the general public.

The RARE Project is committed to keeping you informed about legislation that affects our community. We hope to educate you on the content of various bill so that you can make up your own mind about the issues being addressed. In partnership with the RDLA, who advocate in a non-partisan fashion on behalf of RARE disease, we also have access to extremly easy to use tools to make our voices heard clearly on the Hill.

written by : Dean Suhr, Chief Innovation and Community Development Officer, RARE Project

RARE Disease Drug Development … it’s complicated!

RAREproject — Fri, 24 Feb 2012 17:11:57 +0000

The development of any drug is a very complicated process … for RARE diseases the task is especially difficult due to the limited patient populations. Typically the disease is less well understood and there are fewer patients to access for testing to prove the drug works.

We’re hoping this simplified overview of the process will help you better understand the complexity. Subsequent posts will review the legislative process and introduce several bills we are supporting to to make the process more efficient.

1. Compound Discovery

This is the process by which scientists work to discover at the molecular level a compound to affect diseased cells with a certain type of “drug”. Based on the biochemistry of the disease, the scientists can either rescreen/repurpose existing drugs or they can develop an entirely new compound. See Bio’s detailed description of the process here.

2. Pre-clinical Research

The proposed compound is refined in the laboratory, usually using cell cultures of some sort. The compound is optimized for safety and efficacy and then further tested, often with animals, to determine whether or not the “drug” is safe enough and has enough promise of efficacy to test on humans.

3. IRB and FDA Approval for Studies in Humans

The researcher packages up all of their lab and animal study data, along with a proposed clinical trial design and applies to both their local IRB (Institutional Review Board) and the FDA for approval for a Clinical Trial. The FDA application is often in the form of a IND (Investigational New Drug) application. Either the IRB and/or the FDA may ask the researcher to provide more data and/or to make changes in the design of the clinical trial. The clinical trial design includes specific criteria for who can participate in the trial, what is being tests, how it is being tested, and very specific “endpoints” that will be monitored determine whether the drug worked or not.

The guidelines for clinical trial design and review are established by Congress and enforced by the FDA. Rare diseases place a special burden on the trial designer and regulators due to often somewhat limited knowledge about the natural course of the disease, its biochemistry, the very limited patient populations, and the fact that many of these disease are very aggressive and affect children. The FDA often struggles applying regulations designed for chronic diseases to the quite different rare disease environment.

4. Phase I, II, and III Clinical Trials

Clinical Trials are performed on humans, usually those affected by a particular disease. The purpose of a clinical trial is to prove or disprove a hypothesis. Active Clinical Trials are listed at ClinicalTrials.govand can be filtered by disease and study type.

These trials are very structured with specific inclusion and exclusion criteria as well as very specific endpoints and outcome tests that determine if the hypothesis is correct or not. This criterion is set in advance and is normally not able to be changed during the trial. The Principal Investigator (PI) is in charge of the trial. The PI often wants very close control of the trial, perhaps even by limiting the number of sites to reduce variability and to maintain close tabs on all adverse events, all of which, no matter how small, must be reported to the FDA for review.

Phase I is a safety study – usually performed on a small group of patients.

Phase II is a dosing study – to determine the dosing for the larger efficacy trials. With rare diseases, Phase I & II are often combined into a Phase I/II Study.

Phase III tests efficacy – the FDA wants efficacy studied on a large population, but in rare diseases this many only be one or two dozen individuals. With rare diseases, Phases II & III are sometimes combined into a Phase II/III Study.

5. NDA (New Drug Approval) Application

With rare diseases, the NDA Application usually comes after Phase III (with chronic condition research it’s after Phase IV). The NDA is a very lengthy document covering all aspects of the basic research and clinical trials, including all adverse events. The FDA has a specified period of time to review NDA’s and to respond to the application. The guidelines for NDA review and Final Approval are established by Congress.

6. Post-Approval Studies & Final Approval

The Phase IV study for rare diseases often comes after market release to continue to study the drug across a broader population while still gathering review data in a structured fashion. Phase IV studies for rare disease may involve the entire eligible patient community making Final Approval somewhat moot as all patients are already receiving treatment.

Many of you may have heard of the Orphan Drug Act of 1983. It gives industry some market protection and potentially some financial incentives to develop drugs for rare diseases. It should be pointed out that the Orphan Drug Act does not change the FDA’s Clinical Trial Requirements or their Final Approval and Review criteria – today, all drugs, chronic & rare, must meet the same criteria. And while some flexibility is taken based on very small rare disease patient populations – there is no relaxation of the any scientific aspects of the criteria simply because the diseases are rare.

And finally, while it seems like a straightforward process when we lay it out on paper, the reality is that drug development takes a long time, is full of laboratory and trial iterations, success, & failures, and usually takes many years to complete. Preclinical discovery and lab work can take years, if not decades. Each phase of a Clinical Trial can take 2+ years start to finish by the time you add in IRB & FDA approval, recruiting, and data analysis. The development, trial, and approval costs today are estimated in the many 10′s of millions, if not low hundred’s of million of dollars for a typical drug development program from start to market when you include the many failures and project cancellations along the way to one successful market launch.

Be sure to look for related posts in this series on the legislative/regulator process that guide the FDA and some current legislation in congress that will expedite and optimize the RARE disease drug development process.

Charities Unite Worldwide to Fund Research into Reversibility of Brain Damage Caused By Sanfilippo Syndrome

nboice — Wed, 25 Jan 2012 20:29:05 +0000

Charities Unite Worldwide to Fund Research into Reversibility of Brain Damage Caused By Sanfilippo Syndrome

(RARE Project – Dana Point, CA) Rare Disease affects 350 million people worldwide, consisting of 7,000+ identified diseases and disorders. Currently less than 5% of all rare diseases have any type of therapy or treatment, and much of the early stage research is frequently seed-funded by parent advocates, advocacy organizations and non-profit groups. There is an important new trend in rare disease research where a group of rare disease advocates (sometimes representing different rare diseases), collaborate, and pool their resources to fund promising early research.

Led by the Team Sanfilippo Foundation, a group of worldwide charities has announced a $145,000 AUD grant to Dr Kim Hemsley and Professor John Hopwood in Adelaide, Australia to study the fundamental disease processes involved in the pathology of MPS III Sanfilippo Syndrome.

“The ability to treat symptomatic, older patients is crucial not only for patients currently living with neurodegenerative disorders like Sanfilippo Syndrome but also for future patients that will inevitably go undiagnosed until they show symptoms. Given the rarity of lysosomal storage diseases, global collaboration is required to obtain critical mass in our collective battle. ”

-Kathleen Buckley, President of the Team Sanfilippo Foundation

“Collaboration is critical and necessary for the rare disease community on all fronts. From helping build awareness to funding research, the more we unite the more impact can be made. Those forward thinking organizations that understand this will move the needle much more quickly for their specific causes. The Sanfillippo community is making strides on important research that will ultimately help find treatments and cures much more quickly. They are a model for others.

-Nicole Boice, Founder of the R.A.R.E project

Sanfilippo Syndrome is a rare and progressive neurodegenerative disease affecting 1 in 70,000 births¹. It is caused by a genetic defect resulting in a dysfunction of one of four crucial enzymes. The absence of any of these missing enzymes results in an accumulation of heparan sulfate. The disease primarily affects the brain and central nervous system. Children develop normally for the first couple years of life and then suffer progressive loss of skills including the ability to talk, walk, eat and even eventually breathe. Affected children typically die as teenagers.

There is hope that the current treatments in human clinical trials, enzyme replacement and gene therapy, will halt the progression of the disease but are not expected to fully recover lost cognitive ability. While a missing enzyme and resultant build-up of waste materials are implicated as the root cause of the disease, incomplete knowledge exists as to the precise damage mechanisms at play in the pathology of the disease. Understanding these processes is important to improve the life of patients whose treatment has begun after they show symptoms. As newborns are not screened for the disease, most patients are not identified until symptoms present.

This effort will use the latest science to study the real-time progression of the disease in a mouse model, enabling an understanding of what goes wrong and why. The ultimate goal is that this new understanding will lead to more effective treatments and a better understanding of what, if any, of the damage might be reversed.

While this study will focus on Sanfilippo Syndrome, the findings of the study will benefit those suffering from similar disorders with similar pathways (e.g. Hunter Syndrome, Hurler Syndrome, Tay-Sachs, and others)

For more information regarding ongoing clinical trials in Sanfilippo Syndrome, see:

Sanfilippo Syndrome Type A

http://clinicaltrials.gov/ct2/show/NCT01155778?term=sanfilippo+syndrome&rank=3

http://clinicaltrials.gov/ct2/show/NCT01047306?term=sanfilippo+syndrome&rank=4

http://clinicaltrials.gov/ct2/show/NCT01474343?term=sanfilippo+syndrome&rank=6

Sanfilippo Syndrome Type B

http://clinicaltrials.gov/ct2/show/NCT01509768?term=sanfilippo+syndrome&rank=1

Inquiries regarding this effort may be made to teamsanfilippo@gmail.com.

Funding for the project is provided by

Team Sanfilippo (USA) www.teamsanfilippo.org
Stop Sanfilippo (Spain) www.stopsanfilippo.org
Little Maciek & Great Wizards (Poland) maciek.lepszypoznan.pl/
The Sanfilippo Foundation for Children (USA) www.sf4k.org

This press release was generated in collaboration with and sponsored by the R.A.R.E Project, a 501c3 non-profit organization whose mission is to increase awareness, build a connected community and catalyze funding for early research, all in an effort to make life better for those living with rare disease. For more information www.rareproject.org

¹Sanfilippo Syndrome Retrieved January 19^th, 2012 from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002190

Wall Street Journal Reports – Do It Yourself Drug Development, With Some Help!

nboice — Tue, 27 Dec 2011 23:45:38 +0000

The effort by two families to buy and develop a drug that holds promise in treating Duchenne muscular dystrophy — described today in the WSJ — is the result of an innovative new model set up to support the burgeoning phenomenon of do-it-yourself drug development. Before the Seckler and Wicka families bought halofuginone, a drug that showed promise in experiments done with Duchenne mice, they set up Dart Therapeutics. Dart is funded by foundations set up by the two families, and run by Eugene Williams, a drug industry veteran with 25 years’ experience, including seven years at Genzyme. Mutual acquaintances led the Secklers and Wickas to Williams in 2010, when the families were discussing how to advance drug development in Duchenne muscular dystrophy. The disease is rare, with only around 20,000 new cases a year, and both families were increasingly frustrated that despite raising many millions to help fund research and experimental drug development programs, promising compounds frequently went nowhere. They wondered if, with expert advice, patients and advocates in some cases might be able to develop drugs themselves. That idea led to the formation of Dart in June, 2010. Williams, who is the chairman, put together a “virtual company” — with no big in-house staff — comprised of former senior executives and consultants expert in developing drugs and getting them through the FDA approval process. The idea, says Tracy Seckler, whose son Charley has Duchenne and whose Charley’s Fund foundation is co-owner of Dart, was to create a vehicle to identify potential compounds, make deals, and develop the drugs. Williams says that in developing drugs for rare diseases, patients and advocates have to take a variety of approaches. Dart’s job is to assess how to best move a drug forward. In some cases, that may mean putting up some money to get other companies to focus on a compound or to pay for testing or other studies to move the program forward. In other cases, Dart will provide advisers and consultants to oversee pre-clinical work that a traditional pharma or biotech company might not want or be able to take on. “We want to help reduce the risk so drugs don’t get stalled,’’ says Williams. By Amy Dockser-Marcus In cases where Dart decides it’s worth it to buy the drug — which is what happened when it took a look at halofuginone — a separate company will be formed. (In the case of halofuginone, the company is called Halo Therapeutics.) Williams presented the model at a FasterCures conference last year in an effort to spread the word to other patient-driven foundations. Ultimately, some of those foundations may become customers of Dart. Seckler tells the Health Blog that the goal is not only to help do-it-yourself drug development for Duchenne but also other orphan diseases that can use outside experts to negotiate deals, oversee experiments, and work with the FDA. http://blogs.wsj.com/health/2011/12/27/do-it-yourself-drug-development-with-some-help/ “We hope to generate revenue to continue what we’re doing in Duchenne muscular dystrophy by providing these services,” she says.

RARE DISEASE RESEARCH – Center for Applied Genomics

nboice — Sun, 11 Dec 2011 21:52:09 +0000

Rare Disease Research at the Center for Applied Genomics:
Discovering the genetic variants that cause rare disease are essential to delivering better diagnoses, improved treatments, and preventive medicine. The most accurate and cost-effective method of achieving this goal is to sequence the genomes of affected patients, as well as their first-degree relatives. At the Center for Applied Genomics (CAG) at the Children’s Hospital of Philadelphia, we have launched an innovative initiative aimed at identifying the cause of, and treatments for hundreds of rare diseases.
The initiative has its roots in another large-scale project launched at the Center in 2006 – to collect and analyze medical data and blood samples from more than 100,000 children. Currently almost 70% towards this total, the database constitutes the largest pediatric biobank in the world. By extension, it is also one of the largest rare disease repositories – with some 6,500 samples represented, and a further 10,000 available via collaborations in the US, South America, Europe and Australia. Our goal in the next five years is to sequence the genomes of the majority of these patients.
In tandem with the genome sequencing effort, CAG has also established a major translational research program, whose primary purpose is to identify drug treatments for relevant rare disorders. The sequencing and translational program are natural allies – once the causal genetic factor is identified, it is essential that we move quickly to find an effective treatment. In terms of rare-disease, the most cost-effective and time-efficient approach is to identify drugs that have already been developed. Every drug that has reached the stage of clinical trials has an existing literature, which outlines molecular properties of the drug and clues as to its effects on physiology. By matching the biological function of a damaged gene with the biological properties of an existing medication, we can come up with a targeted treatment – a pharmacological intervention tailored specifically to match the mal-functioning gene. Often this involves drug repositioning, meaning that we take a medication previously developed to treat one disorder and applying it to an entirely different disorder. By way of example, researchers at CAG are currently working on a program that utilizes a drug developed to treat Alzheimer’s and applying it as an intervention in rare forms of ADHD.
Another component of our translational program involves studying the function of the mutated gene in model systems such as cell cultures, to determine relevant physiological properties. While this component may not have the same immediate impact, it is essential to understanding the course of the disease, and will ultimately yield long-term benefits in terms of disease management, and refining treatments.
Recent developments in technology and analytical software allow us to pursue our sequencing and translational efforts with ambitions scarcely conceivable a decade ago. The first human genome sequenced was done so at a cost of several hundred million dollars. At CAG, we can now accomplish the same feat for roughly $5,000. As such, we can sequence a patient as well as first-degree relatives (important to zeroing-in on the causal locus) for less than $25,000. For roughly the same cost, we can perform the requisite analyses for determining the causal genomic locus. Although these are non-trivial amounts, they are dwarfed by the huge investments required to accomplish similar results in the very recent past. We believe that the time is now right to launch a major offensive on rare disease – never before have the instruments of success been so readily available.
The Center has instigated a major fund-raising initiative, which will allows us to sequence the majority of samples in our repository, with the ultimate end-goal of translating relevant findings into targeted treatments. To this end, we hope to partner with the RARE Fund, which represents a paradigm-shift in terms of how this type of research may be funded, and represents an exciting opportunity of bringing non-scientists into the fold of cutting-edge research.
If you have any questions about the Center or our program, please feel free to contact me (connollyj1@chop.edu), or check-out our website at www.caglab.org.

Spasmodic Dysphonia – A RARE voice condition

Amy Grover — Fri, 25 Nov 2011 19:55:27 +0000

It is often described as an attack of laryngitis that “just didn’t go away” or an unexplained break in the voice, especially when certain words are produced. This is spasmodic dysphonia, a poorly understood condition in which the muscles that control the voice box involuntarily tighten.

Spasmodic dysphonia appears to originate in the basal ganglia of the brain, according to Voice Doctor.com. Recent research indicates a problem with the feedback loop between the brain and the muscles that control the voice box. This results in over-control and therefore tightening of the muscles.

This condition is classified as a focal dystonia, or involuntary muscle contractions in a particular small area of the body. A common example of a focal dystonia is writer’s cramp, in which the muscles that control the hands involuntarily tense up. Spasmodic dysphonia is the same type of condition but it afflicts the muscles that control the voice box.

Medscape.com indicates that the usual age of onset of this condition is between 39 and 45 years of age, but it may appear as early as the 20′s or as late as the 90′s. No genetic link has been established, but about 12 percent of patients indicate they have a relative with spasmodic dysphonia. It also frequently occurs with tremor.

The cause of the condition is not clear. About half of patients with spasmodic dysphonia report that onset occurred after a respiratory infection or a stressful life event.

Two types of dysphonia affect the voice: adductor and abductor dystonia. Adductor dysphonia, the more common form, affects the muscles that close the vocal cords. The voice sounds strained or strangled.
Abductor dysphonia is associated with tension in the muscles behind the larynx which open the voice box for breathing. The voice is breathy or whispery, and unvoiced consonants are prolonged. The patient has difficulty producing vowel sounds after unvoiced consonants.

Early physicians believed spasmodic dysphonia to be a psychological disorder, but this has not been borne out by investigation. The treatment of choice today for this chronic condition is botox injections. The price of botox is about $10-15 per unit, and varying amounts are used depending on patient needs, symptoms and individual risk factors.

Botox injections for adductor problems are made in the muscles occurring at the front of the throat. To treat abductor dysphonia, the physician must inject botox into the muscles behind the voice box and in front of the pharynx.

Botox has a very limited shelf life and must be special-ordered. Once the injection is completed, an initial phase of voice weakness may be experienced. After this passes, the usual effect is an improved voice function for about 12 weeks. After this, the injection must be repeated.

A recent report by the National Institutes of Health indicates that a rare complication of botox treatment for adductor dysphonia may cause abductor dysphonia, with some difficulty in breathing on exertion. Adjustment or discontinuation of botox injections leads to resolution of this problem.

Botox treatments may improve the voice of a patient who has experienced difficulty with speaking for even a prolonged period of time. Each patient and physician must weigh the benefits and risks of treatment.

RE Children's Project launches innovative research consortium

Seth Wohlberg — Thu, 20 Oct 2011 21:01:24 +0000

Please follow this link to read about about our latest efforts to find a cure for rasmussen’s encephalitis. Thank you.

Seth Wohlberg

www.rechildrens.org

The Foundation for Prader-Willi Research (FPWR) Wins $50,000 RemedyMD Rare Disease Research Registry Donated by the Children’s Rare Disease Network (CRDN)

nboice — Wed, 19 Oct 2011 21:31:20 +0000

Announcement Comes After a Summer of Entrants Submitting Video Clips Telling Their Unique Stories in Exchange for Chance to Win Leading Life Sciences Research Software

DANA POINT, CA/SALT LAKE CITY, UT, Oct. 17 /MarketWire/ –- In the spirit of Rare Disease Day, the Children’s Rare Disease Network (CRDN) received a donation from RemedyMD^® (www.remedymd.com) of its Mosaic Platform RegistryOnDemand™ product specifically created for rare disease research organizations. In turn, the CRDN announced a plan to give this research registry tool away to one deserving winner via an online video contest. That winner, announced today, is the Foundation for Prader-Willi Research (FPWR). The FPWR (www.fpwr.org) is dedicated to eliminating the challenges of Prader-Willi Syndrome (PWS) that affecting about 1 in 25,000 live births. PWS is the most common genetic cause of obesity and typically causes low muscle tone, short stature, incomplete sexual development, slow metabolism and a constant and chronic feeling of hunger. Historically PWS leads to excessive eating and life-threatening obesity.

The Mosaic Platform medical research software allows for the collection of disease data from any available sources including self-reported patient longitudinal data, and features powerful query and analysis tools to accelerate breakthroughs in treatments or cures. RemedyMD also just announced its software will be implemented at 10 NCI (National Cancer Institute) locations as part of SAIC-Frederick’s Advanced Technology Program.

“Using videos for giving away this rare disease registry was a great way to advance our goal of continuing education surrounding rare diseases and to generate global awareness,” said Nicole Boice, founder and president, RARE Project. “Many rare diseases affect small numbers of patients and because of the rarity of each condition, research is underfunded.”

RemedyMD will work with FPWR to configure its Mosaic Platform registry software to suit their needs—including aggregating and harmonizing available data and showing them how to easily collect new data, so the integrated powerful querying tools can recognize new patterns to develop new treatments or cures. The unique configurability of the registry is what allows all rare disease researchers to collect exactly what they need—while leveraging nearly a decade of software development they could not have spent millions to develop on their own.
“Building an International PWS registry is a real paradigm shift,” commented Keegan Johnson, Executive Director of the FPWR. “Having a world class registry represents a significant opportunity to advance PWS research. A world of thanks needs to go out to the CRDN, RemedyMD, and our supporters.”

Theresa Strong, Ph. D., chair of the FPWR Scientific Advisory Board added, “We have an aggressive research agenda and are excited to link together research data from many organizations across the globe. The Mosaic Platform will allow us to see and analyze patterns that are not visible without a centralized view of the data. We believe allowing the best PWS researchers in the world to easily access this data will speed up new discoveries.”

RemedyMD CEO, Gary D. Kennedy, also added, “This project was important to us because the difference our software can make to researchers is significant. We offer pricing especially for rare diseases, and so our biggest challenge is merely making the public aware that it is available, powerful, and attainable.”

A recording of Wednesday’s webinar when the Mosaic Platform disease registry software was briefly demonstrated and the winning video was announced can be viewed at https://www.1gotomeeting.com/register/234937185. Contest video entries can be viewed at www.YouTube.com/RareDiseaseContest including those for Nephrotic Syndrome and FSGS, Marshall-Smith Syndrome, Pseudotumor Cerebri, Eosinophil Associated Diseases, Congenital Myasthenic Syndrome, Disorders of Sex Development, Pachyonychia Congenita, and the winning video from Prader-Willi Syndrome.

About RemedyMD
RemedyMD’s medical registry software leverages health care information technology to advance rare disease and other types of research. RemedyMD helps researchers aggregate and harmonize data from widely disparate sources and then identify patterns that result in accelerated discoveries. Our tools help collect, host, manage, and query data regardless of source; conduct experiments; manage studies and biospecimen; and help researchers build their own registries. For more information visit: www.RemedyMD.com.

About The Children’s Rare Disease Network
The Children’s Rare Disease Network is a program of RARE Project, a 501(c)(3) organization. RARE Project exists to raise awareness, build community and fund in-their-lifetime research, all in an effort to make the lives better for those living with rare diseases. For more information about the RARE Project or Children’s Rare Disease Network, please visit us at www.rareproject.org

About the Foundation for Prader-Willi Research

The Foundation for Prader-Willi Research was established in 2003 by a small group of parents who saw the need to foster research that would help their children with Prader-Willi syndrome lead more healthy and fulfilling lives. Today, FPWR is composed of hundreds of parents, family members, researchers, and others who are interested in addressing the many issues related to PWS, including childhood obesity, developmental delay, psychiatric disorders and autism spectrum disorders.

T The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research. For more information visit: www.fpwr.org. High quality research will lead to more effective treatments and an eventual cure for this disorder. By working together, we intend to free our loved ones from the burden of PWS, allowing them to lead full and independent lives.

RemedyMD and the Children’s Rare Disease Network to Announce Winner of $50,000 Rare Disease Registry via Webinar, October 12th

nboice — Mon, 10 Oct 2011 15:57:44 +0000

Rare Disease Organizations Anxiously Await Results of Summer-Long Online Video Contest
Giving Away Leading Life Science Research Platform

Earlier this year we received a donation from RemedyMD (www.remedymd.com) of its RegistryOnDemand™ product specifically created for rare disease research organizations. We in turn announced a plan to give this research registry tool away to one lucky winner via an online video contest. That contest ended last Friday, and the winner will be announced via live webinar this Wednesday, October 12^th at noon Eastern.

Attendees can hear the winner and watch an educational demonstration of the unique rare disease research technology for free by registering at https://www1.gotomeeting.com/register/234937185.

The RemedyMD medical research software allows for the collection of disease data from any available sources including self-reported patient longitudinal data, and features powerful query and analysis tools to accelerate breakthroughs in treatments or cures. Because of its unique technology, RemedyMD also just announced its software will be implemented at 10 NCI (National Cancer Institute) locations as part of SAIC-Frederick’s Advanced Technology Program.

RemedyMD will work with researchers at the winning disease organization to configure its Mosaic™ registry software to suit their needs—including aggregating and harmonizing available data and showing them how to easily collect new data, so the integrated powerful querying tools can recognize new patterns to develop new treatments or cures.

The unique configurability of the registry is what allows all rare disease researchers to collect exactly what they need—while leveraging nearly a decade of software development they could not have spent millions to develop on their own. RemedyMD offers rare disease researchers special pricing due to their inherent lack of funding.

Contest video entries can be viewed at www.YouTube.com/RareDiseaseContest including those for Nephrotic Syndrome and FSGS, Marshall-Smith Syndrome, Pseudotumor Cerebri, Eosinophil Associated Diseases, Congenital Myasthenic Syndrome, Disorders of Sex Development, Pachyonychia Congenita, and Prader-Willi Syndrome.

Thanks again to all who participated, and you can register for the Oct. 12^th free webinar which we will say a few words at by visiting https://www1.gotomeeting.com/register/234937185

Children’s Rare Disease Network is a program of RARE Project a 501c3 organization – www.rareproject.org

FINAL DAY TO ENTER TO WIN RARE DISEASE REGISTRY!

Amy Grover — Fri, 30 Sep 2011 16:18:34 +0000

Today is the Final Day to Enter Videos to Win the RemedyMD Registry!

This is it! You have until midnight tonight to submit your video just a few minutes in length, for your chance to win the R.A.R.E. Project and RemedyMD rare disease registry contest.

The winner will receive a rare disease research software suite valued up to $50,000, which can be donated to the organization of the winner’s choice to study their rare disease. Anyone can enter. The software from RemedyMD is already in use by other rare disease researchers, and can collect and analyze data to make breakthrough discoveries faster.

For official rules and details visit http://www.remedymd.com/RareDiseaseContest.php. The winner is not solely based on total video views or ‘Likes’ on YouTube, so entries are still encouraged. To view existing video entries go to http://www.youtube.com/RareDiseaseContest.

Register for the free webinar below to learn more about these research tools, and listen as the winner is announced live:
https://www1.gotomeeting.com/register/234937185