Malaria is caused by a parasite called Plasmodium, which is transmitted via the bites of infected mosquitoes. The Anopheles species of mosquito is the only breed of mosquito that transmits the parasite to humans. According to the World Health Organization, about half of the world’s population is at risk. Every year, this leads to about 250 million malaria cases and nearly one million deaths

The strategies to reduce malaria transmission include mosquito-control measures, such as spraying insecticides inside houses and draining standing water where mosquitoes lay their eggs. Also, the mosquito bites can be prevented by using inexpensive mosquito nets and insect repellents. Unfortunately, these methods are becoming less effective as both mosquitoes and Plasmodium evolve ways to resist the toxic treatments. This means new ways of preventing malaria are sorely needed.

Now, new research has brought hope to all those living in regions affected by the disease. According to a study published in PLoS Pathogens, scientists led by Dr. Michael Riehle have managed to alter the mosquitoes’ genome in such a way that the Plasmodium parasite is no longer able to cause infection. The genetically-modified mosquitoes will still bite. However, they won’t leave behind Plasmodium, the malaria-causing parasite.

This advance could lead to the release of genetically-modified mosquitoes into malarial regions of the world to prevent the transmission of Plasmodium. But, to help with controlling the disease, the mosquito must first be proved safe for release into the wild and, second, must be given some advantage that renders it superior to natural populations so it can drive them out.

“The eradication scenario requires three things: A gene that disrupts the development of the parasite inside the mosquito, a genetic technique to bring that gene into the mosquito genome and a mechanism that gives the mosquito an edge over the natural populations so they can displace them over time,” said Dr. Riehle “The third requirement is going to be the most difficult of the three to realize. It would probably take at least a decade, if not more.”

For detailed analysis and comment of these news, please visit CheckOrphan website here.

The original study published on July 15 in PLoS Pathogens http://www.plospathogens.org is here.

A form of Pfizer Inc.’s erection drug Viagra, sold as the blood-pressure treatment called Revatio in adults, may be used for children with a rare lung disorder if U.S. regulators can agree on how to test it.

The condition, called pulmonary arterial hypertension, affects only 600 children a year, New York-based Pfizer said. It causes high blood pressure in arteries in the lungs, making the right side of the heart work harder than normal and causing chest pain, dizziness and fatigue. Outside advisers to the Food and Drug Administration are set to meet July 29 to evaluate whether Pfizer’s study of Revatio is sufficient to determine its effectiveness in children, the agency said today.

If the New York-based company meets FDA requirements, the drug would get an extra six months on the market without generic competition. Patents on the drug, with 2009 sales of $1.89 billion as Viagra and $450 million as Revatio, are expected to expire in 2012. Some doctors are already using the treatment in kids with the lung condition.

“It’s a good option in pediatric patients because it is well-tolerated, in that it doesn’t have as many side effects as some of the other options,” said Chad Knoderer, a pediatric clinical pharmacist at Riley Hospital for Children in Indianapolis, who has used Viagra in kids with the disorder.

FDA Request

The FDA in 2001 asked Pfizer, the world’s biggest drugmaker, to study the medicine in children with the lung disorder. Sildenafil, the chemical name for both Viagra and Revatio, blocks an enzyme found in the lungs and penis that regulates blood flow. Pfizer is considering whether to seek approval for Revatio, a lower-dose form of sildenafil, in children, said Colin Ewen, an executive director at the company, in a July 23 telephone interview.

Pfizer shares rose 16 cents, or 1.1 percent, to $15.18 at 10:09 a.m. in New York Stock Exchange composite trading.

The FDA is asking its panel of advisers to decide what is the best measurement to use in determining if the drug is effective in children with pulmonary hypertension.

In adults, researchers typically use an exercise test to determine if the drug is having a benefit. Because that test was difficult to perform in young children, Pfizer has asked the FDA to consider an alternative test that measures blood flow by inserting a catheter through the arteries.

In Pfizer’s study of 234 children, the drug failed to show a benefit when the children’s exercise ability was measured. However, it did show a significant benefit when researchers used an alternative measure of blood flow.

By AMY DOCKSER MARCUS

A government program focusing on rare diseases has launched five pilot projects that are taking the National Institutes of Health in a new direction: developing drugs.

The NIH Therapeutics for Rare and Neglected Diseases (TRND) program was established last year with $24 million of funding. TRND will work together with scientists, advocates and others to do the required research and testing on drugs before a compound can be tried in humans in a clinical trial.

Promising new drugs discovered through basic research often flounder during this stage of the process, which is expensive, time-consuming and prone to failure.

The pilot projects, three of which were selected this spring, target drug development for sickle-cell disease; chronic lymphocytic leukemia; the fatal neurodegenerative disease Niemann-Pick Type C; the genetic muscle disorder hereditary inclusion body myopathy; and the parasitic diseases schistosomiasis and hookworm.

The projects, which are in various stages of development, were selected because they illustrate a range of problems and issues in the effort to drive drug development.

The problems include the high cost of studies in animals to determine if a drug is too toxic to give to humans, the challenges of meeting regulatory requirements before the Food and Drug Administration allows clinical trials to begin, and the sheer amount of coordination that goes into getting a new drug to market.

“Most of the problems we are addressing are not scientific problems,” said Christopher P. Austin, director of the NIH program. “They are operational issues.”

For most new drugs, these issues are handled by a pharmaceutical company. Rare diseases, which the NIH defines as diseases that affect fewer than 200,000 people in the U.S., represent a small market.

As a result of the small markets, many pharmaceutical companies are reluctant to take on the risks and expense of trying to develop new drugs for these conditions.

TRND is assigning project managers with experience in drug development to the pilot projects to help identify the necessary steps to get to clinical trials.

The sickle-cell disease project, for instance, involves AesRx LLC, a Newton, Mass., biotech company, and needs to complete toxicity studies and regulatory work to launch a trial.

“The alternative would be to raise outside capital from venture capitalists,” said Steve Seiler, chief executive of AesRx. Mr. Seiler said at this stage of the project it would have been difficult to get the financing. “Once we have human clinical data, it is much different,” he said.

With the muscle disorder hereditary inclusion body myopathy, William A. Gahl, clinical director of the National Human Genome Research Institute, said he had been unable to launch a clinical trial to test a promising compound for three years, before the project was taken up by the NIH program.

He said that before he could start a clinical trial with the compound, the FDA wanted toxicology studies conducted in animals, at an estimated cost of $500,000 to $1.5 million—money the small biotech company and patient advocacy group he is working with didn’t have available. “We were about to give up,” Dr. Gahl said.

TRND is getting toxicology studies done and has hired a regulatory consultant to help address any regulatory issues with the FDA to get permission to start a trial.

“TRND has smoothed the way enormously,” said Dr. Gahl, who said he hopes to launch the trial this year.

In the case of Niemann-Pick Type C, TRND’s Dr. Austin had previously worked with a group of scientists and parent funders called SOAR-NPC to screen already approved FDA compounds to see if they might be effective against the disease. A promising compound was identified, but extensive work will be required to determine whether the drug is safe and effective enough to be tried in patients, Dr. Austin said.

This kind of tinkering with a promising drug—testing it in animals and then going back to the lab for further tweaks—is both time-consuming and expensive, and can be out of the reach of a parent-funded organization like SOAR.

Last week, at the annual conference of the advocacy group Genetic Alliance, Dr. Austin, a parent funder in SOAR, and Steven U. Walkley, a professor at Albert Einstein College of Medicine who is a member of SOAR, gave a joint talk that addressed some of the pressures the NIH program faces.

“There is a lot of promise built in to TRND, but there is no guarantee that they will be able to make the science deliver a therapy for a disease,” Dr. Walkley said.

Dr. Austin said he recognized that “we have to succeed with these pilot projects, and if we don’t, the program won’t continue.”

Half of the program’s budget this year is going to fund the five pilot projects, he said. The other half of the budget is going to setting up TRND. Dr. Austin added that the program plans to solicit additional projects in September.

Link to article

In my efforts with Be the Change, I want to identify simple yet effective ways to reshape and strengthen the relationship between patient, family and medical providers. By it, creating a more real and honest exchange of information, with the patient at the center, improving the way health care is received and delivered everyday.  I believe this is possible by making patient perspective additions to health care education, training and day to day health care operations which involve all medical staff from housekeeping to CEO.

This can be accomplished in a number of ways, but I think it begins with our own patient and family health care experiences.  These valuable, hard-earned lessons gleaned from personal interactions with health care providers, are the heart of what is considered the patient perspective and should be integrated into health care curriculum and processes. In doing that we give it the ability to affect how health care providers are currently being taught to care for patients and family’s, which in my opinion is far too clinical.

Be the Change wants to go beyond just talking about being the change. The last few months I have seen the importance of Be the Change talks and presentations and I consider them to be a very valuable asset.  However, I desire to make a long lasting change in the medical community regarding the way patients, family’s and providers communicate. Therefore, the value of the patient perspective needs to be in print in addition to a verbal presence in order to accomplish that long lasting affect.

Through Be the Change and the patient perspective, the human experience will hold equal value to the medical experience.  The whole family will be cared for in the way a patient and provider communicate.  Patient and provider will hold equal weight in every choice and decision that is made from small decisions such as appointment times to larger ones like surgical options. Be the Change looks forward to the day when a patient knows ALL of the choices that are available in any given situation and not just some times, but every time. ALL the variables will be laid out for an informed decision to be made with patient and provider working together as partners, each bringing their own unique experiences and wisdom into the decision.

That is where the best possible outcome will be achieved.

Just in time for the birthday of the Americans with Disabilities Act.

// Catherine Calhoun

Age: 25 years old

Insurance Status: Uninsured

Diagnosis: Metastatic Testicular Cancer (Nonseminomatous germ cell tumor)

Testicular cancer was made “famous” by the great Lance Armstrong; here an incredible athlete who won the Tour de France a record seven consecutive times had testicular cancer that metastasized to his brain and lungs. Armstrong beat the cancer, and shortly thereafter founded the Lance Armstrong Foundation (remember all those yellow LIVESTRONG bracelets) AND returned to the Tour de France in 2009, after four years of retirement, taking third place. [Side note: The 2010 Tour de France ended today, July 25, and was won by Alberto Contador for the third straight time.]

Testicular cancers are incredibly rare, as they account for about 1% of all cancers in men, and less than 8,400 cases are reported annually in the United States; testicular cancer is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). Generally speaking, testicular cancer is one of the most curable forms of cancer. There are nearly 170,000 men who have survived testicular cancer in the United States.

However, the boy mentioned above has Stage III testicular cancer, and now needs more than just another round of chemotherapy for a glimmer of hope. He needs an experimental autologous cell bone marrow transplant. Transplant services are usually not covered under Medicaid or Emergency Medicaid. The Temporary High Risk Pools are not set up everywhere yet, and even so the patient may not be eligible due to immigration status. There are only so many comprehensive cancer centers that are able to do such a procedure, much less one that would be willing to do it as “charity care”. I spoke with the National Marrow Donor Program and the Be the Match Registry to see if they could provide any resources, and they told me they mainly only work with patients in the leukemia and lymphoma society…

I share this story because it highlights the importance of the work that we all do, through alliances and partnerships of different patient Foundations, and the advocacy we facilitated towards passing health reform legislation. But our job is not yet finished. There is much more work to be done, and there are still patients who slip through the cracks. The system is not meeting the needs of patients with rare diseases and complex illnesses. What recommendations and solutions can you offer? Speak up, we need you.

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In the news:

You can read the testimony of Diane Edquist Dorman, Vice President for Public Policy of the National Organization for Rare Disorders (NORD), before the Senate HELP Committee on July 21 at their hearing on “Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures.”

A congressional caucus is a group of members of the United States Congress that meets to pursue common legislative objectives.  A Rare and Neglected Diseases Caucus has been formed in the US House of Representatives by Congressmen Joseph Crowley (D-NY) and Fred Upton (R-MI).  To find your representative’s phone numbers, you may visit http://www.house.gov, use the searchable online congressional directory at Congress.org, or call the U.S. Capitol Switchboard at (202)224-3121 and ask for your representative’s office. Remember that telephone calls are usually taken by a staff member, not the member of Congress. Ask to speak with the aide who handles health care issues, or the health legislative assistant. Nord has also provided a Dear Colleague Letter which you may be interested in sending.

RareArtist.org was created by the Kakkis EveryLife Foundation for artists affected by a rare disease. They received many exceptional works of art during their inaugural EveryLife Art Contest which inspired them to create a venue to display this art and invite others to upload and share their art. Cick here to check out the RareArtist Gallery.

MarbleRoad is planning a launch and fundraising event October 9, 2010 in Washington, DC. Save the date! The fundraising portion will feature an art auction of several professional artists, each who have a compelling story to share related to complex illness—from cystic fibrosis and organ donation to transverse myelitis and RSD/CRPS, and much, much more. Proceeds will be used to provide financial assistance and support services to patients with complex illness. Please stay tuned for additional information. If you have any questions please contact Howard Liebers.

To bridge this gap, the Spanish Society of Family and Community Medicine (Sociedad Española de Medicina Familiar y Comunitaria, semFYC), in cooperation with several other Spanish institutions, has recently released an on-line protocol – the DICE-APER – to improve the Primary Care for patients with Rare Diseases.

“The goal of this protocol is the improvement of diagnosis and information related to these conditions,” said Dr Miguel García Ribes, the coordinator of the Clinical Genetics and Rare Diseases Group, in a recent interview given to El Confidencial. “It also aims to facilitate coordination between the different specialist doctors and provide epidemiological data that allow better health planning, as well as to advance research.”

The DICE-APER protocol recommends a series of steps that a general practitioner or family doctor can follow once the patient has agreed to sign the informed consent . By using the DICE-APER protocol, the diagnosis of the rare disease can be further confirmed and catalogued. The search engine provided in the web site offers a number of links to more specialized pages, allowing a doctor to easily find more detailed information and treatments as well as patient organizations. The DICE-APER protocol also facilitates better coordination between the different medical professionals in contact with the patient. In addition to this, by ensuring a proper register of patients and epidemiology, it provides the health institutions with reliable data.

It is estimated that every Spanish family doctor examines every year between 10 to 15 patients affected by a rare disease. Following the DICE-APER protocol should not represent an additional effort, but provide another tool to help ensure that the care given to patients is correct. Also, medical professionals should explain to patients affected by rare diseases that they can join the registry and why they should do it. The growth of this database will contribute to establishing the real dimensions of this problem and at the same time support researchers and institutions.

To use the DICE-APER protocol, please visit this web site (in Spanish language)

To read more about the Rare Diseases Strategy of the Spanish National Health System, please click here (in English language)

We as patients need to be direct and crystal clear with our medical providers as to what they mean when they say “I will get back to you”. Does that mean this afternoon, tomorrow, the end of the week or sad to say in some cases, when they get back from vacation? I completely support any medical providers attempt to get adequate rest and relaxation which might include a vacation.  We want them to be at their optimum, but not at the expense of patients waiting for a return call wondering about important medical information.

Respect of a medical provider’s time is essential since they have an enormous job to perform. However respect of patient’s time is just as essential. Both roles have enormity to them requiring mutual respect that flows both ways.  I am more than willing to respect my nurse and doctor and the time it takes to do their job.  However, I am simply asking them to respect me back and the fact that I too perform an important job in my life. We need to come to a place of mutual understanding with regards to reporting of information.

Allow me to give you some hard earned tips for the next time you might be waiting for information from a nurse or doctor and someone said, “We will get back to you or someone will get back to you”.

-Confirm if the information will be given by a phone call or a letter

-Confirm who will be calling you back, the nurse or the doctor

-Confirm the exact date and approximate time you can expect a call back

-Confirm if the person in charge of your information will be out of the office the next    few days and if so, what will happen to your information while they are out

-Clarify your expectations with your provider and if they can’t meet them, ask to be referred to someone who can meet your expectations

It is important to be kind and respectful in your conversation. Make every attempt to keep your voice calm as you are communicating honestly about what you expect to happen.  Don’t be afraid to display your humanness in your attempt to obtain the best possible outcome. In my experiences with nurses and doctors it was when I was willing to share a human part of myself that it allowed them to do the same.  In being clear and direct about what I considered necessary in a medical as well as a human relationship with my medical providers, I was then able to be not only be a patient but also a mother, a wife, etc. The opportunity for a human experience inside the medical one was present allowing both of us, patient and provider, to serve and stay committed to each of our agendas. In that type of relationship we will raise the bar in the quality of health care received and delivered.

It is true that most often we can’t change what happens to us, but we can Be the Change while it’s happening.

WASHINGTON DC – An advocate for people with rare diseases today told a U.S. Senate committee that the burden of funding and driving research on rare diseases too often falls upon patients and their families.

“As a society, it is wrong for us to expect people with devastating diseases to fund the search for their treatments,” said Diane Dorman, vice president for public policy of the National Organization for Rare Disorders (NORD). “There are nearly 7,000 rare diseases, and only about 200 of them have treatments. Many are not being studied by any researcher in government, academia or industry.

“Through golf tournaments, raffles…even bake sales and car washes, it’s too often the patient community that funds and drives rare-disease research. We need a more significant commitment at the federal level.”

Dorman said the word “rare” is misleading, since about one in 10 Americans have diseases classified as rare. While each disease is unique, there are many problems and challenges that all people with rare diseases share, she added.

Dorman told the committee that federal funding and guidelines are needed for natural history studies, patient registries and other basic tools to make clinical research possible. And, she said the Food and Drug Administration (FDA) should institute a statement of policy on rare diseases and orphan products to reduce regulatory uncertainty and encourage researchers to develop treatments for diseases that have none.

She also urged the nation’s medical schools to enhance training on rare diseases. “NORD believes our nation is blessed with a caring and dedicated medical establishment,” she said. “But we urge a greater emphasis on rare diseases in medical education centers to prepare young clinicians to treat these diseases and encourage young investigators to study them.”

Dorman made her comments in invited testimony before a Senate Committee on Health, Education, Labor, and Pensions hearing on the topic, “Treating Rare and Neglected Pediatric Diseases: Promoting the Development of New Treatments and Cures.” The hearing was co-hosted by Committee Chair Senator Tom Harkin (D-IA) and Ranking Member Senator Michael B. Enzi (R-WY).

To address the lack of treatments, Dorman told the committee, NORD has launched several recent initiatives that offer hope for the future, working closely with FDA and the National Institutes of Health. These include:

• · a new training course and a handbook to prepare researchers for the special challenges of studying rare diseases
• · a task force to help NIH and FDA identify ways to work together more effectively and
• · a series of focus groups through which stakeholders—academic researchers, patient organizations, industry, and investors— share their views with NIH and FDA officials.

NORD is a non-profit organization representing all Americans with rare diseases. It was founded in 1983 by leaders of patient organizations and provides programs of education, advocacy, patient services and research.