June 28, 2011

More news on Cyclodextrin

Results in Mice May Help Shape Clinical Trial for Children With Rare Fatal Disease

By Amy Dockser Marcus

It’s a well-known maxim in science that curing a disease in a rodent doesn’t guarantee the same results in a human being. But new research on using the drug cyclodextrin in mice is likely to help shape a clinical trial being planned for children with a rare and fatal genetic disease.

Scientists led by John M. Dietschy at the University of Texas Southwestern Medical School just published a paper in the Journal of Neuroscience on continuous cyclodextrin treatment for Niemann-Pick Type C, a fatal neurodegenerative condition in which cholesterol builds up in tissues and organs. The treatment not only kept mice alive but prevented the cognitive decline that is one of the hallmarks of the illness.

When delivered directly into each rodent’s central nervous system via the spinal column in order to better reach the brain, cyclodextrin “completely prevented the expected neurodegeneration,’’ the authors wrote.

The paper’s publication is especially propitious because the NIH announced earlier this year that it plans to start a clinical trial treating NPC patients with cyclodextrin, hopefully some time in 2012. One of the key issues still being discussed is whether to deliver the drug directly into the central nervous system (as was done with the mice in the paper) or through an infusion into a vein that carries the drug into the general circulatory system.

The new paper will fuel and shape that ongoing debate. It found that delivering cyclodextrin directly to the brain requires lower doses and appears to be more effective in reversing the cholesterol defect than infusions into a vein.

“It will be a very influential paper in the field,” scientist Daniel Ory tells the Health Blog. Ory ought to know: he is the principal investigator on an NIH grant focused on getting cyclodextrin from the lab into NPC patients. He’s also working closely with NIH’s Therapeutics for Rare and Neglected Diseases program, which selected NPC and cyclodextrin as one of its pilot projects to attempt to repurpose drugs for use in rare diseases.

Dietschy, who has published a number of previous papers on cyclodextrin and NPC, acknowledged that continuous, life-long administration of the drug into the central nervous system using a pump isn’t easy — even in a mouse. In children, surgery is required to install, remove, and replace pumps, and the devices can become infected. Still, Dietschy says, if more data and studies back up the findings, he believes the technical obstacles can be overcome by surgeons.

Rumors about the paper’s findings were already creating a buzz among some in the NPC patient advocacy community even before it was published. In May, the National Niemann-Pick Disease Foundation, an advocacy group, sponsored a teleconference with Ory and NIH clinician Denny Porter to discuss the planned cyclodextrin trial.

In response to a question by a parent asking about the possibility of doing a trial using the delivery method described in the Dietschy paper, Porter said that there would be additional regulatory hurdles involved since it is a “huge jump in risk or risk-benefit ratio” to think about delivering the drug directly to the brain rather than through a vein.

Ory tells the Health Blog that investigators want the most efficient delivery method, but also one that can be rapidly moved into the clinic. He says the risks of injections into the spinal column, could potentially slow down the opening of a trial. Still, he agreed that the paper’s findings will inform the discussion.

One human experiment is already underway in twin girls with NPC, who have been receiving cyclodextrin infusions under the FDA’s compassionate use program.

Chris Hempel, the mother of the girls, Addison and Cassidy, tells the Health Blog they will submit a protocol for hospital approval to install a pump in each girl’s spine that will start delivering continuous cyclodextrin infusions to the brain.

Hempel says she closely follows Dietschy’s research, reading each paper. “As more research comes out, we can modify’’ the approach,” she says.

Dietschy says it’s too early to tell how or if the new results will be applied to patients. In the meantime, he says he plans to observe a colony of mice receiving continuous infusions to see how they progress. Researchers are still working on the technical issues but Dietschy says he can’t help but wonder: Will mice treated this way go on to live a normal life? And if so, could children?

Photo: Associated Press
**Taken from the Wall Street Journal Health Blog**

Rare-disease studies seek online giving

Website invites micro-donations for unusual illnesses.
Amber Dance

Those wanting to raise awareness about a rare disease will be able to take advantage of an initiative being launched later this year: a website that connects research projects with members of the public who can donate just a few dollars to help to develop cures.

The plan, called the Global Genes Fund, will "democratize the research proposal game", says Irwin Feller, an emeritus professor of the economics of science and technology at Pennsylvania State University in University Park.

The idea has been developed by the Children's Rare Disease Network, a non-profit organization based in Dana Point, California. The network plans to set up a test site by the end of 2011, with a formal launch in 2012. Potential funders will be able to choose from projects with funding goals of US$10,000-150,000. The fund will post proposals that are deemed by its committee to be likely to succeed within three to five years — that is, within the often-short lifetimes of people currently affected by the diseases.

Rare, or 'orphan', diseases are defined as those that afflict five or fewer people out of every 10,000 in the European Union or fewer than 200,000 Americans. The diseases are devastating but overlooked. Pharmaceutical companies are naturally interested in blockbuster drugs that will be taken by many people, whereas governments are often perceived as focusing their limited resources on more common conditions.

There is some funding: for example, in 2009 the National Institutes of Health announced US$24 million for the Therapies for Rare and Neglected Diseases programme to developing medicines for orphan diseases. But there is simply not enough money to support research on all rare diseases. There are some 7,000 orphan diseases affecting an estimated 350 million people worldwide. Of those, 75% are children, says Nicole Boice, founder and chief executive of the Children's Rare Disease Network. Parents often shoulder the burden of advocacy, running cake sales and other fund-raising events to support research.

Many hands
With the Global Genes Fund, Boice hopes to raise money and awareness to a level that is impossible for individual parents and scientists. She was inspired by the success of microloan website Kiva.org. On Kiva, users browse a list of individuals worldwide who need a small loan to pay for business expenses, home improvements or other projects. Through loans of as little as $25, Kiva has raised $22 million since it was founded in 2005.

The Global Genes Fund will solicit money for defined short-term projects, Boice says. For example, it might support whole-genome sequencing for a child with an undiagnosed disorder. Or it might pay for children with a rare condition to travel to a trial centre.

The fund will also seek corporate sponsorship. Those larger gifts will help to cover projects that don't receive sufficient micro-donations, Boice says.

"It's not just the funds, it's the awareness" that the fund will raise, says Audrey Gordon, president and executive director of the Progeria Research Foundation, based in Peabody, Massachusetts. The foundation is a non-profit organization that promotes the study of progeria, which causes rapid ageing. The global nature of the new fund means that more families affected by rare diseases will find others dealing with the same problems, advocates say.

"There's a serious lack of funding for these various rare diseases," says Chris Hempel, a Reno, Nevada-based advocate and mother of twin girls who have Niemann–Pick type C disease also referred to as 'childhood Alzheimer's'. "We're all in the same boat and no one's getting drugs."

Regarding the fund, "I think it's an extremely interesting project", says Steve Groft, director of the NIH's office of rare disease research. "It will meet the needs of some of the rare-disease-community members." Even a tiny $50,000 pilot trial could give researchers enough data to apply for more funding, he adds.

**Taken from Nature News**

June 9, 2011

Dad raises £100k for son's life saving drug

Jun 9 2011 By Lucy Cork, Buckinghamshire Advertiser

AN 'EXHAUSTED' super dad has finished a 925-mile cycle ride from Land's End to John O'Groats, raising a huge £100,000 for a drug that could save his son's life.

David French, of Ledborough Lane, Beaconsfield, set off on Friday, May 27, with supportive team-mates, after months of training and fundraising. It has been his way of giving his family 'hope' for the future.

Mr French's son William, nine, was diagnosed with Niemann-Pick Disease, Type C (NPC), a crippling and very rare degenerative disease also known as childhood Alzheimer's, when he was six months old. Only 80 people in the UK are known to have the disease.

The money raised through this cycle challenge will go directly to applying for a UK trial of a life-saving drug that is currently only available in America.

Mr French said: "This is what my wife Sue and I are now turning our attention to.

"It has been quite a trip and we never dreamed of raising £100,000. Now we have more work to do for William."

William's condition means that he cannot deal with the everyday challenges of life. He needs help getting dressed, eating meals and almost anything involving motor skills.

A determined Mr French cycled for 10 days, which included a multi-bike pile-up on day eight, resulting in a somersaulting rider, 24 hours of constant rain and three broken wheels. The hard work came to an end at 3.33pm on Sunday, June 5.

The intrepid team, including Jeff Corrigan, Graham Rogers and Jeremy Tipper, were joined by William for the final few miles, who rode alongside in a pull-along bike.

Mr French said: "It was such a great feeling to finish by seeing about 30 friends and family cheering and clapping. The support we have received has been incredible. It is a fantastic feeling.

"Nine years on and the NPC world has seen a huge investment of research funds, particularly in the US and that is beginning to pay dividends.

"We very much believe in his future and are determined to do all we can to make that a reality."

Researchers compare notes on deadly nerve disease

Researchers from all over the world are meeting on Notre Dame's campus this week. The group is discussing developments in the research of Niemann-Pick Type C disease.

NPC is a genetic disorder that causes your nervous system to deteriorate, which eventually affects your ability to move, speak, and process information. FOX28 News sat down with some of those scientists to discuss the research they're doing and the progress they've made so far.

Biology Professor Kevin Vaughan says developing a counter to the disease begins with identifying what causes it in the first place. "Without knowing what the problem is, it's hard to design drugs specifically to overcome the problem," explains Vaughan.

Norb Wiech with pharmaceutical company Lysomics says they are in the preliminary stages with the FDA of testing a drug that may slow the deterioration process. "All these ideas can't come to be meaningful unless get the information or use the information to develop a drug to treat them," says Wiech.

Notre Dame is involved with this research through former coach Ara Parseghian, who lost three of his grandchildren to Niemann-Pick Type C. His family established the Parseghian Medical Research Foundation in 1994 in hopes of finding a cure for the fatal disease.

On Monday Notre Dame Dean Greg Crawford will start a 2200 bike ride from Boston to Dallas to spread awareness. We'll have more from them Friday night at 10.

Road to Discovery

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June 06, 2011
By South Bend Tribune Staff Report

SOUTH BEND -- University of Notre Dame science dean Gregory Crawford and his wife, Renate, will embark on a second cross-country bicycle ride to raise money for medical research.

The Crawfords will use the ride to support research seeking treatments and a cure for Niemann-Pick Type C (NPC), a rare and deadly neurodegenerative disease that primarily strikes children.

The couple will depart Monday on "Road to Discovery," a 2,200-mile ride from Boston to Dallas.

The Crawfords last summer biked 2,300 miles from Tucson, Ariz., to Notre Dame to celebrate Notre Dame's strengthened partnership with the Ara Parseghian Medical Research Foundation, a nonprofit organization dedicated to funding medical research projects to find a treatment for NPC and related disorders. Notre Dame's former head football coach Ara Parseghian lost three grandchildren to NPC.


June 4, 2011

First Camping Trip of 2011

Tylor went on his first camping trip of the year on Memorial Day weekend. We had a blast! He met a lot of new friends, did arts and crafts, rode is bike, and sat by the fire. We had to stay in the camper Sunday morning because of the rain but after that we took Ty out in his wheelchair for some mud boggin'. And boy did his wheelchair get dirty...oh well it just goes to show we can fun in the sunshine or rain!!

Blake and his bull frog he found.

Tylor didn't care much for the frog

The kids painting

Taking a nap

I asked Tylor if he wanted to get in the mud too but he said NO WAY

Ty crashed Saturday night

Tylor and Bono relaxing while we packed up to leave

Great Job Tylor

Tylor had a dentist appointment a few weeks ago and he did so good. Most of you are probably saying come on everything Tylor's been through the dentist should be a piece of cake.....that's not the case. He hates getting his teeth cleaned and them looking around in his mouth. He has a very sensitive gag reflex so going to the dentist is not much fun except for this time. This time we left him in his wheelchair and just reclined it back. He did great and he was pretty relaxed. Plus no cavities!!!

June 3, 2011

Ducks afloat for NPC

TURLEY — Ducks for Bucks is a non-profit organization created in memory of Breann Chavez who passed away at the age of 3 from Niemann-Pick Disease. Families faced with NPD are faced with a small window of time with their sick child.

Ducks for Bucks was created to help alleviate some of the financial burden these families face so they can focus on enjoying the few years they have with their child. Ducks for Bucks 2011 will take place at Wines of the San Juan, from noon to 5 p.m. on Saturday.

This is a family fun day filled with live music, games, raffles, silent auction, food, wine tasting and entertainment for kids of all ages, along with the annual Dainty Duck Dash, a rubber duck race with chances to win cash prizes.

Niemann-Pick Disease is a term for a group of diseases which affect the metabolism and which are caused by specific genetic mutations. NPC is a genetic disease in which the body does not break down cholesterol and instead stores it inside major organs - like liver, spleen and brain. This storage leads to many complications both physically and neurologically and begins to deteriorate the bodies of the young victims it attacks.

The three most commonly recognized forms of the disease are Types A, B, and C. The National Institutes of Health has referred to NP-C as “childhood Alzheimer’s” because of the neurological similarities between the two diseases.

At this point, there is no cure for NPD. All cases are fatal, which makes time incredibly valuable to these families.

For most families facing Type C, neurological symptoms begin appearing between the ages of 4 and 10, with children appearing completely normal until this point. Generally, the later neurological symptoms begin, the slower the progression of the disease.

Once the neurological breakdown begins the body follows. These children lose all mobility; they lose their ability to speak, play, and even eat, leaving many of them to get their nourishment from a feeding tube.

Many suffer with seizures, and other pains they cannot express, leaving caregivers constantly guessing. The vast majority of children die before the age 20 and many die before the age of 10.

NPD is a genetic disease in which both parents must be carriers for their child to become affected with the disease. Each child has a one in four chance of having NPD.

Due to the late onset of the disease, many parents do not realize they are taking this risk until it is too late, resulting in many families with multiple children dying from NPD.

Ducks for Bucks is recognized by the IRS as a public charities non-profit and does have a 501(c)(3). All money raised goes directly to helping families with whatever their greatest need is at the time.

For some that means medical bills, co-pays, and equipment. For others it is just unexpected daily living expenses due to their child’s illness. Those not abe to attend the race in person may purchase a rubber duck for $5 online.

Although you will not physically receive your duck, it will be entered in the Dainty Duck Dash for a chance to win $1000 cash for the first place duck.

$500 will be awarded for second place and $250 for third. Winners do not need to be present to win.

Visit the website to start your duck in training today for the big race.

For more information, call (505) 632-7649 or go to http://www.ducksforbucks.org/

**Taken from the Farmington, New Mexico Daily Times**