What is Neimann Pick Type C disease?

NPC is a progressive neurovisceral genetic disorder that occurs in 1 in 150,000 births. 80% of affected patients are children, but 20% are adults at the time of diagnosis. NPC predominantly results in neurological difficulties, often initially presenting as problems with co-ordination and eye movements, and over time affecting walking, swallowing and memory. Children often develop seizures and significant learning problems with illness progression. A significant proportion of adult patients develop a mental illness, and this is often the first sign of the disease.

There is currently no treatment in Australia for NPC, and most patients are treated symptomatically for their difficulties with movement and swallowing, and for associated problems (such as psychiatric illness or seizures). Some promising medications are in use overseas for sufferers of NPC, and ultimately research is aimed at preventing illness onset and progression so that people affected with NPC can lead healthy and normal lives, as at present there is no cure for NPC Disease.

Dr. Mark Walterfang
Consultant Neuropsychiatrist
Neuropsychiatry Unit
Royal Melbourne Hospital

Friday, October 15, 2010

FDA Approves Request For New Cyclodextrin Treatment For Niemann Pick Type C

Cyclodextrin Infusion bottles - We'll now mix cyclodextrin in saline and put smaller amount into Addi and Cassi's Central Nervous System to bypass the blood brain barrier

FDA Approval Received!
Children’s Hospital Oakland Receives FDA Clearance to Begin World’s First Cyclodextrin Administration Into the Brains of Twins with Rare and Deadly Cholesterol Disease
Sugar Molecule Used In Common Food and Household Products Like Febreze® Fabric Refresher Called Hydroxypropyl Beta Cyclodextrin (HPßCD) Will be Delivered into Twins’ Central Nervous System in an Attempt to Stop Neurological Progression of Niemann Pick Type C Disease
September 23, 2010 – Oakland, Calif. – Children’s Hospital & Research Center Oakland announced today that the US Food and Drug Administration (FDA) has granted clearance of an Investigational New Drug (IND) application to introduce Trappsol® Cyclo™ (Hydroxypropyl Beta Cyclodextrin or HPßCD) into the brains of six year old identical twin girls dying of a rare brain-destroying cholesterol disease called Niemann Pick Type C (NPC). Known as “childhood Alzheimer’s,” NPC is a deadly progressive neurological condition that causes severe dementia and other debilitating symptoms in children. The FDAs approved use of Trappsol® Cyclo™ marks the first time in medical history that HPßCD will be delivered directly into the brain of a human being in an attempt to arrest a progressive and fatal neurological condition.
Within days, Addison and Cassidy Hempel will travel from their home in Reno, Nev., to Children’s Hospital Oakland to start ongoing injections of Hydroxypropyl Beta Cyclodextrin (HPßCD) into their central nervous systems. Initially, the twins will receive six cyclodextrin treatments of Trappsol® Cyclo™ via lumbar injection over a 12-week period. If Trappsol® Cyclo™ is well tolerated and no adverse side effects occur, the twins are then expected to undergo brain surgery to implant access ports allowing HPßCD to be delivered into the brain’s ventricle system.
HPßCD is a ring of seven sugar molecules known as a cyclic oligosaccharide that is derived from starch. Derivatized cyclodextrins are used extensively in research labs to remove cholesterol from cultured cells and are well known in the pharmaceutical industry for their ability to solubilize drugs. Underivatized cyclodextrins are used throughout the food industry to make cholesterol-free products, such as fat-free butter, eggs and milk products. HPßCD is recognized as a GRAS (Generally Recognized As Safe) material for use in food products in Asian and European countries and is being considered for similar certification in the United States. Hydroxypropyl Beta Cyclodextrin, the chemical compound that will be administered into the twins’ central nervous system, is also an active ingredient found in Procter & Gamble’s Febreze® Fabric Refresher and is used to help eliminate odors from fabrics. Millions of people worldwide are exposed to small amounts of cyclodextrin compounds every day in food, cosmetics and household products.
“It is remarkable to be in position to try a genuine medical intervention that may retard or restore neurological function in children suffering from Niemann Pick Type C disease,” said Caroline Hastings, MD, the Children’s Hospital Oakland pediatric hematologist/oncologist who diagnosed the twins. Dr. Hastings also manages the satellite hematology/oncology clinic at Renown Regional Medical Center in Reno where the girls receive much of their treatment. “This family’s tremendous courage to move forward with this groundbreaking treatment to deliver cyclodextrin into the brains of their twins provides real hope for all children afflicted by this mind-robbing condition and possibly others suffering from cholesterol and lipid related disorders.”
In April 2009, the FDA approved an Investigational New Drug protocol that allowed Addison and Cassidy Hempel to undergo weekly intravenous infusions of Hydroxypropyl Beta Cyclodextrin into their bloodstreams through a Medi-Port catheter implanted in their chest walls. However, research conducted by David Begley, PhD, a leading blood-brain barrier expert at Kings College London, discovered that Hydroxypropyl Beta Cyclodextrin does not cross from the bloodstream into the brain. While the Hempel twins have shown improvements with ataxia and have less difficulty swallowing following intravenous intervention with HPßCD, they continue to decline neurologically and there are no other treatment options available to save their lives. The twins have lost most of their ability to speak and are experiencing intermittent seizures and dementia; however, the girls can still walk, see, and communicate to their parents with a range of sounds and gestures.
On June 13, 2010, Dr. Hastings filed a revised protocol to the Hempel twins’ Investigational New Drug applications with the FDA requesting permission to deliver Trappsol® Cyclo™ directly into the central nervous system of the twins in order to bypass the blood-brain barrier. Researchers studying Niemann Pick Type C afflicted cats and mice have discovered that when HPßCD is delivered directly into the brains of these animals, HPßCD has a remarkable life extending effect and appears to arrest the progression of this deadly neurological condition. It is currently unknown exactly how HPßCD is working to achieve these astonishing neurological effects in NPC animals or if it will have the same effect in humans.
For Chris Hempel, mother of the twins, the start of cyclodextrin treatments into the central nervous system of her twins “creates new hope that was unimaginable even a few years ago for an ultra rare disease with a certain death sentence.” Since receiving the NPC diagnosis in October 2007, Ms. Hempel has worked tirelessly with doctors and researchers around the world to search for a lifesaving treatment for her twin daughters. In May 2010, she worked with Dr. Hastings to receive one of the few orphan drug designations granted by the FDA for the compound Trappsol® Cyclo™.
“It’s extraordinary to think that a sugar compound used in common products found in my refrigerator and laundry room could have such a profound effect on human cholesterol metabolism and may actually save our daughters lives,” said Hempel. “We are incredibly grateful for the support we have received from the medical, regulatory, pharmaceutical, and academic communities who have worked to help us bridge the scientific gap and turn a treatment idea into a treatment reality.”
Approximately 500 children worldwide have been diagnosed with double genetic mutations on the Niemann Pick Type C cholesterol gene, yet what scientists learn about these children may have implications that reach far beyond this ultra rare genetic cholesterol disease. Recent published research reports of the role for the NPC1 gene in Alzheimer’s disease and human immunodeficiency virus infection (HIV) make Niemann Pick Type C disease and gene research relevant to millions of people worldwide.
Source: http://addiandcassi.com/fda-approves-request-cyclodextrin-treatment-niemann-pick-type/

Sunday, October 10, 2010

Merchandise Page up and running....

Hi Everyone,

Just a quick note to let you all know that the Australian NPC Disease Foundation Inc website now has NPC merchandise for sale!

At the moment it is only set up for Australian shoppers, however until I sort out the international side, our overseas shoppers can still order simply by emailing mandy@npcd.org.au or sharon@npcd.org.au

Check it out HERE

Happy shopping


Cycle 4 Sam - Shining his star... Part II

Matty & Timmy Lloyd chat with Marty before the start of day 2
Mandy & Paul checking out the day's route.
A quick riders briefing before the team head off
Releasing 21 pink balloons in memory of Cassie Stallard RIP
Paul & Mandy Jacobs lead the team through town in the Truck
On their way..... great effort by all concerned, fantastic to meet you all!

Monday, September 27, 2010

Cycle 4 Sam - Shining his star.....Part 1

A few photo's from the Cycle 4 Sam Benalla leg of the ride from Bright to Adelaide. It was wonderful and inspiring to meet Sam Roberts's family and the Cycle 4 Sam team as they began their 2010 journey.
A screening of Sam's NPC documentary "Shining his Star" was emotional viewing for all whom attended the dinner at the Benalla Golf Club on the evening of the team's arrival to Benalla.

Awaiting the arrival of the cyclists from Bright

Cyclists heading into Benalla just ahead of the rain

The Cycle 4 Sam team with NPC sufferer's Kirsten & Matthew Smith and Timmy & Matty Lloyd

The Smiths, Jacobs & Roberts families all meet at last

At the screening of Sam's moving documentary

Wednesday, July 28, 2010

Shining His Star....

The Sam Roberts Family fund third "Cycle 4 Sam" event is approaching and this time it is in our local area.
On September 27, 2010 Cycle4Sam III will be held, a 1200km bike ride from Bright in the Victoria high country, to Adelaide, via Bendigo, the Grampians, and Robe.
Some 40 cyclists will stop overnight in Benalla to celebrate the launch of  the documentary "Shining His Star"
The documentary is about the story of Sam Roberts and how his brave fight with a rare genetic neurological disease, Niemann-Pick Disease Type C, inspired his family and friends to create the “Sam Roberts Family Fund” and the Cycle4Sam epic bike rides.

After the dinner & screening, the riders will head off on their Journey Tuesday morning with local NPCD sufferer's Matthew & Timmy Lloyd leading the charge... stay tuned for updates & photo's.

The dinner & screening will be held at the Benalla Golf Club, Monday 27 Sept 2010 at 7pm. Tickets are $25 per head. Please contact Mandy Jacobs 0409 573 740 with enquiries.

It's been a while.....

So much has been happening since our last update it's hard to know where to start.
Lets talk about the NPCD Pamper Day held in Wodonga first......

WOW..... what a day, we can comfortably say that the day was a success with the people of Wodonga exceeding our expectations with their level of support! Huge big thank you to all the Hairdressers, Make Up Artists, Massuers, Nail Artists, Face Painters, Tarot Card Readers, Wine, Liquer & Cheese Tasting, Photographers, Stall Holders and the amazing volunteers.

We had the most amazing bunch of Ladies purchase tickets and allowing themselves to be pampered, everyone was in great spirits and a great day was had by all :)

Here are some shots from our wonderful photographers :)

Once the Pamper Day had wound down we were full steam ahead into dinner preparations.

Mark Byatt (Wodonga Mayor) along with Matthew & Kirsten Smith, Timmy & Matty Lloyd cut the magnificent NPCD cake, which was later shared with guests as part of the meal.

With a fantastic DJ on board, great music pumped through the speakers and the dancing began. Auctions, giveaways and raffles finished off a great night.

Stay tuned for more updates and upcoming events.

Tuesday, May 18, 2010

1.00PM TO 5.30PM

1.00PM TO 5.30PM

6.30PM TO 11.30PM.

Discounts apply when attending both events. Ladies and Gentlemen all welcome at dinner event. All proceeds go to the Australian NPC Disease Foundation to assist in "Persevering to find a cure for NPC Disease" in Australia and to aid families dealing with Niemann Pick Type C Disease.

Enquiries and bookings to: Mrs Sharon Fanning 0409428396
or Mrs Mandy Jacobs 0409573740

Donations are welcomed at our ANZ Bank account....

BSB NUMBER: 013525 ACCOUNT NUMBER: 572292555


****all donations above $2 are tax deductible... Please contact the foundation for your receipt requirements****************

Wednesday, May 12, 2010

Radio interview on NPC Disease (abc Radio)

Radio interview conducted on the run up to the Wodonga Ladies Pamper Day and Dinner, broadcasted across the North East and Goulburn Valley of Victoria. Radio compare was the lovely Gaye Pattison interviewing Mandy Jacobs (President of Australian NPC Disease Foundation) and Sharon Fanning (Fundraising Coordinator)


Monday, April 26, 2010

Albury Wodonga Midweek Express - 21 April 2010

In the lead up to the Wodonga Pamper Day we are pleased to have the support of the Albury Wodonga Midweek Express. The exposure is invaluable in creating awareness for NPCD within our local communities.

Thursday, January 14, 2010

Zavesca/Miglustat update from US FDA Panel shows some hope for Australia

UPDATE 2-US FDA panel backs new use for Actelion drug
Tue Jan 12, 2010 5:31pm

Stocks Regulatory News Healthcare
* FDA decision due by March 10
* Agency usually follows panel recommendations (Adds panelist, company comments)
By Lisa Richwine
SILVER SPRING, Md., Jan 12 (Reuters) - A U.S. advisory panel on Tuesday recommended approval of an Actelion Ltd (ATLN.VX) drug for treating a rare disease that often kills patients in their teens after fats accumulate in their organs.
A Food and Drug Administration advisory panel voted 10-3 to recommend approval of Actelion's Zavesca pill for patients with a condition called Niemann-Pick type C disease (NP-C).
Europe's largest biotech company already sells Zavesca in the United States for another rare disorder, type 1 Gaucher disease.
Panel members who supported the drug said there were signs Zavesca would help patients with NP-C even though the drug failed to meet the main effectiveness goal in a company study.
"The risk from the drug is not devastating, but the disease is devastating. I think patients deserve an opportunity to see if they can benefit," Katherine Flegal, a senior research scientist at the Centers for Disease Control and Prevention, said.
Actelion is trying to cut its dependence on Tracleer, a drug that treats a rare heart and lung disorder and brings in more than $1 billion a year. Zavesca sales through the first nine months of 2009 were 38.3 million Swiss francs ($37 million).
Doctors can prescribe Zavesca now for NP-C, but Actelion needs FDA clearance to market the drug specifically for that use. Patient advocates also said insurers are reluctant to pay for the drug for NP-C patients without the approval. The drug costs $159,000 a year per patient.
NP-C, which has no approved treatment in the United States, causes cholesterol and other fats to collect in the brain and various organs. That leads to impaired brain function, lack of muscle control, slurred speech and eventually death. Symptoms usually develop around age 10, and most patients die within five to 10 years of diagnosis.
Just 500 patients worldwide are known to have the disease, including about 200 in the United States, Actelion said.
Zavesca, or miglustat, was designed to block the action of an enzyme involved in producing the fats that cause problems in NP-C.
But the drug failed to meet the main goal in a 29-patient study comparing it to a placebo on measurements of eye movements that Actelion said were a sign of the disease's progression.
The company argued that other findings from surveys of NP-C patients who had been treated with Zavesca showed the drug slowed or stabilized problems with swallowing, walking and speaking.
That type of data is considered less reliable than findings from clinical trials. Actelion, however, said the improvements showed the drug was working because NP-C patients without treatment will get worse over time.
"This is a relentlessly progressive disease," Dr. Isaac Kobrin, Actelion's chief medical officer, told the panel.
"We clearly see a change in the progression rate (with Zavesca). It's a very clear signal," he said.
Actelion said risks such as diarrhea were manageable and outweighed by benefits. FDA reviewers said some NP-C patients had reduced growth and lower levels of blood platelets. Actelion said it would urge monitoring of those issues.
The FDA usually follows panel recommendations when deciding whether to approve medicines. A decision is due by March 10.