37th Annual Hospital Hill Run

On June 5, 2010 Children’s Mercy Hospital had their 37th annual Hospital Hill Run that bears a lot of legacy in it’s longevity and fundraising for CMH!

This year I decided that I wanted to participate in the run for Brisan and Parker but for future events of Rare Diseases. I had never done anything like this before and remember thinking when I woke up at 5:30am on that Saturday morning, that I have officially lost my mind! Originally with another friend we were going to run the 10k which is around 6.25 miles. Knowing that I haven’t ran that distance all at once since high school I decided to go with the 5k (3.25 miles).

My training wasn’t spectacular although I had regularly been working out at 24 hr Fitness. My last outside running in distances was in August/September of 2009. The tread mill came in handy but to all amazement I only ran 3 miles twice for my training.

On the day of the event I felt really good and finished strong for not knowing what to expect. My goal was not to finish in 1st place but to just finish. My body felt really good after the race.

Next year our goal is to have the Niemann-Pick Children’s Fund on their site as a non-profit that others can help raise money for. I noticed that they did not have any that were targeting rare diseases. This will be a great way to help spread the message in our community especially but help generate awareness & education.

Niemann-Pick Type C (NPC) is a rare fatal genetic neurological disease that affects the cell’s ability to metabolize cholesterol. The domino affects end up destroying the nervous system along with other vital bodily functions that ultimately claim the life of the patient.

What is Niemann-Pick Type C?

Orphan Drug Designation for Cyclodextrin | NPC

This week the FDA has stated formally that they see promise in the use of Cyclodextrin in treating Niemann-Pick Type C (NPC) by granting its “Orphan Drug Designation”.

In January of 1983, the Orphan Drug Act (ODA) was passed into law in the United States with consistent pursuit by the National Organization for Rare Disorders. The ideal behind this is to encourage pharmaceutical companies to look into smaller markets with development of drugs for orphan diseases. Niemann-Pick Type C (NPC) certainly falls into this category (around than 500 diagnosed ever worldwide). The benchmark on how to determine an orphan disease is one that affects less than 200,000 people.

As Nadine Hill, director of family services of the National Niemann Pick Disease Foundation (NNPDF) stated in an email to families this week, “What exactly does that mean for our NPD community? It is important to emphasize that an Orphan designation does not make any assessment at all on how the drug works in clinical trials, whether it is safe or effective in patients, nor whether it will ever be commercially available – the Orphan designation’s main purpose is to make the development of the drug more financially viable for the developer.”

Chemical structure of the three main types of cyclodextrins.

Cyclodextrins are a sugar compound which was first described in 1891 by A. Villiers. Currently the food industry uses cycodextrins in preparing cholesterol free products. The concept is to help reduce the intercellular cholesterol that becomes the main culprit in NPC. By reducing the size of the lysosomes and in theory reducing cholesterol, it can help prolong the life of a child or adult suffering from the death sentence of NPC. Although there currently is no formal clinical trial, these actions are a step in the right direction. There still is a lot of unknowns and work that will need to take place.

Behind the push to get to this point is Chris & Hugh Hempel who has twin daughters suffering from NPC. In conjunction with other NPC families they formed their own Virtual BioTech they named S.O.A.R. (Support of Accelerated Research). Through the work of much collaboration, this has shown to help move research quicker.

As of today there is no known cure or effective treatment for Niemann-Pick Type C. The future outcome looks bright even though time is not on our side. The Niemann-Pick Children’s Fund looks to provide support in the areas of research, education/awareness, and family support through existing channels.

Read the WSJ.com story here: FDA Grants Mom’s Wish; Gives Orphan Drug Designation

To learn more please visit NNPDF’s website: http://www.nnpdf.org/Cyclodextrin.html