November 5, 2011

NPC claims the life of a special boy

In Loving Memory of Gavin Lopez
Gavin, Johnathan, Dillion, and Tylor
I had the opportunity to meet Gavin and his family in Virginia at the Niemann Pick family conference. They are a wonderful family and Gavin was such a sweet little boy. I only wish I got to spend more time with this family. On October 30th Gavin lost his fight with NPC. Here are video clips from the Doctors taken just a few months ago.

Gavin and His Mothers Heartbreaking Story

How NPC affects the body

Exciting News

Members of the NPC team....THANK YOU!

Dear families and friends of the NPC community,

There has been a large, collaborative effort to initiate a cyclodextrin clinical trial at the National Institutes of Health (NIH) to systematically evaluate the safety and efficacy of cyclodextrin therapy for the treatment of Niemann-Pick type C (NPC) disease. As many of you are aware, we met with the Food and Drug Administration (FDA) this past Tuesday, November 1, 2011, to discuss the development program for cyclodextrin

The exceptional work that has been done in NPC animal models has guided the design of a human clinical trial. Together with the Therapeutics for Rare and Neglected Diseases (TRND) group at the NIH, as well as several NPC researchers, Johnson & Johnson, and consultants from RRD International, LLC, we are working to submit an Investigational New Drug (IND) application to FDA.

The first step in submitting the IND application to FDA (the perquisite to an initial clinical trial in patients) was to request a pre-IND meeting with FDA to receive the Agency’s feedback on our development program before the IND application is officially submitted. On November 1 we met with the FDA review division staff to discuss the proposed development plan for cyclodextrin and needs for the IND application package. The meeting was positive and the Agency provided helpful feedback focusing on the drug safety and toxicology data. We will have an additional meeting with FDA to focus on the clinical trial design, and FDA is working with us to get that meeting scheduled before the end of the year.

We view this as a very positive step toward pursuing cyclodextrin as a potential treatment for NPC disease. We are planning a scientifically rigorous trial that will allow us to test cyclodextrin in our patients safely and in a way that will provide as much information as possible. While specific details of the trial will not be available until we have agreement from FDA and approval from the NIH ethics review board, we will share information with the NPC community as it is available.

We continue to work toward our goal of starting the trial next year and feel that with the recent FDA feedback, we are on track to do so.

Thank you for your continued support and encouragement as we work together to find a treatment for NPC disease. This fight would not be possible without all of you.


The TRND Team

Where did the time go?

Hello Everyone,

I haven't posted an update on Tylor in a while and I finally found some time to get on the computer to do it. Well it has been busy around here for starters I started a new job at Edwards Cast Stone Company as a part time Drafter so we have been trying to get things down around the house. Tylor had his Special Olympics Bowling tournament a few weeks ago, he got third place. His first game he got three strikes in a row....and there were no bumpers up! I can't even do that with the bumper up! He starts practicing for his Special Olympics swim meet on Monday at school. Every Monday they get to spend an hour in the pool, lucky guy! School has been going well. He loves to make people laugh and hang with his friends. He has a new friend, Brandon. Brandon is in the Life Skills program with Tylor and he loves to help Tylor. I picked Tylor up the other day for therapy and as I was loading Tylor Brandon yelled wait and he kissed his head! Tylor keeps touching the lives of others where every he goes.  He is also working on using the DynaVox during school to help communicate with the teachers and his classmates. The DynaVox is a communication device that is setup to Tylor's needs.

We also have been working closely with Notre Dame and have been sharing Tylor's medical records, pictures, and videos. They are working on rare and neglected diseases and NPC is at the top of the list! After reading through all the records they will compile all the information into a 2 to 3 page medical summary. They are also working on putting together a website for doctors who are struggling with diagnosing a patient. We have been in touch on a weekly basis and through email. They are almost done with Tylor's summary.

Tylor, Jill, and I will be traveling to NIH December 4th through December 9th. Tylor will be part of a Clinical Investigation. This is not to provide treatment for NPC but rather to evaluate a series of clinical and laboratory tests that might be useful in a subsequent study to determine if an investigational drug is effective in slowing the progression of NPC. Unfortunately for Tylor he will have all prior tests done again. Here are some of the tests that will be done; Blood draws, urine collections, lumbar puncture, MRI, psychological testing, hearing evaluation, skin biopsy, and genetic analysis are some of them. He will be sedated for the MRI, lumbar puncture and the skin biopsy so he won't be in pain. He just gets really sick after sedation. We are looking forward to this trip and hope that some how Tylor's results can help aid in the research effects at NIH. We will be posting update throughout that week.

So as you have read we are busy around this house and it is only to get crazier with the Holidays quickly approaching.

A Blast from the Past

Tylor's old para from Jefferson dropped off some pictures of Tylor and I have to share some of them. He looks so young! It's hard to believe my little boy is now a young man.

This is Joyce, the para who gave us the pictures

Sam, Tylor and Gabby then
Gabby, Tylor and Sam now.