The NNPDF does a wonderful job of keeping families and people interested up to date on how things are progressing in the disease community for Niemann-Pick Type C. You can visit updates on their page here: http://www.nnpdf.org/aboutus_14.html

Cyclodextrin

A few families have taken a different approach in individually seeking the approval of the FDA to start an individual trial. Some of their hard work contributed in helping promote the upcoming Cyclodextrin trial.  Cyclodextrin could be one of many therapies needed in the future to help NPC patients manage the disease progression.

Letter From TRND

Dear families and friends of the NPC community,

The collaborative group planning a cyclodextrin clinical trial at the National Institutes of Health (NIH) for the treatment of Niemann-Pick type C (NPC) disease met with the Food and Drug Administration (FDA) on Tuesday, December 13, 2011 as a follow up to the recently held November pre-IND meeting.  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.

Representatives from 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, participated in this meeting.

While the November meeting focused on the drug safety and toxicology data, the purpose of the December meeting was to discuss the proposed clinical trial design.  Overall, the feedback from FDA was very positive and their comments and guidance will assist us in the generation of an IND application that is agreeable to FDA, thus allowing us to move forward with the initial clinical trial as soon as possible.

Preclinical toxicology and safety studies in animals are ongoing, and additional studies will be initiated shortly.  These required nonclinical studies will guide the selection of drug doses for the initial trial and will provide essential safety information.   In the upcoming months, we will be evaluating these study results and will incorporate them into the  IND application and initial clinical protocol, which will then be submitted to FDA and the NIH Institutional Review Board (IRB).  Once we have agreement from FDA and approval from the NIH IRB, we can share the specific details of the initial clinical trial, such as patient inclusion/exclusion criteria.

We are very excited about the progress we have made thus far and are encouraged by our recent meetings with FDA.  We understand that the community is eager to start this initial trial as soon as possible and we do not have time to waste.  Following the meeting, we believe that FDA shares our sense of urgency and we are grateful that they are willing to work closely with us to get this important initial trial started.  As always, your support of NPC research is the final piece that will help us impact this disease.  Thank you for your enthusiasm, your patience, and especially for trusting that we are making every effort to help individuals and families affected by NPC.

The TRND Team

Press Release:

NIH Therapeutics for Rare and Neglected Diseases Program announces next round of drug development projects

Related posts:

1. Potential Breahthrough in Niemann-Pick Type C Research
2. Orphan Drug Designation for Cyclodextrin | NPC

Karen Quandt is the Board Chair for the NNPDF.org.  A few years back she was completing a study about neurodegenerative disease in family members of patients with Niemann-Pick Type C (NPC). There differently is a relationship between NPC and other diseases. At this given time ,the current discoveries  that scientists  are making to further develop treatments  for NPC are providing critical insights into our understanding relating to a few of the most common diseases that have been shown to be debilitating to life.

Thank you Karen for allowing us to share.

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NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN

Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C

Final Progress Report – Lay Summary

Thank you to all the families that participated in my recent research survey. Thanks also go to the National Niemann-Pick Disease Foundation, The Niemann-Pick Disease Group of the United Kingdom and to the Ara Parseghian Medical Research Foundation, all of whom assisted with this survey. Today I closed the survey titled, “Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C”.

Here is a summary of the results:

• 57 families answered the survey
• 29 families had a family member with another neurodegenerative disease- 50.9%
• 28 families did not have a family member with another neurodegenerative disease – 49.1%
• Summary of other neurodegenerative diseases that the families have in their health history:
• 17 cases of Alzheimer disease- in 14 different families
• 8 cases of Amyotrophic lateral sclerosis-(Lou Gehrig’s disease) – In 6 different families
• 8 cases of Parkinson disease
• 4 cases of Multiple Sclerosis – in 3 different families
• 2 cases of Huntington Disease- in the same family
• 1 case of Multiple System Atrophy
• Several families had 2 different neurodegenerative diseases in their family health history.

I discussed the findings of my recent Niemann-Pick type C (NP-C) family health history survey of neurodegenerative diseases with Dr. Ellen Sidransky and Joie Davis, nurse practitioner, both of whom work at the National Institutes of Health.

Dr. Sidransky and Joie are interested in investigating the possible association of Parkinson’s disease, ALS (Lou Gehrig Disease) and Alzheimer’s disease (diagnosed before the age of 65), present in the families who also have a relative with NP-C.

Thank you,

Karen Quandt, RN,MN

http://www.nnpdf.org/familyservices_15.html

Related posts:

1. Video: What is Niemann-Pick Type C disease? Can you share?
2. Orphan Drug Designation for Cyclodextrin | NPC
3. Canada Receives First Approved Treatment For Niemann-Pick Type C

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

Related posts:

1. Historic FDA related drug advisory committee will meet | Zavesca
2. UPDATE 2-US FDA panel backs new use for Actelion drug [Zavesca]
3. FDA says Hold Off on Zavesca (Miglustat) approval.

Hello NNPDF Families and Friends,

NOTE: Deadline of Monday, December 28th, 2009

We have received word of an important and historic FDA related drug advisory
committee meeting which is to be held in Maryland on January 12th, 2010 ,
which will review Zavesca as a possible treatment and therapy for
Niemann-Pick Disease Type C. An advisory committee panel of medical and
clinical experts will gather together to review information and learn the
data particulars as it relates to the use of Zavesca in NPC patients.

A segment of this meeting protocol allows for the participation of the
public to submit written impact statements on the use of Zavesca ~ we would
like to encourage our NPD Type C family membership to take part in this
portion of the meeting. With that in mind we have developed an
informational sheet and suggested letter guideline to assist those who wish
to submit a written testimonial.

Please refer to the foundation NewsLine for more details pertaining to this
event at: http://www.nnpdf. org/aboutus_ 14.html

No related posts.