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.

———————————————————————————————————————————

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

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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

Please participate on 10-10-10 for a $10 donation online to the NNPDF. They are truly doing some great things and we are thankful to be able to have them around.

Take the NPD 10 – 10 – 10  Challenge!
Please Help Raise Awareness for Niemann-Pick Disease

Intriguing dates such as 10/10/10 don’t come around all that often, and it seems fitting to proactively observe this once-in-a-lifetime occasion, especially since it falls during

October National Niemann-Pick Disease Awareness Month!

Participating in the NNPDF Central Office Challenge and showing support for the many families coping with Niemann-Pick Disease is one simple way you can mark the day by making a positive difference.   With just a few minutes of your time, you can help raise awareness and funding for all whose lives are affected and cut short by Niemann-Pick Disease.

Our 10-10-10 Challenge is to get 300 people to share information about Niemann-Pick Disease with 10 other people, via email, Facebook, Twitter, or other means (even via the hospitable old-fashioned way, face-to-face!).

Spreading the word about this rare disease is key to raising the essential funding for research which will find the treatments and cure we all work fervently toward, and to providing important family services for those who rely on us.

Here are some simple ways you can help families affected by Niemann-Pick Disease on 10-10-10:

1. Create awareness of NPD by forwarding this message to 10 (or more) people in your email address book.
2. Post this message (or your own message about Niemann-Pick Disease) to your Facebook page or blog.  Post a link to the NPD Awareness Facebook page (click the Facebook icon on the NNPDF Home page at www.nnpdf.org).
3. “Tweet” about NPD and share the NNPDF Web site address:  www.nnpdf.org
4. Take a group of friends out for coffee or dessert.  Tell them about NPD and the devastating effect it has on families.  (We will be happy to supply newly updated brochures for your use, just contact us.)
5. Donate $10 for NPD on 10-10-10 and encourage your friends and family to do the same.  Most of us spend at least $10 a week on discretionary items (snacks, soda, a movie, fast food).  Ten dollars doesn’t seem like a whole lot of money, but when many people each give ten bucks, it adds up!  Donations may be mailed to the address above, or made online via our Web site:  www.nnpdf.org.
6. Encourage 10 contacts to check out our NNPDF October Awareness Online Auction!  Bid high, bid often!  http://www.biddingforgood.com/nnpdf/2010
7. Get a “leg up” on your holiday shopping by purchasing ten of the darling new 2011 Puppies Calendars, “Treasuring Each Day.”  These calendars raise funds for the NNPDF’s essential research program and important Family Support Services.  For more details and to order, click here.

Thank you very much for your help and continued generosity, on 10-10-10 and always!
Those who live with the challenges of Niemann-Pick Disease need and truly appreciate your kindness and support, today and until the cure is found.  Together, we will Persevere in Our Quest for a Cure!

Together, we can make a difference!

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2. Promising Therapies for Niemann-Pick Type C Disease
3. Canada Receives First Approved Treatment For Niemann-Pick Type C

Watch the video below and please share!

Summary edit of the Hollie and Annie films from sue lowe on Vimeo.

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In comparison to Niemann-Pick Type C Disease (NPC), it has maybe less than a 100 people currently living in the U nited States. Many sources state that 500 cases have been diagnosed ever worldwide. That’s not exactly as common of disease as Alzheimer’s.  NPC is described as a genetic degenerative neurological  disorder that mostly strikes during childhood that stores fatty lipids in the brain, liver, spleen, and bone marrow because of the cells inability to metabolize cholesterol. Although uncommon, adult onset can take place with NPC. Outcome is also fatal with no cure.

Whether it is Niemann-Pick Type C Disease (NPC) or Alzheimer’s, they are extremely saddening to experience as a loved one. One affects mostly older adults and the other strikes predominantly in adolescents. Regardless, a main symptom in each disease is progressive Dementia along with similar pathological features that include the loss of intellectual function.

The question seems to arise often regarding why would you refer to Niemann-Pick Type C Disease (NPC) as the “Childhood Alzheimer’s” when they are technically two separate diseases? Touche’, great point Dr. Watson. My wife Jennifer absolutely hates when the two are referred to one another. I on the other hand am absolutely fine with the comparison and title.

When you tell someone about NPC, they kind of give you that “deer in the headlights” look along with the “side head nod” like a puppy. For any of you in sales or marketing the first thing you are taught is to make an impact statement to gain attention or some type of understanding of what your speaking about. When you say the “Childhood Alzheimer’s” people can instantly relate to someone or to a situation where they’ve heard about Alzheimer’s or Dementia.

Overall if you explain in a way tha t they are two separate diseases that share some similarities, you should be able to paint a mental picture for your audience. In no way do I feel by using this reference that it confuses nor threatens anyone. Just explaining what NPC is, is confusing enough. How can you make it any more confusing for people? Seriously.

You as a parent are the biggest advocate for your children. We need to let people know about this horrible disease. I believe it holds keys to other diseases affected by the storage of cholesterol in cells. Please visit our website www.NPCFund.org or my family’s personal page www.BriParDun.com.

Photo used under Creative Commons from Sharron Goodyear.

Related posts:

1. Dementia in Our Kids – The Uninvited Thief
2. Why Rare Diseases OUR Important
3. FDA says Hold Off on Zavesca (Miglustat) approval.

Serge Melancon, M.D., Montreal Children Hospital, commented: “Health Canada’s approval of Zavesca(R) (Miglustat) for the treatment of Niemann-Pick Type C disease is a wise choice and is very good news for patients and their families. Until now, no drug was effective against the neurologic manifestations associated with this debilitating familial disease. Canadian physicians will be without a doubt happy to have this therapy, which is already recognized in Europe and elsewhere around the world, to relieve their patients’ symptoms. As a clinical geneticist who has been dedicated to treating rare hereditary diseases for several years now, it is my fervent hope that the provinces will follow Health Canada’s lead and facilitate access to Zavesca(R) for patients who have already been diagnosed with this disease.”

Zavesca has shown some hope of relieving to a certain degree symptoms of Niemann-Pick Type C (NPC) and it’s devastating effects on families loved ones.  As the United States still isn’t completely convinced that it is ready to receive the FDA’s seal of approval, 75% of US families affected by NPC are not able to participate in the drug’s potential benefits due to non-FDA approval.

Jean-Paul Clozel, M.D. and Chief Executive Officer of Actelion commented: “I am very proud that Actelion – together with the scientific community – has been able to demonstrate the role of Zavesca(R) in reducing the progression of clinically relevant neurological symptoms in patients with NP-C. I would like to thank both the patients and their families who, over the years, have been involved in our clinical program with so much dedication, as well as all the clinical experts for their continuous support. Actelion will continue to support the rare disease community in its efforts to advance science and medicine for the patient.”

Overall this is great news and exciting in so many ways. All though this is a small step in the right direction, it is important to note that the ultimate cure or treatment for Niemann-Pick Type C (NPC) will possibly be a “cocktail” of remedies to treat its multiple symptoms.  Families must keep hope alive in their communities, government, and hearts that by persistent in many different facets that one day a rare disease like Niemann-Pick Type C (NPC) will open up doors to many other common diseases.

Persistence, it’s contagious.

Press Release Canadian Approval of Zavesca March 2010

Additional Information Regarding This Topic:

1. http://www.benzinga.com/pressreleases/m187674/zavesca-r-miglustat-first-treatment-available-in-canada-for-rare-progressive-n
2. http://www.marketwire.com/press-release/Zavesca-Miglustat-First-Treatment-Available-Canada-Rare-Progressive-Niemann-Pick-Type-Swiss-ATLN-1136457.htm
3. http://finance.alphatrade.com/story/2010-03-23/CCN/201003231315CCNMATHWCANADAPR_0594289001.html
4. http://www.nnpdf.org/npdisease_09.html

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Dementia, who was the thief that thought up this bright idea? Sorry honey, what did you say again? OK that might be a case of selective hearing. We’ve all have had family or known people who have suffered with this horrible symptom. When you mention dementia, Alzheimer’s comes to mind or we all tend to think of an elderly person with their hands on their head not able to remember out of frustration pounding the table with their fists. STOP!… WAIT!… Did you know our children can suffer from dementia too?

I recently read a post from another family who has twin girls with Niemann-Pick Type C (Addi & Cassi Hempel) and it prompted me to finally put some of my thoughts down on “paper”. I agreed so much with what was wrote on that blog post that I couldn’t wait any longer. Niemann-Pick Type C is just one of many diseases that dementia plays a critical role in the quality of life that children/ young adults will have. I think about our caregivers, teachers at school, and even our children’s peers that are uneducated about dementia who could benefit from understanding the signs. They would be more equipped to cope and manage someone with dementia, especially our precious little ones who we love so much.

“Our lives are made in these small hours, these little wonders, these twists and turns of fate. Time falls away, but these small hours still remain.”

-Rob Thomas-musician

Dementia causes a loss of memory, confusion, issues with speech and language, changes in mood or behavior, loss of building new skills, losing their appetite and having the ability to complete simple tasks. Being a parent of Brisan and Parker Stults who has Niemann-Pick Type C, you learn to deal with a lot of patience. It’s not an easy task but with education you can better equip yourself to handle this additional burden. For instance with Parker we notice restlessness, unable to sleep at night, and very repetitive with phrases or just words. To most parents that can become pretty annoying!   The underlying issue is due to dementia but backed by their horrible disease Niemann-Pick Type C. It’s such a sad reminder that they only have a childhood to live a lifetime yet they’ll never remember it.

I read a website recently that said “dementia doesn’t happen to children”. That is false because of the stigma placed with this topic. Dementia is an uninvited thief who holds nothing back. Just remember children can have dementia to and this isn’t just an elderly issue. Find the education you need to bring awareness to your community about this issue.

Dementia in children, teenagers and young adults A guide for parents, teachers and care professionals

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It has been almost 13 years in July 2010 that the NPC1 gene, on Chromosome 18 for Niemann-Pick Type C was shared with the world on its discovery. This was a huge step and monumental discovery with associating cholesterol with a certain gene/chromosome at that time. To arrive at this point, it took decades of work which shed an abundant light into how a cell metabolizes cholesterol. In short, Niemann-Pick Type C causes progressive deterioration of the nervous system by blocking the movement of cholesterol within cells.

From a press release dated July 10, 1997 from Bethesda, MD:

“This discovery is an excellent example of how research on rare brain disorders often pays off in other ways,” says Zach W. Hall, Ph.D., Director of the National Institute of Neurological Disorders and Stroke (NINDS). “By identifying this gene, we not only take a crucial step forward in understanding this devastating disorder, but also gain insights into problems that affect every one of us.”

In 2001, cardiovascular disease was responsible for more than 39 percent of all deaths in the United States (American Heart Association: Heart Disease and Stroke Statistics 2004). Atherosclerosis is a disease where plaque builds up in your arteries. We all know those aren’t important to our lively hood at all. OK, just joking but plaque is made up of fat, calcium, cholesterol, and other substances found in our blood that over time builds up but hardens in the passage ways of our arteries. Imagine if you’re driving through a two way tunnel but one side is now closed off?  It would be kind of hard to get through to the other side in a timely and relaxing manor with additional objects in your way? Just like that situation, this affects how we get our blood to important areas in our bodies. With millions of people dying each year, this is a huge number of people. What if Niemann-Pick Type C could provide some insight?

Other diseases such as Adult onset Alzheimer’s, Stroke, Cystic Fibrosis, Duchenne Muscular Dystrophy, and even HIV-Aids will benefit from the research into Niemann-Pick Type C. Did you know that children can experience dementia to? Crazy to imagine because most of us think that only our elderly family members get that! With the combination of deaths due to these diseases, could you imagine if we had a more collaborative research environment? Unfortunately big companies aren’t going to sacrifice revenue opportunities to help a blip on the radar screen but they will invest if they see it helping thousands of people; this means a return on their investment. This reality is sad but true.

Rare diseases OUR important to you, me, and everyone we know. Each of us has a Chromosome 18 that is vital to us being a living human being.  I encourage you to help out in some way. That could be donating to several charities that fund research for NPC like the National Niemann Pick Disease Foundation, Ara Parseghian Medical Research Foundation, Hide and Seek Foundation or the Niemann-Pick Children’s Fund. That could be becoming and advocate in lobbying our government for better health care. It could be you just passing the word and spreading awareness.

We all are in this together and have been affected in some way by one of the diseases mentioned in this post. One person can make a difference in the world and that person could be you.

Additional Resources:

• http://www.lef.org/protocols/heart_circulatory/coronary_artery_disease_atherosclerosis_01.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.strokecenter.org/patients/stats.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.cdc.gov/nchs/FASTATS/deaths.htm

*All pictures belong to their respective parties.

Related posts:

1. FDA says Hold Off on Zavesca (Miglustat) approval.
2. New therapies – Niemann-Pick type C disease
3. Social Security Adds 38 New Medical Conditions that Qualify for Disability

On March 9, 2010 the FDA has requested additional preclinical and clinical information regarding Zavesca (Miglustat) before giving the ultimate approval that the Niemann-Pick Type C community was hoping for. Actelion stated that they will work diligently with the FDA to explore the best ways to address the points raised by the agency.

Jean-Paul Clozel, M.D. and Chief Executive Officer of Actelion commented: “We remain committed to bringing an approved treatment to patients suffering from NP-C disease and in this spirit we will continue the dialogue with the FDA.”

Currently Zavesca (Miglustat) is FDA approved for type 1 Gaucher disease when enzyme replacement therapy is not an option. The milestone that this really entails for the NPC community is the ability for patients who’s insurance companies will not approve for off label use because it is not FDA approved for NPC. That means right now there are probably half of the patients in the United States that are simply unable to give it a go for their loved one(s).

When dealing with the FDA you have three options generally that will take place after submitting information for FDA approval:

1. An Approval Letter
2. A Non-Approval Letter (Sorry don’t pass go)
3. A Complete Response Letter (Not yet, we want more info)

Actelion received number three, a Complete Response Letter which allows the pharmaceutical company to continue to explore and collect data which might more clearly show the positive impact that the drug has on the treatment of the disease (Niemann-Pick Type C).

Currently the European Union, South Korea, Brazil, Russia, Australia and Canada, Zavesca® is indicated for the treatment of progressive neurological manifestations in adult and pediatric patients with Niemann-Pick type C disease.

If you are a parent of a child/adult with Niemann-Pick Type C, we encourage you to write Actelion or the National Niemann Pick Disease Foundation regarding the findings and/or benefits you feel your loved one has experienced from this.   The power of people and especially a parent because you are the only one that will ever fight the hardest for your child.

Read the full press release here: http://www1.actelion.com/en/our-company/news-and-events/index.page?newsId=1392243

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2. Historic FDA related drug advisory committee will meet | Zavesca
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Social Security adds 38 new medical conditions that qualify for disability help.  The new conditions range from early-onset Alzheimer’s disease to rare diseases that primarily affect children which includes Niemann-Pick Type C!

Personally this seems like a relief for so many families. One of the goals of the Niemann-Pick Children’s Fund is how can we directly impact families especially with this kind of disease. That of course is a huge task that seems daunting at times. There are so many other rare diseases out there that are equally devastating besides NPC. It is heart wrenching to know that there are so few options.

Approximately 15 million Americans have rare diseases for which there still is no approved treatment and no research in progress. What that tells us is that leaves a lot of families carrying a burden of hopelessness!

Here is a snippet from the article: read more here

This is the first expansion since the original list of 50 conditions – 25 rare diseases and 25 cancers – was announced in October 2008, according to the announcement yesterday by Michael J. Astrue, Commissioner of Social Security.

The complete list of the newly recognized medical conditions that clearly qualify patients for Social Security and Supplemental Security Income disability benefits – Compassionate Allowance conditions – is below.

“The addition of these new conditions expands the scope of Compassionate Allowances to a broader subgroup of conditions like early-onset Alzheimer’s disease,” Commissioner Astrue said.

“The expansion we are announcing today means tens of thousands of Americans with devastating disabilities will now get approved for benefits in a matter of days rather than months and years.”

The quick identification of these conditions allows the agency to electronically target and make speedy decisions for the most obviously disabled individuals.

In developing the expanded list of conditions, Social Security held public hearings and worked closely with the National Institutes of Health, the Alzheimer’s Association, the National Organization for Rare Disorders, and other groups.

“The diagnosis of Alzheimer’s indicates significant cognitive impairment that interferes with daily living activities, including the ability to work,” said Harry Johns, President and CEO of the Alzheimer’s Association.

New Compassionate Allowance Conditions

1.                  Alstrom Syndrome

2.                  Amegakaryocytic Thrombocytopenia

3.                  Ataxia Spinocerebellar

4.                  Ataxia Telangiectasia

5.                  Batten Disease

6.                  Bilateral Retinoblastoma

7.                  Cri du Chat Syndrome

8.                  Degos Disease

9.                  Early-Onset Alzheimer’s Disease

10.              Edwards Syndrome

11.              Fibrodysplasia Ossificans Progressiva

12.              Fukuyama Congenital Muscular Dystrophy

13.              Glutaric Acidemia Type II

14.              Hemophagocytic Lymphohistiocytosis (HLH), Familial Type

15.              Hurler Syndrome, Type IH

16.              Hunter Syndrome, Type II

17.              Idiopathic Pulmonary Fibrosis

18.              Junctional Epidermolysis Bullosa, Lethal Type

19.              Late Infantile Neuronal Ceroid Lipofuscinoses

20.              Leigh’s Disease

21.              Maple Syrup Urine Disease

22.              Merosin Deficient Congenital Muscular Dystrophy

23.              Mixed Dementia

24.              Mucosal Malignant Melanoma

25.              Neonatal Adrenoleukodystrophy

26.              Neuronal Ceroid Lipofuscinoses, Infantile Type

27.              Niemann-Pick Type C

28.              Patau Syndrome

29.              Primary Progressive Aphasia

30.              Progressive Multifocal Leukoencephalopathy

31.              Sanfilippo Syndrome

32.              Subacute Sclerosis Panencephalitis

33.              Tay Sachs Disease

34.              Thanatophoric Dysplasia, Type 1

35.              Ullrich Congenital Muscular Dystrophy

36.              Walker Warburg Syndrome

37.              Wolman Disease

38.              Zellweger Syndrome

For more information about the agency’s Compassionate Allowances initiative, go to www.socialsecurity.gov/compassionateallowances.

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