Sunday, December 4, 2022

Dementia in Children and Teens – When Kids Brains Regress Like The Elderly

March 21, 2010 by  
Filed under Alzheimers, Featured Stories

The Alzheimer’s Society and Alzheimer’s Association have lots of information on caring for people with dementia but no resources on their website for people caring for children, teens and young adults suffering from dementia. There are many kids who have dementia as a result of rare diseases even though most people think dementia strikes the elderly.

I know it’s hard to believe that six year old kids like Addi and Cassi have dementia but they do.  It can be very difficult to deal with dementia in children as they don’t remember (or can’t learn) that burners are hot, stairs are steep or cars come up and down the street.  Addi and Cassi were once potty trained and knew their nursery rhymes but then forgot what they learned as a result of their fatal genetic cholesterol condition that is destroying their brains.

As you can imagine, the thought of your children forgetting who you are is very distressing to parents.  There is a lot of grief and sadness and yet little support to deal with your kids losing their minds.

Here are some conditions in children that involve dementia:

  • Adrenoleukodystrophy
  • Alexander disease
  • Autism (Infantile)
  • Batten disease
  • Canavan disease
  • Juvenile Huntington’s disease
  • Metabolic diseases
  • Niemann-Pick Type C
  • Subacute-sclerosing Panencephalitis (SSPE)
  • Tay Sachs disease

The Niemann Pick Disease Group in the UK has written a guide to help parents, teachers and care professionals understand dementia in young people.  But we need more resources written and more educational efforts to bring attention to dementia in the young.  For example, how can school children cope with having a classmate who has a dementing disease like Niemann Pick Type C. Niemann Pick Type C children do have best friends that they may not remember in the future as their fatal condition progresses.

I am going to contact the Alzheimer’s Foundations to see if they are willing write a story about kids and dementia. Maybe if people knew this was happening to children they would care more about dementia or give more to dementia research.

Guidelines To Write and Submit an Orphan Drug Application For A Rare Disease

March 17, 2010 by  
Filed under Featured Stories

While working on our orphan drug application for Cyclodextrin for the treatment of Niemann Pick Type C disease, I searched the Internet looking for examples of an actual orphan drug application that was filed with the U.S. Food and Drug Administration.

Not surprisingly, I could not find any ‘real applications’ that could be used as a reference or starting point. Since most applications are filed by Pharma or BioTech companies, the applications are typically kept confidential.

Here is a PDF document of the actual orphan drug application we filed with the FDA a few weeks ago (it takes a minute to download as the PDF is large). I hope that the posting of our completed application will benefit someone else who is going through the application process and is not sure where to start.

Dr. Timothy Cote stressed at the FDA Orphan Drug Workshop at Keck Graduate Institute that too many companies over complicate the process and file volumes of data when it’s not really necessary. Making a request for orphan drug designation is a  simple process and the application can be 10 or so pages with backup material.

Things To Consider Before Filing Orphan Drug Application

Here are some key things I learned at the FDA Workshop on how to file for a request for orphan designation (RFD):

  • In 2009, 250 requests for orphan drug designation were filed with the FDA, and 160 received it.  According to the FDA, roughly 60-70% of applications result in granting of orphan status
  • Denials were generally as a result of not meeting rare disease prevalence requirements (ie. trying to submit for something that is not a rare disease or a subset of a larger disease)
  • Here is what you will need to be prepared to answer in your filing:
    • What is the disease and is the disease rare (less than 200,000 prevalence)?
    • Will your drug treat this rare disease?
    • Can you demonstrate that there is “promise” that the drug will be effective in treating the rare disease. According to the FDA, “promise” is liberally interpreted to include:
      • Data from clinical trials OR
      • Data from case studies/reports OR
      • Data from animal models OR (rarely)
      • Data from in vitro experiments
      • Theories are NOT accepted
  • Expect roughly 60 days to get a decision once you make a filing
  • A negative decision can always be overturned.  The record remains forever open according to Dr. Cote
  • If you receive a designation, you need to file an annual report each year to give an update on your progress. You can now file a single annual report with the FDA and EMA.  If we receive a designation for Cyclodextrin, I will write a separate blog on other requirements we will need to fulfill

Suggested Reference Materials

Here is some suggested reference materials that the FDA uses to guide people who call the FDA with questions on creating requests for orphan designations (RFD).

Dr. Cote told the group that the FDA’s Office of Orphan Products Development is there to help people with the process. I have had many dealings now with the staff at the FDA and they have been extremely helpful.

FDAs Orphan Drug Workshop Featured in Wall Street Journal – Push To Cure Rare Diseases

March 10, 2010 by  
Filed under Featured Stories

Below is a story that ran in today’s Wall Street Journal (Page A 3) on the FDA workshop I attended a few week ago at the Keck Graduate Institute in Claremont, CA.  We filed an orphan drug application for Cyclodextrin for the treatment of Niemann Pick Type C disease, an ultra rare cholesterol disease that afflicts our twins Addi and Cassi.

Amy Dockser Marcus, Pulitzer Prize winning health reporter, was at the FDA workshop and wrote a story about our filing which accompanies the main story on the FDAs Workshop for Orphan Diseases.  Thanks to Amy and the Wall Street Journal for giving Rare Diseases the attention they deserve!

The story in currently running online on the front page of the Wall Street Journal’s website.

At an FDA Workshop, a Mom Looks for Help


CLAREMONT, Calif.—Among the 14 groups at the Food and Drug Administration workshop that filed applications for orphan drug designation, Chris Hempel—part of a small team—stood out in her long-sleeved T-shirt and jeans.

The corporate potential applicants at the event tended to guard their own anonymity, but many couldn’t help ask Ms. Hempel who she was. “I’m a mom,” she replied. The FDA doesn’t require an applicant for orphan drug designation to be able to run a trial or make the drug, or even be a researcher.

Ms. Hempel attended the Feb. 25-26 FDA workshop along with Ron Browne, a scientist hired by a group of families with children who have a fatal cholesterol metabolism disorder known as Niemann-Pick Type C (NPC). In patients with NPC, cholesterol builds up in the tissues, leading to neurological decline and death, often before the age of 20. There is no cure. The families are kicking in around $700,000 a year to fund research into treatments.

Ms. Hempel sought orphan drug designation for a form of a compound called cyclodextrin. As The Wall Street Journal reported in April, Ms. Hempel received FDA permission to give experimental cyclodextrin infusions to her twin 6-year-old daughters, Addison and Cassidy, who have NPC. Ms. Hempel said since they started the infusions their swallowing and awareness has improved and they have had no side effects. It isn’t yet known whether the drug is doing that or if it is slowing down progression of the disease.

The Reno, Nev., mom says she hopes a designation could attract drug-company interest and put the parents in a better position to apply for FDA grants to conduct further research. Ms. Hempel asked Caroline Hastings, an oncologist who is the twins’ supervising doctor on the cyclodextrin infusions at Children’s Hospital & Research Center Oakland, to sponsor the application in hopes of being taken more seriously.

Ms. Hempel made it clear that she was there as a patient advocate. She had a hot-pink binder—her daughters’ favorite color—in which to file the application and documents. At the meetings with the FDA staffer, Ms. Hempel and Dr. Browne picked up an important tip: They were missing a required document—a cover letter written to Timothy Coté, director of the FDA’s Office of Orphan Products Development, and signed by the sponsor, Dr. Hastings. Ms. Hempel hastily tracked down the doctor and got her to FedEx a signed cover page.

Ms. Hempel won’t know for 60 days if the designation is approved but says the FDA staffer told her the application looked “solid.” She says the workshop helped “demystify the process.”

Write to Amy Dockser Marcus at

FDA Does Not Approve Actelion’s Zavesca in US – Distressing News For Niemann Pick Type C Community

March 9, 2010 by  
Filed under Featured Stories

Addi and Cassi's monthly dose of the drug Zavesca made by Actelion

Actelion, the makers of Zavesca, today put out a brief statement saying that the U.S. Food and Drug Administration did not approve Zavesca and wants more information from the company on treating Niemann Pick Type C, a rare and dementing neurological disease that afflicts our six year old identical twins, Addi and Cassi.

Niemann Pick Type C disease is caused by the inability of the body to process cholesterol at the cellular level and as a result severely destroys the brain and organs like the spleen and liver.

The FDA is asking Actelion for more pre-clinical and clinical information on Zavesca before it will approve the drug.  The drug has been approved in the European Union, South Korea, Brazil, Russia, Australia and Canada for adult and pediatric patients with Niemann Pick Type C disease.

I hope Actelion will continue to press forward and make the investment in Niemann Pick Type C disease after coming this far.

This is surely a setback for our entire community as many people have worked for years to push this drug forward and were hoping for FDA approval. Addi and Cassi have been taking Zavesca for two+ years and many NPC kids are showing moderate improvements. It would be devastating if we could not have our twins on this drug when data shows it provides a benefit.

This is a lesson learned for me. Now that I am pursuing Cyclodextrin as a treatment for Niemann Pick Type C disease, I need find out exactly what the FDA is looking for in the way of pre-clinical data. I want to make sure that the data we are gathering on Addi and Cassi’s today will be useful in the future.

I would like to understand what thee FDAs top five measurements of success are and what it takes to get a drug approved for an ultra rare disease that afflicts so few. I don’t want to get in front of an FDA panel five years from now only to be told we did not collect adequate pre-clincal and clinical data.

Social Security Disability ‘Compassionate Allowance’ – Only For Those Who are Impoverished?

March 5, 2010 by  
Filed under Health Care Policy

Today I called the Social Security Office in Nevada to find out about the compassionate allowance program for our twins. Last month, the Social Security Administration added 38 more conditions to the already 50 rare diseases and cancers designated for compassionate allowance, which provides expedited review of disability applications from people with severely disabling conditions. Niemann Pick Type C disease was added to the list and after reading the press release I assumed our children would qualify.

After navigating  through the Social Security automated voice activated phone system for 30 minutes and losing the connection, I finally managed to get through to a live person. In the State of Nevada, you can select a Social Security appointment by telephone or in person. I chose the telephone appointments. Apparently, we can’t set up back to back appointments so I made them for March 18th and 19th at 10:32am.  All appointments in our State are done at 2 minutes after the hour. Only the government could come up with such a thing.

I was told that each appointment would be 1 ½ hours long to fill out the information. I tried to explain that our applications will be identical except for one minor change – one application will say Addison and the other Cassidy.  Still two appointments (unless I decide cancel — I’ll get into this below).

Social Security had some quick questions for me – how much is our annual income (I could not recall the number on the phone) and do Addi and Cassi have siblings (No).  They also wanted to know if I am “working.”  I am not officially working a job outside the home but I do spend all my time “working” to find treatments for our girls and we spend a significant portion of our money/income on funding research and experimental treatments.  The call was all very vague but I made the appointments to get real facts on the program in order to share with others in my situation.

A friend of mine who has a child with a different lethal rare disease told me this morning that with her husband’s unemployment and her part-time job, they make the ‘big bucks’ and don’t qualify for the program. I was shocked. I guess you have to be completely impoverished to get any assistance — little to no income from what I understand.  I now want to find out the truth as to who gets what so that people are not wasting their time pursuing something they obviously don’t qualify for. If a family with three kids (one who is dying) and who are on unemployment and working part time jobs don’t qualify, who does?

When a major announcement is made in the media touting how the government is helping kids who are dying, they might want to put in a caveat that says, “you can only qualify if your parents make X amount per year.”  I am looking at spending 3 hours of my valuable time to find out we make too much money.  I am certain we are making too much money but the way they promoted the program made it appear that all qualify.  How many people is this program truly helping?  And why would they want to accept and process two applications from me?  What a total waste of government time and resources!

For many people applying for benefits, the Social Security Disability process is a slow one. Being awarded benefits can take many months, often years. I was told our case would be reviewed within 20 days of filing the applications. A typical time frame for review is 120 days. I was told the “child rate” in the State of Nevada is $674 (this is the maximum amount per child).  Who could live off of $674 a month and why not 675?

The National Organization for Rare Disorders (NORD) helped get the list expanded. I am going to contact NORD to see if they know what the income limitations are for this program and why the income number was not put into the press release.

If you have a rare and terminal disease and want to find out about the compassionate allowance program, click here to go to the SSA website.  They won’t tell you if you qualify. I suspect most people don’t.  I found a helpful State-by-State list of Social Security Offices on a Huntington’s disease website if you wish to pursue it.

In addition to Niemann Pick Type C disease, some of the newly added conditions for compassionate allowance include Ataxia Telangiectasia, Hurler Syndrome Type IH, Idiopathic Pulmonary Fibrosis, Neonatal Adrenoleukodystrophy, Sanfilippo Syndrome and Wolman disease.

Here is a quick list of the new Compassionate Allowance conditions:

  • Alstrom Syndrome
  • Amegakaryocytic Thrombocytopenia
  • Ataxia Spinocerebellar
  • Ataxia Telangiectasia
  • Batten Disease
  • Bilateral Retinoblastoma
  • Cri du Chat Syndrome
  • Degos Disease
  • Early-Onset Alzheimer’s Disease
  • Edwards Syndrome
  • Fibrodysplasia Ossificans Progressiva
  • Fukuyama Congenital Muscular Dystrophy
  • Glutaric Acidemia Type II
  • Hemophagocytic Lymphohistiocytosis (HLH), Familial Type
  • Hurler Syndrome, Type IH
  • Hunter Syndrome, Type II
  • Idiopathic Pulmonary Fibrosis
  • Junctional Epidermolysis Bullosa, Lethal Type
  • Late Infantile Neuronal Ceroid Lipofuscinoses
  • Leigh’s Disease
  • Maple Syrup Urine Disease
  • Merosin Deficient Congenital Muscular Dystrophy
  • Mixed Dementia
  • Mucosal Malignant Melanoma
  • Neonatal Adrenoleukodystrophy
  • Neuronal Ceroid Lipofuscinoses, Infantile Type
  • Niemann-Pick Type C
  • Patau Syndrome
  • Primary Progressive Aphasia
  • Progressive Multifocal Leukoencephalopathy
  • Sanfilippo Syndrome
  • Subacute Sclerosis Panencephalitis
  • Tay Sachs Disease
  • Thanatophoric Dysplasia, Type 1
  • Ullrich Congenital Muscular Dystrophy
  • Walker Warburg Syndrome
  • Wolman Disease
  • Zellweger Syndrome

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