This article is from the www.nnpdf.org website. We simply wanted to share the information verbatim.

Dr. Porter writes:

Dear families and supporters of the NPC community,

We would like to inform you of a new therapeutic trial that was approved this week by the NICHD IRB. The name of this study is Biomarker Validation for Niemann-Pick Disease, type C: Safety and Efficacy of N-Acetyl Cysteine. This study still has to be reviewed by the FDA, but we are hopeful that we will be able to start enrolling patients this September.

Many of you are familiar with the ongoing NPC natural history study at the NIH. As a result of this study, we have identified some promising biomarkers. Some of these biomarkers are related to oxidative stress, which leads to damage in the cells of the body. We would now like to move to the next step and begin to validate the use of these biomarkers. This clinical trial will hopefully lay the groundwork for future therapeutic trials.

This new trial will allow us to both validate these biomarkers and begin to study the ability of N-Acetyl Cysteine (also called NAC) to treat the oxidative stress caused by NPC. NAC is an antioxidant that has been safely used in a variety of medical conditions in both young children and adults. In this study, we will use an effervescent tablet that will be dissolved in water or another clear liquid and taken by mouth three times a day. This will be a blinded, randomized, placebo-controlled cross-over trial. A cross-over trial means that means that each patient will receive NAC for an eight week period and placebo for an eight week period. The placebo does not have any NAC in it, but looks and tastes like the NAC tablet. Blinding means that patients and/or parents will not know the order in which the patient is receiving the NAC or placebo during the study.

We will ask participants to come to the NIH for four outpatient visits over five months. The first admission will be a two day visit and the other three visits will require only one day. Each visit will include a history and physical exam, fasting blood draw, urine collection and a quality of life questionnaire. We will also ask patients to have blood drawn at home and sent to the NIH. Our goal is to have 30 patients complete the trial.

There will also be two “washout” periods of four weeks each, during which neither NAC nor placebo will be given. We will ask patients to discontinue any supplements or medications except for miglustat (Zavesca) or those prescribed by a physician for the treatment of a medical condition other than NPC (such as seizures, ADHD, etc.) for the duration of the study. This is the only way that we can accurately evaluate the efficacy of NAC in NPC. Other supplements such as curcumin, CoQ10 and others could interfere with the study. We just can’t get good data if there are too many uncontrolled variables.

When a new potential treatment becomes available in a rare disease like NPC, it can be very tempting for families to try it on their own rather than in a formal trial, especially one that includes a placebo. One reason for using a cross-over design was to make sure every patient received the drug during the trial. We understand this urge to try these treatments independently. However, if too many parents/patients choose to do this, we will never be able to get good information on drugs that are “off-the-shelf.” This ultimately will make NPC clinical research more difficult and slower.

The NPC Natural History study has been more successful in the past three years than we ever could have imagined. This was only possible with the incredible support from the NPC families that participated and the NPC community as a whole. We will need continued participation to move this effort forward.

Please call or email Nicole Yanjanin at (301) 594-1765 or nyanjanin@mail.nih.gov if you would like more information about the study or if you are interested in participating. In addition, both of us will be attending the Seattle NNPDF meeting and will be able to answer questions.

Sincerely,

Denny Porter and Nicole Yanjanin

[July 9, 2009 mem]

Mike Is Looking For Employment

What can I really say? I am unemployed as of this week and that seriously endangers a lot of very important things to our family. I also wouldn’t imagine I would be writing about this situation pertaining to myself.

Currently there are several million people following in these shadows of unemployment. I recall thinking to myself before reality set in that I hope I don’t head down that road anytime soon!  HELLO!  I woke up on July 7th, headed into work and that reality took place finally that afternoon after we all attended a company meeting that six of us would be leaving the company officially on July 15th.

I remember telling Jennifer before our trip to Disney World (June 7, 2009) that I had a feeling this was a possibility even though the company was in good financial standings. It just seemed like you could smell it in the air. Some of you might not know what exactly I do but I am a business development professional for the online marketing and advertising world.  I had a peace about it all if it turned out to be my head on the chopping block because I know things will be OK.  Now I do not know what that “OK” looks like but I have faith it will be OK.  In our industry it comes down to technology. If technology hits a wall and isn’t working properly…it doesn’t matter what skills you have to drive in new business, your simply not delivering the agreed upon actions to make revenue. That’s the bottom line. The results as follows and you can not keep taking net losses.

This could be a blessing in disguise! What will be important during this process and outside of this situation is to allow God to do the driving of what direction he wants my career to take. We all sometimes try to take the steering wheel at times. OK, I can’t pull your chain here.  I am worried to a certain degree.  I just pinched myself because I just discovered for the millionth time that I am human! I feel there is so much to loose…house, insurance, and our basic livelihood.  Knowing that Brisan and Parker depend on our insurance to take care of their medical needs is certainly important but now the part will be how do we afford the Cobra payments? How do we pay the mortgage in the mean time?  We do know that a subsidy is available to make the Cobra payments look much better (not that they are cheap)!

Duncan, Parker, & Brisan

My attitude and outlook I believe are positive and I know that a bigger and better opportunity for my family is awaiting my skills that I have been blessed with.  A good friend of the Niemann-Pick family suggested that we put a list of needs on the front page of www.BriParDun.com.  She simply stated that in order for people to help they need to know what your exact needs our.  Me and Jennifer felt shied by the idea of it.  On the other hand it would be foolish of ourselves to think that we don’t need to ask for help.  I think asking for help when it is truly needed is very difficult because our society teaches that your a failure if you can’t do it on your own.

As Jennifer takes care of all the doctors visits and schedules of these events we have learned that Dr. Porter of the NIH would like to get Duncan’s DNA sequencing retested because he feels it wasn’t done properly to begin with last August/ September 08′. Then we are informed by Humuna that they do not want to pay for it because it has already been done.  Well duh! We could have guessed that!  I wonder how many millions of dollars in mistakes take place because of medical billing & coding errors?  What we have been told is they didn’t completely do the sequencing.  Duncan has his own issues and they are suspicious that he isn’t also affected with Niemann-Pick Type C.

Brisan Deep In Thought

We thank you for all your prayers. We thank you for any help you have given us in the past, present, and future. We feel that we are not able to give back sometimes but we really have been shown genuine love!  In the coming few weeks we will work on posting a list of our specific needs as a mutual friend in the NPC community has suggested on the front page of the boys’ website. If your able to help in anyway whether that be employment opportunities or simple things that could help us alleviate some stress for our family we would be beyond humbled for your actions.

Brisan and Parker Stults – What is NPC?

Researchers Identify Cholesterol-Regulating Genes

Posted on: Tuesday, 7 July 2009, 16:05 CDT
Scientists at the European Molecular Biology Laboratory (EMBL) and the University of Heidelberg, Germany, have come a step closer to understanding how cholesterol levels are regulated. In a study published today in the journal Cell Metabolism, the researchers identified 20 genes that are involved in this process. Besides giving scientists a better idea of where to look to uncover the mechanisms that ensure cholesterol balance is maintained, the discovery could lead to new treatments for cholesterol-related diseases.

“This finding may open new avenues for designing targeted therapies, for example by looking for small molecules that could impact these genes,” says Heiko Runz, whose group at the University Clinic Heidelberg carried out the research together with Rainer Pepperkok’s lab at EMBL.

High levels of cholesterol in the bloodstream are a major risk factor for atherosclerosis and coronary heart disease, one of the leading causes of death in developed countries today. Nevertheless, cholesterol is an important cellular component: 90% of the cholesterol in our bodies is inside our cells, where it does not cause any harm
. Blood cholesterol levels are partly regulated by cells taking up cholesterol from the bloodstream, a process Runz and his colleagues are helping to unveil.

The researchers deprived isolated human cells of cholesterol and then looked at the whole genome to find the genes that react to changes in cholesterol levels by altering their expression. This large-scale approach pointed to hundreds of genes which might be involved in cholesterol regulation. To check which genes really were involved, the scientists used a technique called RNA interference to systematically turn each of the candidate genes off. With a microscope they then observed what effect switching off different genes had, both on cholesterol uptake and on the total amount of cholesterol inside cells.

Of the 20 genes the scientists identified as involved in regulating cholesterol levels and uptake, 12 were previously unknown. The remainder were known to have some link to lipid metabolism – how the body breaks down fat – including two genes that when mutated may cause heart disease, but which were only now shown to also play a part in bringing cholesterol into cells in the first place.

The scientists are now trying to discover exactly how the novel genes regulate cholesterol levels inside cells, as well as looking at patients to determine whether these genes (or alterations in them) do constitute risk factors, and investigating if and how they could be useful drug targets.

This discovery could help fight not only heart disease, but also other conditions, as one of the genes identified appears to influence the behaviour of NPC1, a protein involved in the neuro-degenerative Niemann-Pick disease.

The research was conducted under the Molecular Medicine Partnership Unit (MMPU), a collaboration between EMBL and Heidelberg University. “It is very convenient to have such a close partnership here in Heidelberg”, says Rainer Pepperkok from EMBL, adding, “it allowed us to use the sophisticated techniques and technology from EMBL to answer questions that first arose at the University clinic, whose clinical aspects will now help in the follow-up.”

Researchers Identify Cholesterol-Regulating Genes

Faith In The Storm - Stults Family

(This was published in late 2008)

Faith in the storm

Childhood Alzheimer’s.

A genetic disorder so rare that Brisan and Parker Stults were the first cases ever diagnosed by Children’s Mercy Hospital in Kansas City. Only about 100 people are living with it in the country and 500 worldwide.

But it’s the new reality for the children’s parents, Mike and Jennifer Stults of Grain Valley. They also have another son, Duncan, 8 months, who does not have the disorder. Both Brisan, 4, and Parker, 2, have Neimann-Pick Type C (NPC), which has been referred to as Childhood Alzheimer’s because of its gradual effects. Because of NPC, the boys’ body cells don’t metabolize cholesterol and other fatty lipids, causing a progressive accumulation that chokes their brain cells. There is no cure. Most children with the disorder only live a few years.

Jennifer said she nearly passed out when she heard the diagnosis in August. ?We would probably be lost if we didn’t have our faith in God,? she said. ?I don’t know that I could do the daily stuff if I didn’t have faith.?

She said people have asked her if she’s mad at God. ?I don’t think I’ve thought about turning my back on God,? she said. ?We have to believe our kids are dying for a purpose – we just don’t know that purpose. I am a firm believer in everything happens for a reason, and most of the time, it’s not for my gain; it’s for somebody else?s.

?There could be another NPC family we could help in the future, or maybe my children’s deaths will result in a new piece of information for doctors to gain a better understanding of the disease to help other children. I don’t know what the purpose is, but I have to believe there is one.?

Her grandmother, Celia Carnes of Kansas City, inspired her to action after the boys’ diagnosis. ?My grandmother told me I have two choices: I can wallow in despair and be of no use to my children, or I can pick myself up by my bootstraps and do everything I can to make their lives better,? she said.

Jennifer, 23, who cares for the children while her husband, 26, works as an Internet ad salesman, drives the boys to multiple therapy appointments during the week. She and Mike worked with his insurance to approve the use of a trial drug that may slow the progression of the disease. They recently learned insurance will pay for the drug, which for both boys amounts to $160,000 a year.

That was huge news for the Stultses, who also just learned that Brisan will need to start wearing a helmet because the condition is progressing to the point that he is falling too much and getting concussions. ?Up until this point, our sons have looked just like any other boys,? Jennifer said, choking back sobs. ?Now, it’s become even more real that things aren’t right with my sons.?

She said she has found support from other parents who have lost children at a grief support group offered at Pleasant Valley Baptist Church in Liberty, Mo. ?Everyone who has lost a child is in the same boat,? she said. ?It doesn’t matter how old that child was, it’s still the loss of a child.?

One day at a time, she said. That is all she can do. Daily physical therapy sessions. Seizures that are beginning to happen on a more frequent basis. Nursing a baby. Trying to make her two-story home as safe an environment as possible for her children. It’s all in day’s work as the mother special needs children.

?I don’t know life any other way,? she said. ?I have to try everything I can to get to have one more day with my children. We know there are lots of people praying for us.?

And, she believes, prayer makes a difference.

It has to.

As she finished sharing her story, sometimes through tears, she calmed her baby and told her boys ?night, night.? She doesn’t know how many more nights she’ll have with her boys. But each night is special. And she clings to her faith in God and the belief that there is a purpose, even for all of this.

She has to. It’s the only thing that gets her through each day – and night.

Learn more about Niemann-Pick Type C and Brisan and Parker