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]
“The National Niemann-Pick Disease Foundation (NNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. This site is an educational service of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. Information contained or suggested on this Web site does not constitute medical advice. For all information related to care, medication or treatment, the NNPDF recommends consulting a physician to determine if information presented is applicable. Please review these additional cautions about medical information provided on the Internet.”
Denny Porter and Nicole Yanjanin/ National Niemann-Pick Disease Foundation. NPC Clinical Trial Opportunity. July 13, 2009. July 31, 2009 <http://www.nnpdf.org/NPCClinicalTrialOpportunity.html>.
March 24th, 2010 at 1:23 am
My mother has picks – age about 65, showed first signs around age 50 but didn’t become seriously affected until about age 60. I noticed that she did very well when taking DHEA and I mentioned it to a Dr. at Mayo Clinic. He thought it might be helping reduce inflammation in the brain. We never discussed oxidative stress but if you google DHEA and Oxidative Stress, you will see reports that it reduces oxidative stress! I know that I have read somewhere that seizures may be the brain’s attempt to force release of and make available DHEA. We experimented with a lot of different supplements and drugs but we never seemed to slow down the progression. We blogged about everything we did. I have personally taken NAC and I have noticed it helps me remember my dreams when I wake up. I also take R-ALA and a vitamin C because ALA will actually oxidize if you don’t have enough vitamin C for it work with. The benefits of NAC are great.
March 25th, 2010 at 12:37 pm
Gary, Thank you for posting a comment! With Niemann-Pick Type C we know the main issue is with intercelluar cholesterol. With that causes these trickle down effects which one of them is oxidative stress. NAC seems to be pretty safe and minimal side effects. We would like to conquer Mount Everest in one day but we know that we have to take it day by day.
Thank you for the great information!
Michael