Shawshank Re:Dementia Day 392 (1 Year, 27 days): “Who, What, Where, Why, When-sday”: DIAN

Posted 4/7/21

Do not be anxious about anything, but in every situation, by prayer and petition, with thanksgiving, present your requests to God. And the peace of God, which transcends all understanding, will guard your hearts and your minds in Christ Jesus. –Philippians 4:6-7

Happy Wednesday to all! 🙂 I have always been a fan of Wednesdays. It seems like the pinnacle of the week, if you think of it as a bell curve, and you can see in all directions (to last weekend and the next weekend) very nicely. I hope the rest of your week goes smoothly. Today’s Who, What, Where, Why, When-sday will be an investigation of a project that isn’t as common, but one that is critically important to many: the Dominantly Inherited Alzheimer Network, or DIAN for short.

Who: Dominantly inherited Alzheimer’s Disease (DIAD, the subject of study for DIAN) is a small subset within the dementia umbrella of conditions, comprising less than 1 percent of the cases of dementia. It is particularly sinister in that it is hereditary and can involve many members of the same family depending on which gene mutations are present. To qualify for this study/network of data (Alzheimers.gov LINK), you must be at least 18 years old and “must have:

Child of an individual with a known mutation for autosomal dominant Alzheimer’s disease
Cognitively normal; may allow enrollment of participants with very mild, mild, or moderate cognitive impairment
Fluent at the 6th grade level in a language approved by investigators
Has two people who are not siblings who can serve as sources for the study

and must not have:

Medical or psychiatric illness that would interfere with completing initial and follow-up visits
Requires nursing home level care”

Bottom line: Not many qualify, but we sure need those who do to be a part of programs like this. 🙂

What: From Alzheimers.gov: “This study will identify the biological changes that occur in the development of Alzheimer’s disease to improve early diagnosis and to track progression of the disease. Researchers will collect biological information from adults who have parents a known inheritable, genetic mutation for Alzheimer’s disease, specifically mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) genes. Participants will undergo genetic testing, brain imaging, and provide blood and spinal fluid samples. Researchers will measure the amount of abnormal amyloid in the brain and spinal fluid, changes in brain size (e.g. shrinkage), and brain metabolism (energy processing). They will compare the changes that occur in participants with and without mild Alzheimer’s symptoms, who may or may not have an Alzheimer’s genetic mutation. All results will be stored in the Dominantly Inherited Alzheimer’s Network (DIAN) Central Archive, an international database that allows qualified researchers to access and analyze the information. All information will be anonymized to ensure the privacy of the participants. Participants may choose to receive the results of their genetic test, and if so, will have access to genetic counseling at no cost.”

Where: It is sponsored by Washington University School of Medicine (St. Louis, Mo.), the National Institute on Aging (NIA), and the Alzheimer’s Association (and is actively recruited in around 20 locations in multiple countries found here: LINK

Why: There are a lot of great reasons why these studies need to happen despite a relatively small subset of cases. They are a great opportunity to study longitudinally (long-term) because of the higher and predictable expectation of contracting the disease. This study builds more and more data about the pre-symptomatic existence of the disease without testing the many who will never get dementia. It is sure to be a crucial study regarding prevention as well. Summary: It gives such a unique opportunity to examine the history of the condition in the trial members and its study methodology (adaptive/changeable) and its subjects blend well with other studies. Please watch these videos: (LINK )

When: The sooner the better. This is expected to conclude in 2024 although the pandemic may allow for some room for extension. This will allow for 15 years of data to be utilized, having been started in 2009. Treatments and possible prevention options are being investigated currently as a direct result of this study. “The trial began with two investigational drugs (gantenerumab and solanezumab) and focuses on drugs that can potentially change the course of the disease.” I was blessed just this week by seeing some reviews via a webinar of some more of the findings.

This and several similar studies which we will discuss on future Wednesdays have so much potential. We are dealing with a challenging problem to say the least. Here are some of the many challenges:

Invasive examination of the brain isn’t a popular destination for people interested in helping with clinical trials.
By the time many participate/are evaluated, the pathology is already at work even if they do not yet have symptoms.
A lot of people never get dementia. If you study them longitudinally, while it is important, it is critical to find some who will develop the disease as well.
There are limited resources.
The brain is incredibly complex. Our ability to learn is hindered by its fragility, limits of willing parties to be tested/examined, the blood-brain barrier, and other challenges.
The problem is incredibly complex. Even Tau and Beta Amyloid are complex because some who have a lot of these likely causal pieces of the cure puzzle don’t get the disease and there are also very symptomatic people with neither of these.
Prevention is critical. We know it is. We know what is good for the heart is good for the brain. However, people don’t always care. Hence diabetes, heart disease, stroke, and other causes of death continue to increase despite preventable aspects of each. What makes dementia any different? (Sorry…kind of cynical there…)

Bottom line: If you can help with this and/or other trials, please do. 🙂 Here is a good jumping off point to help in this way: TRIAL MATCH

If you would like more info on DIAN, here are two numbers that can help: 1-844-342-6397 DIAN and 1-800-272-3900 (Alzheimer’s Association).

This is a necessary piece of the puzzle if we are ever going to realize a world with no dementia and #EndALZ once and for all.

Update: Mom’s blisters seemed to be better per the nurse. I will see her in person tomorrow unless something changes. Her wheezing is intermittent, but is especially bad right after meals for an hour our two. She is such a strong person! I look very forward to my 15 minutes this week with her. Is the pandemic over yet? 🙁

Runnin’ Til I’m Purple update: I am logging a lot of miles in preparation for this June run. I did 9.25 this morning and average about 30 miles a week leading into the weekend when I do a long run. Last week I lumbered through 20.1 miles and I will shoot for about 21-22 one day this weekend. The car wash fundraiser is going full speed ahead at Blue Iguana. If you are in Springfield, Mo. and get your car washed at any Blue Iguana car wash, please put 1735 in the wash code section as you pay and it will give us 25% of the amount you pay for our fundraiser. T-Shirt preorders are going strong. Here is the link for that: LINK If you are local, I can deliver them to you or arrange pickup. If you are from out of the area, you can arrange shipping through the site. It is inexpensive. For every 2 dozen we sell, the price for all of them goes down, so it really helps to order them. 🙂 The total of the fundraiser just hit 1/3 of the way there. We are at $1760 on a $5280 goal! Very exciting!!! We will beat this disease one purple step at a time… I am working on my computer cleanout fundraiser, but it will have to be in May…too much weekend training. I will reorder a weekend in May and will do the donation-based effort then. 🙂

Thank you all sooooo much for giving, for thoughts and prayers, and for fighting with me to end this mess.

-Mark