Monday, June 3, 2024, was an EXCITING day for Landon’s League Foundation and our research 
cohort as we received/discussed the results of our FIRST drug therapy trial! For this part, we extend a very special THANK YOU to the Undiagnosed Diseases Network – UDN at the UAB – The University of Alabama at Birmingham as well as Dr. Jana Marcette (Montana State University) and her students Kylie Durand, Madison Walker, and Braiden Worden for their efforts this past semester to advance the necessary research toward effective treatment discovery.
As you know, Landon and 8 other children worldwide have been identified to share the same unnamed condition caused by inheriting 2 abnormal copies of the CAMSAP1 gene. This condition/disease causes several issues including seizures, cerebral palsy, uncontrollable movements, and muscle spasticity/dystonia, to name a few.
To simplify how the drug repurposing can make a difference with this rare condition, we’ve included a photo to show the anatomy of a nerve cell (neuron) and how one cell communicates with another cell through structures called “microtubules” (see photo).
Where does CAMSAP1 fit into the puzzle?
Basically, CAMSAP1 anchors and holds the negatively (-) charged ends of microtubules in place at the edge of a cell allowing the positively (+) charged ends to extend outward and form a stable connection with another cell along a structure called an “axon”.
Without CAMSAP1, microtubules are extremely disorganized and axon to dendrite connections from one cell to another are only temporary (vs stable). This leads to countless unstable connections resulting in abnormal signal transmissions as well as seizure activity.
An analogy to explain this phenomenon is to think of a microtubule as a single stick from the game “Pick-Up Sticks”, and CAMSAP1 would be the equivalent of a rubber-band bundling one end (the minus end) of the sticks together. All of the sticks when held together would represent a single axon. Without the rubber-band (or CAMSAP1) holding the sticks together, the sticks would be scattered and disorganized.
Preliminary Findings of Drug Therapy Trial
With this in mind, our research team shared their preliminary findings regarding the efficacy of 14 drugs we previously identified (with the help of the UDN at UAB) as potential candidates via high throughput drug screening analysis for seizure prevention in small worm 
models with and without a CAMSAP1 mutation.
To do this, 14 diluted drugs were pipetted onto plates and worms with and without CAMSAP1 mutations were placed on them for 24 hours. The worms were then transferred to plates containing a seizure inducing compound (magnesium chloride) and observed at intervals of 5 and 10 minutes for signs of seizure activity.
Remarkably, 5 drug candidates demonstrated a statistically significant reduction in seizure-like activity in the worms with CAMSAP1 mutations! In fact, one drug is commonly used in treating symptoms of Parkinson’s disease and an other is used for the treatment of certain types of cancer.
Where do we go from here? As we eagerly await the (hopefully) successful rodent model containing Landon’s exact CAMSAP1 gene mutation, we discussed the possibility of a similarly designed study to explore if the treatment effects found in the treated worms would be equally efficacious in the stem cells we previously created from Landon’s blood cells.
How Can You Help?
We invite you to help support this monumental project by sponsoring and/or registering for our 4th Annual Charity “LAND-ON THE GREEN” Golf Tournament 
on Monday, 9/23/2024 at the Missouri Bluffs Golf Club! Shotgun start is at 9AM.
Click HERE for more tournament information, to sponsor, or to register!
We look forward to sharing more updates as they become available, and we hope to see you on the links!
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