Like many rare diseases, Monoamine Oxidase Deficiency (MAOD) has limited treatment options. Large pharmaceutical companies often focus on common diseases because they can recover their research costs and turn a profit, leaving rare diseases like MAOD without the attention they deserve. This is why our research depends on grants and donations from people like you. Research is time-consuming and expensive, but it’s essential to improving lives. We’re dedicated to overcoming these challenges and finding solutions for patients with MAOD.
MAO A Gene Replacement Therapy
One of our main research goals is to develop a therapy that replaces the faulty MAO A gene. This treatment could benefit patients with either MAO A deficiency or combined MAO A/B deficiency. Since MAO B deficiency alone doesn’t usually cause significant intellectual or behavioral issues, restoring MAO A function could potentially prevent the severe challenges experienced by individuals with both deficiencies.
Gene replacement therapy works by providing patients with a healthy copy of the MAO A gene to replace the non-working one. We use a harmless virus to deliver the gene to the body. For MAOD, the therapy needs to target the brain, so it’s administered through injections into the spinal cord or directly into the brain.
Since our foundation began in 2022, we’ve made early progress suggesting that this approach might reduce or even prevent the symptoms of MAO A and MAO A/B deficiencies. While there is still a long road ahead, we are optimistic about the possibilities.
Brain Organoids
Our second research initiative involves growing “mini-brains” in the lab, known as brain organoids, to safely test potential treatments. Thanks to advances in science, we can take a small sample of blood or skin cells and turn them into stem cells, which can then be transformed into brain cells. These cells group together to form organoids, tiny clusters of tissue that mimic brain function and cell interactions.
We’ve already created organoids using cells from a patient with MAO A/B deficiency and his unaffected mother as a control. By comparing the two, we can better understand how the disease affects brain function. These organoids also allow us to test our gene therapy and other treatments in a controlled environment without putting patients at risk.
Unbiased Drug Repurposing
Our third initiative focuses on identifying existing drugs that might help treat MAOD. Sometimes, drugs created for one condition can unexpectedly benefit another, thanks to the complex ways the human body works. This process, called drug repurposing, can save time and money because these drugs have already passed safety testing.
To find potential treatments, we screen thousands of drugs, including many FDA-approved ones, using simple animal models like worms or frogs that mimic MAOD symptoms. Any promising candidates are then tested on our brain organoids to see if they could help correct the disease. If successful, these drugs could move into patient trials much faster than a brand-new therapy.
Our mission is to develop real solutions for patients with MAOD. From pioneering gene therapies to repurposing existing medications, every step brings us closer to life-changing treatments. Your donations and support enable us to push this critical research forward and bring hope to patients and families affected by MAOD. Together, we can make breakthroughs possible.