This summer we had the opportunity to meet the team at the University of California San Francisco (UCSF) doing MEPAN research and present them with a check to help fund the project. This important work is the first of its kind for MEPAN – research that could directly lead to a treatment. Generous donations to MEPAN Foundation over the last 18 months have helped make this possible!
The research is taking place in the Klein Lab at UCSF, with help from Dr. Ethan Perlstein, founder of Perlara, and Dr. Alex Kastaniotis at the University of Oulu in Finland. The Oulu team has done much of the foundational work on the metabolic pathway involved in MEPAN, and Perlara helps rare disease families like ours find treatments for their children. A meeting Ethan had last year with Dr. Ophir Klein, the chair of UCSF’s Institute of Human Genetics, helped get this pilot project in motion.
Ethan’s work with Perlara is changing the way researchers and families plan, execute, and fund research rare disease. There are nearly 8,000 rare diseases – 95 percent of which have no treatment options – so it’s largely been up to the individual families to spur research interest in their condition. Perlara champions using organisms like yeast, worms and flies to develop models of a rare disease, and uses them to screen existing FDA-approved drugs. Because the safety profile of these drugs has already been established, it makes it easier to test them in rare disease patients, and can greatly speed up the research process.
Shannon Willardson, whose daughters have a rare condition known as ALG11-CDG - toured the lab with us. There are no treatments for either ALG-11-CDG or MEPAN, and the Willardsons also helped fund the UCSF research, which is actually a joint project that will build models of ALG11-CDG and MEPAN in yeast and test over 1,000 FDA-approved drugs to see if any can help either condition.
The UCSF project lead, Dr. Tomas Wald, demonstrated some of the equipment used to conduct the experiments and explained the project aims and how it would work. The team has made substantial progress, and the research is now nearing the phase when they’ll begin testing drugs in the models. If they discover a drug that looks like it might help in the models, they will then test it in skin cells from our kids that were developed using CRISPR technology. If those tests look promising, the next step would be testing them in an “N of 1” clinical trial, which the FDA has begun to consider more often in rare diseases.
Rare disease research is very difficult, and there is always the possibility no promising leads will emerge. Nevertheless, the data generated from this project will help inform future MEPAN research. We continue to connect with researchers to discuss other potential projects, since collaboration and data sharing is essential to making a treatment happen. We will have an interactive call with the UCSF team and Ethan before the end of 2021 with another update. Thank you to Dr. Klein, Ethan, Tomas and the UCSF team, and to everyone who has supported Carson and Chase's journey!