We are looking for Alport Syndrome patients for a study

I am a primary investigator of the Regulus RG012 study using RNA inhibition to treat Alport Syndrome.

Here are some good resources that I used to brush up my Alport and RNA inhibition skills.

First a video review of Alport

https://www.youtube.com/watch?v=mJ6ULJrdW7I

The best part of the video is the detailed description of collagen IV at 4 minutes. This finally allowed me to understand the multiple mutations that cause Alport.

This video is grand-rounds length description of Alport with a focus on how it affects women by my friend Michelle Rheault.

RG-012 uses a drug that is a oligonucleotide that inhibits the activity of miR-21. miR-21 is a micro RNA which affects the translation of mRNA to protein. In high school biology I learned about messenger RNA, transfer RNA, and ribosomal RNA and that was enough RNA for anyone. But then the Nobel Prize guys had to go and give a prize for the discovery of RNA interference in 2006. Here is a basic explainer about RNA interference.

Here is Regulus’ presentation on RG-012

If you are a physician in Michigan with a patient with Alport Syndrome (needs to be pre-dialysis and per-transplant) or a patient with Alport Syndrome please get in touch, we want to hear from you.

Joel Topf (jtopf@mac.com)