The current drug development pipeline for Pitt Hopkins syndrome:

Now, let’s break all of this down.

MICROBIOTA TRANSFER THERAPY: We have already had one successful human clinical trial with microbiota transfer therapy and just launched our second trial with a powdered version of the medication so that patients who can not swallow a pill can participate.

GENE THERAPY: Our gene therapy research was so promising that we were chosen as the lead indication for Mahzi Therapeutics. We hope to launch our first human clinical gene therapy trial in conjunction with Mahzi Therapeutics in 2025.

GENETIC TREATMENTS: We believe the most promising treatment will come through genetic therapy and we are pursuing 4 different kinds of genetic therapy at labs across the country, from UCSD to Nationwide Children’s Hospital. In this approach, we are focusing on using various gene mediators such as CRISPR and ASO’s, to enhance the production of the functioning copy of TCF4. Essentially, in these approaches, we want to increase the volume of the good copy of TCF4.

REPURPOSING: We have discovered that some already FDA-approved drugs can be repurposed to help our children. These will likely deliver small gains but as parents know, even small changes can be significant ones in the life of a Pitt Hopkins family. One such compound will launch in clinical trial with Unravel Therapeutics in 2025.

CLINICAL TRIALS: When we started this foundation in 2013, we had a goal of trying to bring at least one drug to trial within a decade. Thanks to the hard work of so many, we have brought two drugs to trial in that time frame: MTT therapy for GI issues and our favorable, recently completed trial in participation with Neuren Pharmaceuticals.  We are currently in the midst of a second MTT Trial to test the powder version and optimize dosing, and plan to launch a Repurposing trial with Unravel Therapeutics by early 2025.

Our pipeline is promising, but there is much more to be done. We need more arrows, and more arrows that are further to the right.  Because of that, WE CAN’T STOP, and WE WON’T STOP. Because of that, every day is #beyondawareness day. So please share, support, and most of all, give generously.