Do we need a new drug?

My answer is yes. Our current focus is to choose the best FDA-approved drugs that can delay the progression of Wolfram so that we can immediately start treating our patients (off-label use). Based on our current results, our candidate FDA-approved drugs are not perfect. Because they are designed for other diseases, these drugs should be improved to suppress the abnormal enzymatic activity in Wolfram patients' cells. So we need to develop new drugs specifically designed for Wolfram. As I mentioned in my previous blogs, new drugs for Wolfram could be effective for other ER stress-related diseases such as type 1 diabetes and potentially ER stress-related eye diseases.

Consultation clinic?

We host a Wolfram syndrome research clinic once a year at the Saint Louis Children's Hospital. I get many questions about this clinic. This is a research clinic and invitation only, and we don't provide any treatment. We perform multiple tests to get information from patients. We have learned a lot from these research clinics, and I always appreciate the efforts of patients and all the medical and administrative staff.

I feel that now we need to start a consultation and follow-up clinic at our Children's Hospital and Barnes-Jewish Hospital so that both pediatric and adult patients can come anytime and we can check their medical records and provide the necessary information to patients. This is probably an important stepping stone to enable us to start treating our patients with a FDA-approved drug.

We also need a platform for our patients to get to know each other and exchange information. As usual, I welcome any feedback from you.

Why are we creating eye cells using skin cells from patients?

Why are we creating eye cells using skin cells from patients? More accurately, we are creating two different types of retinal cells using stem cells derived from skin fibroblasts of patients with Wolfram syndrome. We can immediately use these cells to understand the mechanisms of the disease and test the efficacy of candidate drugs. That's a practical goal and should be achievable.

My audacious goal is to use these cells to replace damaged eye cells in patients. There are many theoretical and practical hurdles to accomplish this, but we should try. Every accomplishment starts with the decision to try.

Just sent out my grant application on Wolfram syndrome

I could successfully send out my grant application on therapeutic development for Wolfram syndrome this weekend. I would like to thank my colleagues, collaborators, and administrators for this. It was a lot of work. I sincerely hope that this will be funded to accelerate our research and start an interventional study as soon as possible. Wish me luck!

Stop the progression of the disease

The first step for providing a cure for Wolfram syndrome or any disease is to stop the progression of the disease. We are taking two strategies that are correlated. Here is my concept, and we are making progress in both areas. How do we test candidate drugs? We are using iPS cells derived from skin cells of our patients.