,

Developing novel therapeutics to stop the progression of eye diseases

Some people say that it is not realistic to develop a novel therapy to stop the progression of eye manifestations in Wolfram syndrome. I don’t agree.

It is possible. If we can modulate ER stress in retinal cells, we can slow or stop the progression of optic nerve atrophy in Wolfram syndrome. I have found a biotech company in Seattle that is developing novel therapeutics for “sight-threatening” eye diseases. If they can do it, we can do it.  http://acucela.com/About-Us

A tablet for eye diseases?

The biotech I mentioned above is taking a very interesting strategy. They are trying to use a tablet (i.e., a pill) for delaying the progression of eye diseases.
https://clinicaltrials.gov/ct2/show/NCT02130531?term=acucela&rank=1

I was envisioning that I would use ophthalmic suspensions (eye drops) or intravitreal injections (injection into eyes) for stopping eye manifestations in Wolfram syndrome, but we should also think about using pills.

 

/by
,

It’s so close! – Adam Zwan

Photo of Adam ZwanIt is difficult not to imagine what the future may hold when medical breakthroughs are on the horizon. Conversations took place during the last Wolfram clinic regarding clinical trials next summer. Clinical trials are fascinating movements forward in the lives of Wolfram Syndrome patients.

After hearing the news that research is going well and treatments are a possibility, I cannot stop thinking about how my life with Wolfram Syndrome may turn a corner in the years to come. Chasing glucose levels, vision loss, hearing loss, kidney failure, and many other complications due to Wolfram Syndrome will all be dealt with in simpler terms if clinical trials are a success. I think a unique treatment for Wolfram and or even diabetes would be as big as Bill Gates and Microsoft.

Even though having high hopes and dreaming of what could be can set a person up to be further disappointed; hope is one of the driving forces behind life’s remarkable occurrences. I dream everyday about getting a full nights rest and not having to wake up every two hours to check my glucose, as well as not experiencing mood swings due to glucose fluctuations all day. Also, I hope to be able to see and hear well enough to drive myself where I need to go and be able to not hassle with visual and hearing difficulties at work. Then there is the hope of being able to eat a well balanced dies and not eliminate certain food groups so that I can stay out of the emergency room. It is so close I can feel it because if Dr. Urano’s medical breakthrough is a success all my prayers will be answered.

/by

Regenerative Medicine and Regenerative Therapy

Regenerative Medicine and Regenerative Therapy are the same concepts. Regenerative Therapy focuses on the clinical application of regenerative medicine. Regenerative therapy aims at growing tissues and organs from stem cells derived from patients in the laboratory and implanting them to patients.

When we establish our ER disease clinic, we should include “regenerative therapy” into our platform in addition to endocrinology, neurology, and genetics.

We have established more than 100 stem cell lines from Wolfram patients. We are currently differentiating them into eye cells and brain cells. There are many ongoing clinical trails using stem cells. My goal is to join them as soon as possible. There are many hurdles and challenges, and we need to solve them one by one.
http://clinicaltrials.gov/ct/search?term=stem+cell&submit=Search

 

/by
,

Endoplasmic Reticulum Disease Clinic 4: Personalized Medicine Again

One of my goals is to practice “Personalized Medicine” in our clinic because each patient is different.

The power of genetic medicine should be fully utilized. I believe that whole genome sequencing and exome sequencing are useful for making an accurate diagnosis. The information we get from patient’s DNA can be utilized to choose the best specialists for each patient and design a regenerative therapy or gene therapy. I will talk about this more.

I feel that something wonderful is going to happen to you today!

/by
,

The Last Advice from late Dr. Alan Permutt

I talked about medicine and DNA too much in the past several days. So let’s take a break and talk about Dr. Permutt.

Dr. Alan Permutt

The late Dr. Alan Permutt

As many of you know, I took over Dr. Alan Permutt’s research program on Wolfram syndrome two years ago. I believe that it was controversial that a young foreign physician would take over Dr. Permutt’s position. As I mentioned in my previous blogs, I was leaving research when Dr. Permutt asked me to come to Washington University. So I talked with him many, many times before I made a decision. He assured me that other Washington University doctors, including Dr. Semenkovich, Dr. Fraser, Dr. Hershey, Dr. Marshall, Dr. White and others, would help me. He also told me that the Snow Foundation would support me. What he told me was all true. All the doctors have been supportive and helping me a lot, which I always appreciate. The support from the Snow foundation is enormous. I always feel that our higher power lets us work together.

The last advice from Dr. Permutt was the following.
“Fumi, All of my colleagues will help you. Just trust them. You will take us to the next level, and all of your new colleagues will help you.”

I see a big smile in your face! I hope you will have the best day in your life. I am sending kind thoughts towards you!

/by
,

Endoplasmic Reticulum Disease Clinic 3: Personalized Medicine

By Dr. Fumihiko Urano

I received many questions about yesterday’s blog describing the clinical application of a new DNA sequence technology. So I would like to clarify a few things.

1. Cost

There is a lot of discussion about the cost. Will our health insurance cover this? I believe that it will be covered in the near future. To sequence all the genes in each patient is equivalent to taking the perfect past medical history and family history. So there is a tremendous value in doing this.

2. Personalized Medicine

It is critical to sequence all the genes in each patient for designing a treatment strategy. Each patient is different, and we should design a personalized treatment plan for each patient. I am designing a few treatments for Wolfram syndrome patients. One of the treatments that I have designed should work for patients who have WFS1 gene mutations, but not for patients who have WFS2 gene mutations. I have many other examples.

I hope that you will have the best week in your life! Talk to you tomorrow!

/by
,

Endoplasmic Reticulum Disease Clinic 2: First Step

By Dr. Fumihiko Urano

What is the first step to provide the best care for patients with rare endoplasmic reticulum diseases, including Wolfram syndrome? The answer probably applies to any undiagnosed disease.

My answer as of today is “exome sequencing.” What is exome sequencing? Exome sequencing is a new technology to sequence all the genes in each patient. This is available at our medical center. By looking at all the genes instead of one gene (such as WFS1 gene), we have a better chance to understand what is really going on in each patient. This is also critical for designing “personalized” treatment. As I mentioned before, each patient is different, and should be treated differently. We should look at all the genes, not one.

/by
,

Stem cell-based therapy using skin cells from patients

I have been thinking a lot about stem cell-based therapy for patients with Wolfram syndrome. We have created many induced pluripotent stem cell lines (iPS cell lines) using skin cells from patients with Wolfram syndrome. In theory, we can create any types of cells using these iPS cells.

The idea of stem cell-based therapy for diabetes and neurodegenerative diseases is not new anymore, and there are multiple ongoing clinical trials. The key to success for stem cell-based therapy is to establish methods for creating high-quality insulin-producing cells, eye cells, and different types of brain cells. We should keep on working on stem cell-based therapy for Wolfram syndrome.

/by

Long Time No See

I had a great week. I just returned from the Wolfram Clinic in St. Louis. This is my 5th year going to the clinic. I am going to tell you the difficulties I had of hearing and seeing.

Photo of Dr. Urano and Lauren Gibilisco

Dr. Urano and me at my 5th Wolfram Clinic.

The first night we had orientation. We were to go to different stations to sign papers and collect supplies. I sat at Dr. Urano’s table and chatted for a while. After we left I said to my mom “does he have an accent and where is he from? “My mom told me he was Japanese. This is the 5th year of seeing him and I never knew he was Japanese. We had a good laugh over that.  It is very difficult to have someone come up to you that you can’t see and can hardly hear. As we went from table to table I greeted the doctors with “long time no see.” I wanted to see how many of them would catch it.

In my appointment with the audiologist I had to listen for beeps, repeat words and sentences. My first sentence was “the cat is sitting on the bed.” I repeated “the cat is shitting on the bed.” I asked her if that sentence was what she said. She could hardly answer me because she was laughing so hard. She said I gave her the laugh for the day.

One day we took the trolley to go explore Forest Park. It was very difficult getting up into the trolley. There were two steep steps I had to go up and making sure I didn’t fall off the curb. I made it onto the trolley and had to get to my seat. Again I had to step up to get there. I grabbed for the seat in front of me but instead I grabbed the hair of the lady in front of me. I was mortified and apologized to the lady and my mom did also. She said “she was fine.” We all had a good laugh over that.

I realized how the information that the doctors get from us will one day lead to a cure. Dr. Urano is creating new eye cells right now that may greatly help or reverse eyesight. The clinics are great.  It is so nice seeing all the people there each year. We feel like a family. But all the testing and blood samples may one day help stop or cure Wolfram Syndrome. I for one am so happy to be a part of this and to be a part of the cure. What better way to help others out.

/by
,

Combating Wolfram Syndrome

We have the pleasure of sharing the posts from Dr. Urano’s blog “Combating Wolfram Syndrome”.  Below are his posts for the week of July 21-25.

Friday, July 25, 2014

Endoplasmic Reticulum Disease Clinic 1

Thank you for your feedback for my blog.
http://wolframsyndrome.blogspot.com/2014/07/a-platform-for-providing-immediate-care_24.html
We need to consider multiple factors and logistics for establishing “Endoplasmic Reticulum Disease Clinic.” We need space, motivated physicians and nurses, and knowledgeable administrators. To accept out-of-state patients, we need to provide information and discount of hotels nearby. I feel that we can accomplish this.

Thursday, July 24, 2014

A Platform for Providing An Immediate Care for Patients 2

Thank you for your valuable feedback for my yesterday’s blog.
http://wolframsyndrome.blogspot.com/2014/07/a-platform-for-providing-immediate-care.htmlI feel that we need to create an interdisciplinary clinic where the integration of physicians across disciplines can lead to an improvement in the management of patients with Wolfram and Wolfram-related disorders (diseases related to ER stress). The key is that all the physicians are on the same floor and a patient can see them on the same day. I am working on a blueprint. Let’s call it “Endoplasmic Reticulum Disease Clinic“.

Wednesday, July 23, 2014

A Platform For Providing An Immediate Care for Patients 1 

I often think about this topic. What is the best platform for providing an immediate care for a patient with Wolfram and other rare diseases? My idea is to establish a multidisciplinary clinic for Wolfram and related diseases. When an undiagnosed patient comes to a hospital, he/she will see a medical geneticist/internist to get a correct diagnosis, and then a patient is referred to multiple specialists on the same floor. The key is that all the doctors are on the same floor so that a patient does not need to walk around a big medical center. I will keep on thinking about this. I welcome any feedback from you.

Tuesday, July 22, 2014

Please contact us if you receive a medicine for an “off-label” use

If you are a patient with Wolfram syndrome and have been prescribed a medicine for an “off-label” use, I would appreciate if you contact us (Phone: 314-362-8683, urano@dom.wustl.edu).
http://wolframsyndrome.dom.wustl.edu/As I mentioned in my previous blogs, the law let physicians prescribe a FDA-approved drug to treat a condition for which it is not approved. This is called an “off-label” use. Many physicians are compassionate, and try to help their Wolfram patients by prescribing a drug for an “off-label” use. I often get questions from physicians and patients related to an “off-label” use. Although I don’t recommend any specific FDA-approved drugs at the moment, I would gladly answer your questions. If you are receiving a drug for an off-label use, we can monitor biomarker levels for you and your physician. I respect your and your physician’s decision. So please contact us. I just want to help.

Monday, July 21, 2014

Consultation Clinic 2

As I mentioned in my previous blog, it would be important to establish a consultation clinic for Wolfram at Saint Louis Children’s Hospital for pediatric patients and at Barnes-Jewish Hospital for adult patients. We can do this using regular clinic space or set up new space. For the latter, we probably need to include other rare diseases into our platform. There are several advantages for this. My big idea is to set up a platform for regular care for patients with rare diseases.
http://wolframsyndrome.blogspot.com/2014/07/consultation-clinic.html

Photo of Dr. Fumihiko Urano Combating Wolfram Syndrome

Dr. Fumihiko Urano

Dr. Urano is a renowned physician and scientist developing therapeutics and diagnostics for Wolfram syndrome and juvenile onset diabetes. His areas of expertise include Wolfram syndrome, type 1 diabetes, Pediatric pathology and genetics and Molecular Endocrinology.  He is currently employed at the Washington University School of Medicine where he holds the Samuel E. Schechter Professor of Medicine, 2012 – present.

/by