The British Journal of Occupational Therapy

“Understanding activity participation among individuals with Wolfram Syndrome”

2018 has brought another publication from the Wolfram Research Group! This article, titled “Understanding activity participation among individuals with Wolfram Syndrome”, was recently accepted to the British Journal of Occupational Therapy.

We wanted to learn more about the use of Occupational Therapy (OT) services in people with Wolfram Syndrome (WFS), and how participation in daily activities could be affected due to WFS symptoms. Participation in daily activities means being able to do the things we want and need to do, which leads to more independence and improved quality of life. Knowing the activities that are most important to those with WFS can help us develop better and more patient-focused interventions and services.

We asked research clinic participants questions about 1) their use of OT services in the past and present, 2) which daily activities were most difficult for them to accomplish, how important these activities are to them and how satisfied they were with their performance and ability to do the activity, and 3) which WFS symptoms affected these daily activities.

Overall, we found that only 22% of participants have ever used OT services. These services were most often for fine motor coordination and low vision. In addition, we found that daily activities identified as important were self-care (personal care, mobility), productive (household management, going to school or work), and leisure (recreation and social) activities.

Overall, we found that people reported reduced participation in daily activities when compared to a non- WFS group. In addition, participation was more restricted over time as WFS neurological symptoms progressed. Adults had more difficulty with activities that were related to social activities and getting out in the community and children/teenagers had more difficulty with activities related to playing and school. Participation in daily activities was most restricted due to walking/balance problems and loss of vision.

These findings raise awareness of the impact of WFS symptoms on daily life and point to neurologic and vision symptoms as being the most limiting aspects of WFS. OT professionals can provide self-management techniques and strategies for low vision or balance issues. These approaches may be of help to those not already using OT services.

 

For more information, look for this publication in the near future: Bumpus E, Hershey T, Doty T, Ranck S, Gronski M, Urano F, & Foster E. Understanding activity participation among individuals with Wolfram Syndrome. British Journal of Occupational Therapy. (In Press).

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Washington University School of Medicine 2018 Wolfram Research Clinic Update

Washington-University-Wolfram-Study-group Washington-University-School-of-Medicine

Yes, we’re still waiting! No word yet on the final determination of funding for the 2018 Wolfram Research Clinic. But, as we said, we are proceeding with the planning. We wanted to share with you the final dates of the clinic and a couple of changes from previous clinics.

The official clinic dates are Wed., 7/11/18 thru Wed., 7/18/18. The way it will work is that we’ll have two groups thus two clinics; Clinic 1 and Clinic 2. Clinic 1 will be held Wed., 7/11/18 thru Sun., 7/15/18. Clinic 2 will be held Sat., 7/14/18 thru Wed., 7/18/18. Testing will take place on week days and the Wolfram Group meeting (formerly known as the “Saturday Session”) will be held on Saturday, 7/14/18. The change most frequently requested by the families on the post-clinic evaluations is more time built in to the schedule for families to socialize. In an effort to meet this request, we are working on setting up family socials at least one night during each clinic and one after the Wolfram Group meeting on Saturday. It will take a bit to find a space that fits our group but we want you to know that we heard your request and we’re working on it!

Dates to remember:

Clinic 1 – Wed., 7/11/18 – Sat., 7/14/18 Wolfram Group meeting & Family Social – Sat. 7/14

Clinic 2 – Sat., 7/14/18 – Wed., 7/18/18

If you have a preference of attending Clinic 1 or Clinic 2 please let Samantha know sooner rather than later!

Need Help? For questions or requests regarding the Wolfram Syndrome Research Clinic please contact the WFS Research Clinic Coord., Samantha Ranck, MSW at 314.362.6514 or rancks@npg.wustl.edu

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Wolfram Association-Georgia

Matsatso Khachapuridze from Georgia is the founder of a non-governmental organization called “Wolfram Syndrome – Georgia”. “Wolfram Syndrome – Georgia” was founded on November 29th, 2017. Matsatso decided to establish this organization because she has Wolfram Syndrome (WS). In Georgia, WS is not on the list of rare genetic diseases and there is no statistical data for this disease. The only data that is available is in the “Diabetic Child Protection Association”, where there are 20 people with WS (official data).

Matsatso met with the chairman of the Committee on Health and Social Issues of the Parliament of Georgia. She was asked why she needed WS to be on the list of rare genetic diseases since people with WS already receive free medication for diabetes insipidus, diabetes mellitus, and desmopressin. She explained to the chairman that there are other things that are desperately needed for these patients due to the many manifestations of this disease. For example, hearing devices.

There are no medical institutions or special programs in Georgia where patients with WS could get a consultation to discuss all the aspects and issues of WS. Wolfram Syndrome-Georgia is hoping to change this. For more information please contact;

Wolfram Syndrome-Georgia

wolframgeorgia@gmail.com

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The Snow Foundation to Start a Patient Registry

The-Snow-Foundation-to-Start-Patient-RegistryTSF is leading the charge to find a cure for Wolfram Syndrome. A major step in this fight is to assemble an international patient registry that will help with the funding and drug development process. TSF’s patient registry will be used prospectively to quickly identify patients eligible for a clinical trial, or retrospectively to analyze the effectiveness of an intervention. A foundation patient registry will also help patients receive more accurate advice and improve care pathways, which can lead to improved care and life expectancy, even in the absence of a cure.

This registry may also serve as a way for patients and families to connect with each other, as emotional support is an important part of the healing and treatment process.  TSF will be contacting families shortly.

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What are biomarkers and why are they important?

January 2018 

One of the global health priorities of the International Rare Diseases Research Consortium (IRDiRC, www.irdirc.com) is on to find new treatments for the 80% of rare diseases that currently have no cure or means to treat. We know of over 8,000 rare diseases, so this is a really big challenge. As everyone knows, it is a huge task to come up with a treatment, then get it approved so that patients can have it in the clinic. Once you have come up with a treatment, people ask: ‘how do you know it will work?’.

The best example I can think of is anaemia. You may be feeling tired and pale with a lack of energy, and go to your doctor – she takes a blood test, tells you that you are anaemic, and prescribes you some iron medicine. You take the medicine, and after a few weeks you feel better so your doctor invites you back for another blood test, says your blood count has come up, and you can stop the medicine. That blood count is what we call a ‘biomarker’ – something that we can measure to see if a treatment has worked. The doctor needs it to decide when to tell you to stop taking your medicine. Without it, she doesn’t know whether you feel better because the medicine worked, or because you are eating better, or just because the sun has come out!

A biomarker is anything that we can measure, to see if a treatment is working. If the treatment is to help you lose weight, the biomarker is your weight. If you have a metabolic problem where a toxin builds up in your blood, then the biomarker is the level of toxin in your blood. It can even be a change seen on X-ray or brain imaging scan.

Biomarkers become especially important when you are treating a disease that takes months or years to progress- if you start taking a treatment, you want to know it is helping you, without waiting for years to find out if you are going to develop any complications of the disease.

When we study a medicine to see if it will treat a disease like Wolfram, it may take at least two years, or probably longer, to tell if the medicine has stopped the disease getting worse. If after 2 years, the person’s disease is still getting worse, then the medicine has not worked, and he/she has to start the process from the beginning with another treatment.

You might ask – why not try several different treatments at once? That’s a good question but there are two problems: firstly, the treatments may not work; or only one of them may work and the others are unnecessary; and then every treatment has side effects, which may get worse when you mix them with other medicines.

So why might biomarkers help? Well, to use the example of anaemia again: if you have something that you can measure, like a blood count in anaemia, you can quickly find out if the treatment is working, even before the person who was anaemic feels any better.

In Wolfram, if we ask people to take a treatment for the disease, we want something we can measure that will tell us quickly whether the treatment is working or not, without having to wait 2 or more years to tell if the disease has stabilised.

Biomarkers become really useful in clinical trials of a treatment: we really need a biomarker that will tell us whether the treatment is working within 6 months; so that if it is not, we can stop the trial, and switch to another treatment.

This is why we will be asking people to donate blood samples during our upcoming clinical trial. We want to make the samples available for the wider research community, and support the international effort to find biomarkers to measure the effectiveness of treatments in Wolfram.

Tim Barrett 

the-british-consortium

The consortium Left : prof. Timothy Barrett, Right, 1st line: prof. Melanie Calvert, Dr Kristian Brock, Dr Zsuzsanna Nagy Right, 2nd line : prof. Richard Sinnott, Dr Anita Slade, Dr Ben Wright

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Dr. Urano’s January 2018 Update

Fumihiko “Fumi” Urano, MDHello Everyone,

As this is the first time to see you in 2018, I would like to begin by thanking all of you for your continued support and encouragement. I appreciate it immensely. I am so grateful to have such supportive friends. I would like to update you about our latest developments as usual.

Our drug-repurposing clinical trial of dantrolene sodium is ongoing. The trial began in January 2017. Twenty-two patients with Wolfram syndrome enrolled. Two patients decided to leave the study due to personal reasons and one patient could not start the study because of medical reasons. So nineteen patients started taking dantrolene sodium. As of today, fifteen of them have been taking dantrolene for more than 6 months. At this stage, my team has found few side effects and has identified safe dosage levels in adult and pediatric patients. I saw some beneficial effects on remaining beta cell functions, visual acuity, and neurological functions in some patients, but did not see any beneficial effects in other patients. Because all the participants are taking dantrolene, we cannot conclude that any effects are due to dantrolene. Nevertheless, I have sent the data of fifteen patients to statisticians who have not been involved in our Wolfram studies (myself and my colleagues are biased as you can imagine). We will find out more about the outcome of this study in the next several months.

I thought a lot about our therapeutic development for Wolfram syndrome during the holiday season. I feel that drug-repurposing may not be good enough. I firmly believe that we need a breakthrough therapy for Wolfram syndrome. This year, I would like to spend more time for developing regenerative gene therapy, especially for visual impairment. In parallel, I would like to develop a second-generation dantrolene which is more potent and safe. These are my two goals in 2018.

I feel that something new and wonderful will happen to us this year. I feel that we will go into a new stage. Thank you again for your continued support. I am hopeful and grateful.

Looking forward,

Fumi

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Dr. Urano’s November Update

November 4, 2017Fumihiko “Fumi” Urano, MD

Dear Friends,

It has been a while since we last talked. I hope you are enjoying this Fall season with your family and friends. I think about the value of family and friends a lot lately. Support from family and friends keeps me going. So I appreciate your continued support, encouragement, and kind words. Let me update your about our progress on therapeutic development for Wolfram syndrome.

Our drug-repurposing clinical trial of dantrolene sodium is ongoing. The trial began in January, and nineteen patients with Wolfram syndrome from the US and Canada are now involved. Participation requires periodic testing and monitoring at the adult and pediatric clinics at Washington University Medical Center in St. Louis.  The trial is focused on the safety, tolerability, and efficacy of the drug (visual acuity, neurological functions and remaining beta cell functions). At this stage my team has found few side effects and has identified safe dosage levels. More tests and data are necessary before any conclusions can be reached.

I am aware that we need a breakthrough therapy for Wolfram syndrome. In theory, drugs that target endoplasmic reticulum (a cellular compartment damaged in Wolfram patients), such as dantrolene sodium, can delay the progression and may improve functions of remaining beta cells and brain cells, but these drugs cannot reverse symptoms. We need something that can reverse symptoms, such as visual impairment, and we need to tap into new technologies. We are developing a regenerative gene therapy, especially for visual impairment. Our strategy is to introduce a regeneration factor into a type of retinal cells using a gene transfer technology. This is clearly not simple and requires a lot of time and efforts, but we are making progress.

Thank you for taking your time to read my blog. I hope to talk to you again soon.

Warmest regards,
Fumi Urano, MD

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Newman’s Own Foundation $500k Holiday Challenge

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