This was a huge success in getting together clinicians, researchers and patient representatives from all around the world.
Here’s is Martin’s feedback from this important event –
“Martin Winter, committee member, DBA UK and father to Olivia Winter (DBA)
In September, I was delighted to be asked to attend the Euro DBA Symposium in Germany. The meeting entitled ‘Building Global Bridges” was attended by clinicians, researchers and patient support groups from 25 different countries.
The meeting represented an opportunity to share experiences of living with DBA, understand developments in research and work towards greater global collaboration in our efforts to find a cure…..
After an early morning appointment to see Dr Josu De La Fuente, I caught a flight to Basel, Switzerland, followed by a coach to Freiburg in Germany. I’d finally arrived at the Hotel Stadt (10pm). The receptionist kindly handed me a welcome pack detailing the itinery; to my horror, we were meeting the next day at 7:45am!
In the morning, we were escorted to the auditorium within the University Medical Centre. Registration followed and we sat down to listen to the welcome address/introductions by Charlotte Niemeyer (Germany), Marcin Wlodarski (Germany), Alyson MacInnes (Netherlands) and Lydie Da Costa (France).
The next 4 hours (we did stop briefly for lunch!) focused on reports from participating countries with DBA registries or registries that needed to be created. Areas of focus included treatment protocol (transfusions, steroids, chelation) and findings based on patient data.
Some of the key data included the number of patients identified with DBA per country, – France (over 300), Germany (304), Switzerland (21), Austria (17), Italy (200), China (61), Korea (70) , the UK (102) and the US (720)………add to that another 200+ (exc. India) from the other countries represented and we start to see a clearer global picture of DBA’s impact.
After a brief interval, it was the patient support group’s turn. We were asked to give an overview of our support groups structure, treatment protocol (if any) and what Euro DBA can do for us.
There were a number of common themes raised by both the clinicians and the patient representatives:
- The importance of chelation/iron overload management. Limited research has been undertaken with respect to iron overload, however, it represents the biggest challenge re life expectancy. (Multiple organ damage can include the Pituitary gland, Thyroid, Heart, Liver, Pancreas…)
- Steroids – Discussions centered around the maximum dose that should be utilized and whether 1 or 2 trials should be undertaken (The general consensus was that providing the dosage was high enough for the first trial, a second trial should not be undertaken)
- There remains a lack of standardisation/disparity with respect to DBA care & management across Europe and the rest of the world. Examples include:
- Transfusion levels (one parent’s child was only transfused when below 5),
- The use of Next Generation Sequencing to help identify the mutated gene.
- The age MRI’s/biopsies are undertaken to identify iron overload (dry iron) and changes to BM cellularity.
- The maximum recommended steroid dose/tapering process
- Whether a bone marrow transplant should form part of the care pathway after a failed steroid trial.
Post the patients support group presentations, we were asked to join a specific task group to focus on an element of DBA. This included “Diagnostic challenges”, “Management of DBA in adults” and “platform for biological material exchange” (i.e. a formalised registry)
I attended the Patient network: International Handbook task group. We were asked to produce a first draft of a EuroDBA handbook aimed at patients, families and clinicians experiencing DBA for the first time.
Obviously, we have a leaflet within the downloads section of the DBA UK website and there is a significant amount of information via the DBA Foundation website, however, this represented a good opportunity to update the UK’s leaflet and assist other European countries that have yet to publish such a document.
I have volunteered to produce the first draft; this will naturally need to be ratified by EuroDBA Scientists, Josu et al.
At 7:30 we met for dinner at Greiffenegg Schlosse, a castle with fantastic views over Freiburg. It was a great opportunity to network with the patient representatives and other researchers/scientists. Never believe what you hear about a scientist; they can party!
On Saturday, we met at 8:30am – after a brief “open” session to summarise the previous day’s activities – we were given an opportunity to raise any specific thoughts/concerns re next steps. Collaboration is key!
The Scientific sessions followed – of particular interest were the recent studies undertaken re Mouse models/gene therapy.
I spoke to Stefan Karlsson at length; he believes the process is somewhat less intrusive than a BM transplant. Tests have only been undertaken with respect to the RPS19 mutation (most common). Stefan believes, subject to funding/licensing, a trial can be undertaken on patients within 5-10 years.
Other sessions included a presentation by Adrianna Vlachos (US) on new therapies, zebra fish models (Alyson MacInnes), screening for novel drugs (John Flygare) and iron overload (Regine Gross)
Post lunch, the respective task groups re-convened with a view to finalising next steps/consensus. We then had to provide a summary of our discussions to the wider group.
After Euro DBA formally closed the symposium, we returned to the Hotel to get ready for the vineyard excursion and dinner. Again, this gave me an opportunity to network and ask additional questions on behalf of DBA UK regarding research, funding and future collaboration…..
There is a significant amount of research being undertaken with respect to DBA and progress is clearly being made. The scientists I had the pleasure of meeting showed levels of sincerity and dedication that cannot be put into words.
We clearly need to work with Euro DBA to provide funding, support and build global bridges…..
I hope to be able to give you more details at the DBA family weekend in 2015.
The next Global Bridges meeting will be held in Vienna, June 2015.
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Latest research studies including Leucine (protein used by body builders), Lenalidomide and Sotatercept. Future directions include the use of p53 inhibitors (protein that regulates cell replication)
Gene Therapy – Mouse model”