Cycling for BPAN research - Million Dollar Bike Ride 2023

Cycling for BPAN research - Million Dollar Bike Ride 2023

Once again this year, the Million Dollar Bike Ride (MDBR) at the University of Pennsylvania in Philadelphia is raising funds for research into rare diseases. The 10th edition of the charity bike race will take place on June 10, 2023. 

https://www.milliondollarbikeride.org/

Once again, it is possible to participate virtually. This gives us in Germany the chance to be there again. Be it just by collecting donations or by actually cycling along, having fun and at the same time drawing attention to NBIA and especially BPAN with photos.

This year, 39 different organizations are participating and the NBIA variant BPAN is again represented by our partner organization NBIA Disorders Association (NBIA DA) in the USA.

The interesting thing about the MDBR is that the donations collected are doubled by the University of Pennsylvania for a sum between US$ 20,000 and 30,000. Last year, a $69,755 BPAN research grant was awarded to Professor Bertrand Mollereau, at ENS-Lyon in France. Our goal is to surpass the US$ 20,000 mark again in 2023 together with the NBIA DA in order to initiate a new research project!

You can participate virtually as a participant and document your activities or simply donate. Officially, however, every active participant must register. However, virtual participation is free of charge. Please register here: https://www.milliondollarbikeride.org/2023-cyclist-registration

Markus Nielbock has once again created a donation page: https://charity.pledgeit.org/f/Cj497fpqdR Through this page, you can donate directly to the organizers of the MDBR for BPAN research by credit card.

Impressions from last year, video: NBIA DA

However, as in previous years, you can also make your donations to Hoffnungsbaum transfer. As "Team BPAN Germany", we collect these funds and then transfer them to our partners in the USA. In this way, you will receive proof of tax settlement from us for your donation. Please indicate "MBDR 2023" or "Team BPAN Germany" as the reason for payment. It is best to use our online donation form: https://www.hoffnungsbaum.de/spenden/

From now on, you are all called upon to work with friends, relatives, acquaintances, celebrities, athletes, colleagues, sponsors, ... To become part of this team and to cycle and raise funds for BPAN research. Encourage people around you to participate. Launch actions in your environment and draw attention to BPAN.

Post photos and videos on social media to raise awareness of the action under the hashtags: #MDBR2023 and #TeamBPANGermany or on Twitter and Instagram @MDBRide4Rare and @milliondollarbikeride on Facebook. Take advantage of our photos and videos of our Team BPAN Germany Poster. You can also send us pictures to publish on this page or on our team website.

You are welcome to document your routes via the MDBR's STRAVA portal: https://www.milliondollarbikeride.org/strava

We are very confident that with your support and together with the NBIA DA, we will surpass the US$ 20,000 mark and double the donation amount again.

Contact person for the "Team BPAN Germany" of the MDBR 2023 is Markus Nielbock: markus.nielbock@hoffnungsbaum.de

 
 

Fundraising campaign by the Mühlacker Lions Club for Hoffnungsbaum e.V.

Fundraising campaign by the Mühlacker Lions Club for Hoffnungsbaum e.V.

Mühlacker, December 2022: As part of a club evening organized by the Mühlacker Lions Club, board member Hoffnungsbaum e.V. Board member Tiemo Durm had the opportunity to give a presentation about the association and its aims and background. The content was very well received by the Mühlacker Lions Club, which is why it was decided at its board meeting and general meeting to support Hoffnunsgbaum e.V. with a suitable fundraising campaign.

Picture: Donation handover - 5000 € from the Lions Club Mühlacker to Hofnungsbaum e.V.

This plan was immediately put into practice and the entire proceeds from the Lions Club sales stand at the Mühlacker Christmas market were donated to Hoffnungsbaum e.V. donated. The board of the Lions Club even decided to round up the sum collected from food and drink sales to an even €5,000 and donate it to Hoffnungsbaum e.V. to support further meaningful and high-quality research projects in the field of PKAN research.

Hoffnungsbaum e.V. would like to thank the Lions Club Mühlacker once again for their commitment and willingness to help!

As this presentation and the contact between the Lions Club board and Tiemo Durm that has existed since then may lead to the acquisition of further potential organizations, we would like to draw attention to the enormous reach and opportunity of such campaigns within the framework of the fundraising working group and motivate all club members and Hoffnungsbaum supporters to undertake similar campaigns. Various information material and general assistance in carrying out such campaigns can be requested from us at any time. Take courage - every single action counts and will hopefully help to develop and implement effective therapies for those affected.

International NBIA Symposium held in Switzerland in October 2022

International NBIA Symposium held in Switzerland in October 2022

In 2020, the last NBIA scientists' meeting only took place online due to the pandemic. In October 2022, for the first time since 2017, numerous players in NBIA research finally met again in person for three days at the 8th International NBIA Symposium in Lausanne.

Group photo with participants at the 8th NBIA Symposium 2022 in Lausanne

The conference attracted 80 official participants from 14 countries, 28 of whom were speakers. Including guests, e.g. patient representatives, 91 people took part. Even though the 2020 online symposium had significantly more participants, with 160 attendees from 26 countries, a face-to-face meeting in a confidential setting provides a much better framework for individual scientists to exchange information - even informally - about their NBIA projects and project ideas. It is not uncommon for such personal encounters to later lead to scientific collaborations.

The NBIA Disorders Association has awarded eight travel grants worth a total of 5,000 US dollars to young scientists who would otherwise not have been able to afford to attend. The young researchers were able to present their project results or disease-specific information in the form of posters at the symposium.

Participant Patricia Wood, founder and president of the NBIA Disorders Association, summarizes: "Several young scientists sent me emails afterwards telling me how valuable this experience was and that it motivated them to continue working on NBIA. It also gave them ideas for research and helped them form collaborations with other participants."

Wood reports lively discussions with many questions and ideas. The networking encouraged interest in collaborations to further explore some topics in mutual exchange. The event focused on the more common NBIA diseases such as PKAN/CoPAN, MPAN, BPAN, PLAN/INAD and FAHN.

The main topics of discussion were:
- Disease mechanisms and therapeutic approaches for NBIA diseases
- Customized animal and cell models for preclinical tests
- Specific evaluation scales for clinical studies, based on the natural course of the disease
- Clinical therapy studies

A committee of scientists headed by Thomas Klopstock from the Ludwig Maximilian University of Munich prepared the program for the symposium. In addition to Susan Hayflick from Oregon Health & Science University in Portland, Valeria Tiranti from the Neurological Institute C. Besta in Milan and Agnès Rötig from the Institute Imagine in Paris, Hoffnungsbaum Chairman Markus Nielbock and NBIA Disorders Association Chairman Patricia Wood (USA) were also members of this committee as patient representatives. On site in Lausanne, the patient organization NBIA Suisse, led by Fatemeh Mollet, organized the event, which had been postponed twice due to the pandemic, to ensure that everything ran smoothly.

Picture: NBIA Alliance representatives at the symposium
L-R: Roberta Scalise, AISNAF, Fatemeh Mollet, NBIA Suisse, Joost Schimmel, Stichting Ijzersterk, Patricia Wood, NBIA Disorders Association.

A meeting of the NBIA Alliance also took place on the fringes of the symposium. The NBIA Alliance is a network of international NBIA patient organizations that was established as part of the EU research project TIRCON and now has 10 members. The patient representatives discussed possible joint projects for the future as well as an update of the NBIA Alliance website. The NBIA Alliance also had a meeting with representatives of the US pharmaceutical company CoA Therapeutics, which is currently preparing a clinical trial for PKAN. Members of four patient associations were present in person, with the remainder attending both meetings via Zoom. For Hoffnungsbaum e.V. Chairman Markus Nielbock took part in the meetings virtually.

In addition to the NBIA Disorders Association and the Swiss Foundation for People with Rare Diseases, the three biotech sponsors Chiesi, CoA Therapeutics and Travere Therapeutics in particular made the symposium possible with their financial support. Hoffnungssbaum e.V., another sponsor, also provided €5,000. As these funds were not needed, they will be donated to the research fund of Hoffnungsbaum e.V. research fund.

Sources and further information:
December 2022 Newsletter of the NBIA Disorders Association (also image source), p. 2-4:
https://www.nbiadisorders.org/news-events/nbia-newsletters/62-2022-newsletters/477-2022-december-newsletter
Fatemeh Mollet and website of NBIA Suisse:
https://nbiasuisse.org/de/8th-international-symposium-on-nbia-2/

Care guidelines for PLAN/INAD are now in progress

Care guidelines for PLAN/INAD are now in progress

Translation of an English article by Patricia Wood

Thanks to the support of four organizations funding the project, consensus guidelines for the treatment and care of a form of NBIA known as PLAN or PLA2G6-associated neurodegeneration are now underway.

This is the third NBIA disorder for which researchers have developed best practices. The other two are more common forms of NBIA, PKAN and BPAN. PLAN encompasses a wide range of symptoms, and depending on the age of those affected and their symptoms, they can be categorized into one of three subtypes: INAD, aNAD or PLA2G6-related dystonia-parkinsonism.

Four organizations have joined forces to support "Best Practices in the Care and Treatment of People with PLAN". In addition to the NBIA Disorders Association, these are the INADcure Foundation, a US-based non-profit organization that advocates for people with INAD and other subtypes of PLAN, and the NBIA sister organizations Associazione Italiana Sindromi Neurodegenerative da Accumulo di Ferro (AISNAF) in Italy and Hoffnungsbaum e.V. in Germany.

Picture: Dr. Susan Hayflick from OHSU

Dr. Susan Hayflick of OHSU is the principal investigator, working with her colleagues Dr. Jennifer Wilson as lead author and Allison Gregory, MS, as project director. This group also developed the care guidelines for PKAN and BPAN.

The main aim of this project is to advise clinicians on the best and most acceptable approach to the diagnosis, care or treatment of PLAN and its three subtypes. As INAD is the most common form of PLAN, a major part of the guideline is likely to focus on this subtype.

Best practice will be covered in the following areas: diagnostic assessment, initial treatment, pharmacological and surgical care, monitoring for complications, emergency management, educational support, nutrition, psychosocial support and any other areas identified by participants.

Input will also be sought from other leading PLAN experts, as well as selected parents, caregivers and funding patient organizations. Members of the larger patient and family community and other patient organizations will be invited to review and comment on the final draft of the guideline within two weeks.

The project will take approximately 12 months to produce a draft for publication. The total cost is US$50,308, which consists of staff costs covering the time and labor of the project team with their expertise, project management and coordination. Other costs include publication fees for free public access to the paper and travel costs for presenting the results at two conferences within a year of publication.

Translated from: December Newsletter 2022 of the NBIA Disorders Association, p. 4/5:
https://www.nbiadisorders.org/news-events/nbia-newsletters/62-2022-newsletters/477-2022-december-newsletter
Translated with www.DeepL.com/Translator (free version)

INAD gene therapy is one step closer

INAD gene therapy is one step closer

Abridged translation of an English article by Patricia Wood

Work on a gene therapy for Infantile Neuroaxonal Dystrophy, known as INAD, received a major boost in October when a London-based biotech company announced its intention to help bring the therapy to market.

London-based Bloomsbury Genetic Therapies Limited, known as Bloomsbury, is to advance its efforts with the help of £5 million seed funding from the UCL Technology Fund. Bloomsbury is working on an adeno-associated virus (AAV)-based gene therapy called BGT-INAD for the treatment of INAD.

INAD is a form of PLA2G6-associated neurodegeneration or PLAN, which usually occurs between the ages of 6 months and 3 years and progresses rapidly. Many affected children do not survive their first decade of life. (...)

Bloomsbury benefits from the expertise of its academic scientists in the fields of gene therapy and rare diseases, including Professors Manju Kurian and Ahad Rahim from University College London. Kurian and Rahim have been working on a gene therapy treatment for INAD for eight years. The NBIA Disorders Association awarded the researchers a grant of USD 150,000 in 2014 to begin their work. This was followed by 655,000 pounds from the UK Medical Research Council.

Image: Researchers from University College London at the 8th International NBIA Symposium in October 2022, where they presented their work.
L-R: Professor Ahad Rahim, Dr. Apostolos Papandreou, Dr. Audrey Soo, Professor Manju Kurian, Dr. Robert Spaull.

Rahim presented the promising data for BGT-INAD at the 8th International NBIA Symposium in Lausanne in October 2022. Preliminary results show a significant improvement in survival and behavioral parameters in mice treated with BGT-INAD.

Dr. Audrey Soo, who is part of Professor Kurian's research group at UCL, also gave an update on preparations for a clinical gene therapy trial with BGT-INAD at the symposium. She said the work is based on a large retrospective natural history study of more than 300 INAD patients worldwide. (...)

UCL research has improved knowledge of INAD, including its key features and symptoms. Most importantly, researchers have developed a meaningful disease-specific rating scale for INAD and discovered potential biomarkers for blood and CSF. Once fully confirmed, the biomarkers can be used as outcome measures in clinical trials, accelerating the development and approval of potential treatments for INAD patients. Soo said she will continue the development and validation of INAD biomarkers throughout 2023.

Bloomsbury is working with researchers on an accelerated timeline to advance its gene therapy research programs into clinical trials as quickly as possible. Bloomsbury plans to complete the comprehensive efficacy evaluation for BGT-INAD in the INAD mouse model in the first quarter of 2023. The company will then focus on the required animal safety testing. It hopes that the accelerated clinical trial design will shorten the time to approval by regulatory authorities such as the European Medicines Agency or the US Food and Drug Administration so that it can make the therapy commercially available to treat patients.
Bloomsbury keeps its website up to date so that patients and relatives can find the latest information at https://bloomsburygtx.com about the latest developments. (...)

Full original version of the article and image source in the December 2022 newsletter of the NBIA Disorders Association, p. 6/7):
https://www.nbiadisorders.org/news-events/nbia-newsletters/62-2022-newsletters/477-2022-december-newsletter
Translated with the support of www.DeepL.com/Translator (free version)

PKAN study with CoA-Z completed in the USA

PKAN study with CoA-Z completed in the USA

From 2019 to 2022, Oregon Health & Science University in Portland (USA) conducted the first clinical trial for PKAN patients in the USA with a new preparation called "CoA-Z" for the treatment of PKAN.

This first part of the study has now been completed and analysis of the data has begun with the aim of determining the safety and tolerability of CoA-Z and whether it could be suitable as a therapy for PKAN. To do this, hundreds of biomarker blood samples collected and frozen over the course of three years must now be analyzed in the laboratory.

The duration of the study had to be shortened in the end due to pandemic-related problems with the supply chain. However, despite the COVID-19 pandemic, this decentralized study could initially be carried out without significant adjustments, as central clinic visits were not planned and all necessary data and samples could be sent to the OHSU from the families' respective homes, which was in line with the restrictions imposed by the pandemic anyway.

From December 2019 to September 2021, 77 children and adults with PKAN were enrolled in the study. The majority of the study participants took part as subjects until the end of their two-year study period or until the end of the active part of the study in summer 2022.

Next steps are for OHSU statisticians to review all data and analyze the information, including data on complications, subject adherence to study rules, and clinical information from the PKANready natural history study, which took place in parallel with the CoA-Z study.

Meanwhile, Dutch and British PKAN research teams are working on similar clinical trials. The study in the Netherlands is already well advanced and the UK team expects to start their study this year. These trials are different from each other and the team at OHSU is hoping to gain useful information from the different trials that can help drive the development of CoA-Z.

Source: December 2022 Newsletter of the NBIA Disorders Association, p. 11:
https://www.nbiadisorders.org/news-events/nbia-newsletters/62-2022-newsletters/477-2022-december-newsletter/

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