International NBIA Symposium took place in Switzerland in October 2022

International NBIA Symposium took place in Switzerland in October 2022

In 2020, the last NBIA scientists' meeting took place only online due to the pandemic. In October 2022, for the first time since 2017, numerous actors in NBIA research finally met in person again for 3 days for 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 the guests, e.g. patient representatives, 91 people participated. Even though the 2020 online symposium had significantly more participants with 160 participants from 26 countries, a face-to-face meeting in a confidential setting offers much better conditions for individual scientists to exchange ideas with each other, 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 totaling $5,000 to early career scientists who would otherwise not have been able to afford to participate. 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, concludes: "Several junior scientists subsequently sent me emails 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 establish collaborations with other participants."

Wood reports lively discussions with many questions and ideas. Networking fostered interest in cooperation in order 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
• Tailor-made animal and cell models for preclinical tests
• Specific rating scales for clinical trials, based on natural disease progression
• Clinical therapy studies

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

Image: 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 was also held on the sidelines of the symposium. The NBIA Alliance is a network of international NBIA patient organisations that was set up 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 conversation with representatives of the U.S. pharmaceutical company CoA Therapeutics, which is currently preparing a clinical trial for PKAN. Members of four patient associations were on site in person, with the rest attending both sessions 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 made the organization of this symposium possible with their financial support. Hoffnungssbaum e.V. had also provided 5,000 € as a further sponsor. Since these funds were not needed, they will be donated to the Research Fund of Hoffnungsbaum e.V. again.

Sources and further information:
December 2022 newsletter from the NBIA Disorders Association (also image source), pp. 2-4:
https://www.nbiadisorders.org/news-events/nbia-newsletters/62-2022-newsletters/477-2022-december-newsletter

Fatemeh Mollet and NBIA Suisse website:
https://nbiasuisse.org/de/8th-international-symposium-on-nbia-2/

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 a first clinical trial for PKAN patients in the USA with a new drug called "CoA-Z" for the treatment of PKAN.

This first part of the study has now been completed and the 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.

In the end, the duration of the study had to be shortened due to pandemic-related problems with the supply chain. However, despite the COVID-19 pandemic, this decentralised study was initially able to be carried out without significant adjustments, as central hospital visits were not planned and all necessary data and samples could be sent to OHSU from the families' respective hometowns, 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 participated 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.

The next steps are to review all data and analyze the information by OHSU's statisticians, including data on complications, subjects' adherence to study rules, and clinical information from the PKANready natural disease course 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 working group in the UK expects to start its study this year. These studies are different from each other, and the team at OHSU hopes to find helpful information from the different studies that can drive the development of CoA-Z.

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

8th International Symposium on NBIA in Switzerland

8th International Symposium on NBIA in Switzerland

NBIA scientists will meet to share their research from October 13-15 in Lausanne, Switzerland, as part of the 8th International NBIA Symposium. More than 20 scientists and physicians from all over the world will present the results of their NBIA projects and learn about the latest developments in current NBIA research. The high-calibre programme includes presentations in particular on the most common NBIA variants PKAN, BPAN, MPAN, PLAN and FAHN and beyond, as well as subsequent discussions on the necessary next steps in the various NBIA research branches.

 

In a confidential atmosphere, the symposium also offers the opportunity to get to know the researchers personally and to network, also with regard to future cooperation in research projects. Clinically active physicians, most of whom also have research experience in NBIA, can also exchange their experiences with treatment options for NBIA patients and thus take new insights into their everyday clinical practice.

Hoffnungsbaum e.V. is one of the sponsors of this important NBIA event with €5,000, the first face-to-face meeting of NBIA researchers since 2017. In 2020, the symposium was only held online due to the pandemic. Our U.S. partner organization, the NBIA Disorders Accociation, is contributing $5,000 in the form of travel grants for early career scientists.

The symposium is organized by the Swiss NBIA patient organization NBIA Suisse under the leadership of its chairwoman Fatemeh Mollet. Under the chairmanship of Prof. Dr. Thomas Klopstock, head of the NBIA Center at the Friedrich Baur Institute in Munich, a 5-member scientific committee has taken over the program. For Hoffnungsbaum e.V. our chairman Markus Nielbock worked there as a patient representative.

Website of the symposium: https://nbiasuisse.org/8th-international-symposium-on-nbia/

Research project leads to a stem cell model of FAHN

Research project leads to a stem cell model of FAHN

A team of German scientists who received a $45,000 research grant from the NBIA Disorders Association in 2020 have successfully completed a stem cell model of FAHN to allow researchers to better understand the disease and test potential therapies for the disease.

FAHN (Fatty Acid Hydroxylase-associated Neurodegeneration) is a rare form of NBIA. The type of stem cell produced by the researchers is an induced pluripotent stem cell that can be programmed to develop into any type of human cell. The team developed the stem cells from skin fibroblasts of FAHN-Patients. This tissue contained copies of the mutated FA2H gene that causes the disease. The special ability of a stem cell to transform into any type of cell in the body now allows researchers to generate cells of the central nervous system that can be used by FAHN are affected.

The team was led by Dr. Andreas Hermann, together with Dr. Moritz Frech, Dr. Jan Lukas and PhD student Fatima Efendic from Rostock University Hospital. They collaborated with Dr. Sunita Venkateswaran from the University of Ottawa. She provided the skin fibroblast cell lines for research.

Researchers working at the FAHNresearch at the University Hospital Rostock,
from left to right: Dr. Jan Lukas, Dr. Moritz Frech, Fatima Efendic and Dr. Andreas Hermann.

The research project was entitled "In vitro disease modelling of fatty acid hydroxylase-associated neurodegeneration (FAHN): Patient-specific induced pluripotent stem cells and their neuronal derivatives as human models for FAHN".

Due to the COVID-19 pandemic, there were delays in the completion of the work, which is still ongoing. Third-party funding from the Center for Transdisciplinary Neurosciences Rostock at the University Medical Center Rostock will enable the project to continue until April 2023. 

The researchers plan to produce further induced pluripotent stem cell lines, each of which carries different disease-relevant mutations. One focus is the development of protocols for the differentiation of these cells into oligodendrocytes. 

Image: Wikipedia

In the central nervous system, oligodendrocytes form the myelin sheath that surrounds the axons of nerve cells and thus ensures rapid signal transmission. Since in the case of FAHNdegeneration of the myelin sheath occurs in patients, the team wants to investigate the causes of these disorders of the myelin sheath using the newly established model system.
With a better understanding of the abnormal changes in cell function that occur as the disease progresses, researchers can test potential therapies to see if they can understand the effects of FAHN can turn around.

A published article about the work, "Generation of the human iPSC line AKOSi010-A from fibroblasts of a FAHNpatient carrying the heterozygous mutation p.Gly45Arg/p.His319Arg" is available for download online: https://www.sciencedirect.com/science/article/pii/S1873506122002124
The latest results of the project will be presented at the 8th International Symposium on NBIA, which will take place from 13 to 15 October 2022 in Lausanne, Switzerland.

(Published and translated with permission of the NBIA Disorders Association. The original English appeared in the NBIA Disorders Association newsletter, September 2022, translated with the free version of https://www.deepl.com/translator)

CoA Therapeutics presents timeline towards PKAN clinical trial

CoA Therapeutics presents timeline towards PKAN clinical trial

CoA Therapeutics, a BridgeBio-affiliated company, has completed a Phase I study in healthy volunteers evaluating the safety, tolerability and drug-like properties of BBP-671. We are presenting the healthy volunteer data from the Phase I study at the 4th Pan American Congress on Parkinson's Disease and Movement Disorders, May 26-28, 2022.
In 2022, we are focusing on two activities: improving our formulation for PKAN patients and obtaining feedback on our clinical trial design from regulatory authorities in the EU and the US. Based on your feedback from the survey, we are developing small tablets for use in our clinical trial. We are working with the EMA and later in the year with the FDA to seek their advice on our clinical plans. These activities take time and we hope to open trial centers in the US and Europe in mid-2023.
We know that time is of the essence for people with PKAN and their families, and we are doing our best to move forward as quickly as possible.

Source: 13.03.2022, Communication from CoA-Therapeutics to the PKAN community

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