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 took place online only due to pandemic. In October 2022, for the first time since 2017, numerous stakeholders in NBIA research finally met again in person for 3 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 them as speakers. Including guests, e.g. patient representatives, 91 people attended. Even though the Online Symposium 2020 had significantly more participants with 160 from 26 countries, a personal meeting in a confidential setting offers significantly better conditions for an - also informal - exchange among individual scientists about their NBIA projects and project ideas. Not infrequently, such personal encounters later lead to scientific collaborations.

The NBIA Disorders Association awarded eight travel grants totaling $5,000 to early-career scientists who otherwise could not have afforded to attend. The young investigators were able to present their project findings 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 early career scientists emailed me afterwards to say how valuable the 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. Networking fostered interest in collaborations to further explore some topics through mutual exchange. The event focused on the more common NBIA disorders such as PKAN/CoPAN, MPAN, BPAN, PLAN/INAD, and FAHN.

Discussion topics were:
- Disease mechanisms and therapeutic approaches in NBIA disorders.
- Precisely fitting animal and cell models for preclinical tests
- Specific rating scales for clinical trials, based on the natural history of disease.
- Clinical therapy studies

A committee of scientists headed by Thomas Klopstock of Ludwig Maximilian University in Munich had prepared the program of 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, members of this committee as patient representatives included Hoffnungsbaum chairman Markus Nielbock and NBIA Disorders Association chairman Patricia Wood (USA). On site in Lausanne, under the leadership of Fatemeh Mollet, the patient organization NBIA Suisse had organized the event, which had been postponed twice due to the pandemic, in order 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 organizations that was established as part of the EU TIRCON research project and now has 10 members. The patient advocacy groups 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 U.S. pharmaceutical company CoA Therapeutics, which is currently preparing a clinical trial for PKAN. Members of four patient associations were there in person, and the rest attended both meetings via Zoom. For Hoffnungsbaum e.V. chairman Markus Nielbock participated virtually in the meetings.

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 another sponsor. Since these funds were not used, they will be donated to the research fund of Hoffnungsbaum e.V. will benefit again.

Sources and further information:
December 2022 Newsletter of 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

Oregon Health & Science University in Portland (USA) has conducted a first-in-class clinical trial for PKAN patients in the U.S. from 2019 to 2022 with a new compound 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 stored frozen over the course of three years now need to be analyzed in the laboratory.

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

From December 2019 to September 2021, 77 children and adults with PKAN were enrolled in the study. A majority of the study participants participated as subjects until the end of their respective two-year study periods or until the end of the active portion of the study in the summer of 2022.

Next steps include review of all data and analysis of information by OHSU statisticians, including data on complications, subject compliance with study rules, and clinical information from the PKANready natural history study, which ran concurrently with the CoA-Z study.

Meanwhile, Dutch and British PKAN research teams are working on similar clinical trials. The study in the Netherlands is well advanced and the UK team expects to start their study this year. These studies differ from each other, and the team at OHSU hopes to gain helpful information from the differently conducted studies that can advance 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/

8th International Symposium on NBIA in Switzerland

8th International Symposium on NBIA in Switzerland

NBIA scientists will meet to share their research Oct. 13-15 in Lausanne, Switzerland, at the 8th International NBIA Symposium. More than 20 scientists and physicians from around the world will present the results of their NBIA projects, including the latest developments in current NBIA research. The high-level program will include presentations especially on the most common NBIA variants PKAN, BPAN, MPAN, PLAN and FAHN and beyond, followed by discussion sessions on the necessary next steps in the diverse NBIA research branches.

 

In a confidential atmosphere, the symposium also offers the opportunity for researchers to get to know each other personally and to network, also with a view to future collaborations on research projects. Clinicians, most of whom also have research experience in NBIA, can also share their experiences with treatment options for NBIA patients and thus take new insights back with them into their daily clinical routine.

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

The symposium is organized by the Swiss NBIA patient organization NBIA Suisse under the leadership of its chairperson 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 design. For Hoffnungsbaum e.V. our chairman Markus Nielbock participated as a patient representative.

Symposium website: 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 German team of scientists, who received a $45,000 research grant from the NBIA Disorders Association in 2020, successfully produced a stem cell model of FAHN to help researchers better understand the disease and test potential therapies for it.

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 from 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 the researchers to generate cells of the central nervous system affected by FAHN .

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 the research.

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

The research project was entitled "In vitro disease modeling 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 Neuroscience Rostock at the University Medical Center Rostock allows the continuation of the project until April 2023. 

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

Image: Wikipedia

Oligodendrocytes form the myelin sheath in the central nervous system, which surrounds the axons of the nerve cells and thus ensures rapid signal transmission. Since degeneration of the myelin sheath occurs in FAHN patients, the team wants to investigate the causes of these myelin sheath disorders using the newly established model system.
With a better understanding of the abnormal changes in cellular function that occur during disease progression, researchers can test potential therapies to see if they can reverse the effects of FAHN .

A published article on the work, "Generation of the human iPSC line AKOSi010-A from fibroblasts of a FAHN patient 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 be held in Lausanne, Switzerland, October 13-15, 2022.

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

CoA Therapeutics unveils timeline on path to PKAN clinical trial

CoA Therapeutics unveils timeline on path to PKAN clinical trial

CoA Therapeutics, a BridgeBio affiliate, has completed a Phase I healthy volunteer study evaluating the safety, tolerability and drug-like properties of BBP-671. We will present healthy volunteer data from the Phase I study at the 4th Pan-American Congress on Parkinson's Disease and Movement Disorders, which will be held May 26-28, 2022.
In 2022, we are focusing on two activities: improving our formulation for PKAN patients and gathering 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, the FDA to seek their advice on our clinical plans. These activities take time and we hope to open trial sites in the U.S. and Europe in mid-2023.
We know that time is of the essence for individuals with PKAN and their families, and we are doing our best to move forward as quickly as possible.

Source: 03/13/2022, communication from CoA Therapeutics to the PKAN community.

Subscribe to our Hoffnungsbaum newsletter!

With our newsletter emails you will receive valuable information about NBIA. If you would like to subscribe to additional info on individual NBIA variants or special info for researchers/clinicians besides the general newsletter, please click here: Subscribe additional info

Privacy policy

You have successfully registered!

*Mandatory information, you can unsubscribe from this service at any time.