Translation of an English article by Patricia Wood
Thanks to the support of four organisations funding the project, consensus guidelines for the treatment and care of a form of NBIA known as PLAN or PLA2G6-associated neurodegeneration are now in the works.
This is the third NBIA condition 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 the sufferers and their symptoms, they can be classified into one of three subtypes: INAD, aNAD, or PLA2G6-related dystonia-parkinsonism.
Four organisations 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 U.S.-based nonprofit organization that advocates for people with INAD and other subtypes of PLAN, as well as NBIA's sister organizations, Associazione Italiana Sindromi Neurodegenerative da Accumulo di Ferro (AISNAF) in Italy and Hoffnungsbaum e.V. in Germany.
Image: Dr. Susan Hayflick from OHSU
Dr. Susan Hayflick of OHSU is the lead researcher, collaborating with her colleagues Dr. Jennifer Wilson as lead author and Allison Gregory, MS, as principal investigator. This group has also developed the care guidelines for PKAN and BPAN.
The main objective of this project is to advise clinicians on the best and most acceptable course of action in the diagnosis, care or treatment of PLAN and its three subtypes. Since INAD is the most common form of PLAN, a larger portion of the guideline is likely to focus on this subtype.
Good practices will be covered in the following areas: diagnostic assessment, initial treatment, pharmacological and surgical care, observation for disease complications, emergency management, educational support, nutrition, psychosocial support and all other areas mentioned by the participants.
Other leading PLAN experts are also invited to contribute, as well as selected parents, carers and the funding patient organisations. Members of the larger patient and family community and other patient organisations are invited to review and comment on the final draft of the guideline within two weeks.
The project will take about 12 months to submit a draft for publication. The total cost is $50,308, which is made up of personnel costs that cover the time and work 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 meetings within one year of publication.
Translated from: NBIA Disorders Association December 2022 Newsletter, p. 4/5:
Translated with www.DeepL.com/Translator (free version)