The 28th Annual Meeting of the American Autonomic Society featured prominently the work of the NYU Dysautonomia Center Team and the collaborative projects of the RDCRN’s Autonomic Disorders Consortium.
NYU’s Dr. Horacio Kaufmann gave the 15th honorary Streeten lecture and recounted his clinical experiences that shaped his own understanding of autonomic neurology. Using the stories of 4 patients, Dr. Kaufmann described when he first encountered patients suffering from low blood pressure standing and how he followed them over the years as they developed additional signs of neurodegeneration in the brain linked to abnormal deposits of the protein synuclein. These cases laid the foundations for the Consortium’s natural history study, which is a collaborative effort to chart the clinical evolution of autonomic disorders caused by the misfolding of the rogue protein alpha-synuclein. Dr. Kaufmann presented the results of the first 100 patients that have been followed at the Consortium’s 5 initial sites at NYU, Vanderbilt, Beth Israel Deaconess, Mayo Clinic Rochester and intramural NIH. This data driven approach is helping us identify patients with synucleinopathies earlier and will become increasingly more important for trials of disease modifying therapies that are in the pipeline.
Principal investigator of the Autonomic Disorders Consortium, Dr. Italo Biaggioni, gave the first David Robertson lectureship covering the topic of supine hypertension. In addition to low blood pressure standing (a condition known as orthostatic hypotension), patients with neurodegenerative diseases like Parkinson disease and multiple system atrophy frequently suffer from high blood pressure when lying flat. This can have devastating effects on the organs like the heart and the kidney. Dr. Biaggioni drove home the importance of detecting supine hypertension and the available treatment options for managing it.
Support from the Dysautonomia Foundation, PTC Therapeutics and Alnylam enabled the AAS to host a symposium on the genetics of autonomic disorders. Dr. Lucy Norcliffe-Kaufmann spoke about rare inherited autonomic neuropathies including familial dysautonomia and congenital insensitivity to pain with anhidrosis. She explained the origins of the mutations, and how these gene defects give rise to entirely different neurological deficits and distinct clinical features. Dr. Alejandra Gonzalez Duarte, former graduate of the autonomic disorders fellowship program at NYU, spoke about the exciting new developments in genetic-based strategies to treat familial amyloidosis. Dr. Lucia Schottlaender spoke about how genes may hold the key to explaining our inherent susceptibility to rare autonomic disorders like multiple system atrophy.
NYU’s Dr. Alberto Palma received the Don Summer’s Travel Award, recognizing the work of the RDCRN’s Global MSA Registry and the online MSA survey. The project is a partnership between the MSA Coalition, the Autonomic Disorders Consortium and the Rare Disease Clinical Research Network (RDCRN) at the NIH. Dr. Palma presented the results of the e-MSA survey, which aimed to capture the patient’s voice along with clinical data. Several trainees from other sites within the Autonomic Disorder’s Consortium were winners of the travel fellowship awards.
Dr. Cyndya Shibao, Chair of the AAS Meeting Committee and an investigator in the Autonomic Disorders Consortium, organized several successful events for trainees, clinical fellows and young faculties. This included a poster competition and a series of round tables, where they interacted with established investigators to learn about career opportunities and received advice about their current research. As Dr. Shibao explained, “It is critically important to engage the next generation of autonomic scientists and clinician educators, who will carry the field forwards. This is an emerging subspecialty and we want to make sure that those training in the field have all the support they need to become independent scientists and rounded autonomic specialists”.
The MSA Coalition, a patient advocacy group, played an important role in supporting the meeting so that advances in multiple system atrophy could be shared with the scientific community. Dr. Pietro Cortelli spoke about the importance of recognizing sleep disorders in patients with MSA. The Consortium’s investigator Dr. Wolfgang Singer shared the ongoing results of the Mayo Clinic Stem Cell Trial in multiple system atrophy. Dr. David Goldstein presented his work on skin biopsies and neuroimaging, which may help towards earlier diagnosis of neurodegenerative autonomic disorders. The Consortium’s team from Beth Israel Deaconess Medical Center, headed by Dr. Roy Freeman, shared their results on the trial of immune therapy and the lessons learned from the extremely rare disease autoimmune autonomic ganglionopathy.
“ We want to make sure that those training in the field have all the support they need to become independent scientists and rounded autonomic specialists”. – Dr. Cyndya Shibao, Investigator within the Consortium
The annual AAS meeting showed how quickly the science is moving. As the Consortium’s PI Dr. Italo Biaggioni explained “I am impressed how the innovative science of the Consortium is driving new discoveries and helping us understand these diseases better. Partnership with advocacy groups is critical to ensuring that the progress being made can be shared with the autonomic community at large during scientific meetings.”
The annual meeting of the American Autonomic Society marked the 28th year that clinical autonomic researchers have come together to share ideas and present their work. Since it’s humble beginnings in 1990, the Society’s annual congress has grown into the biggest meeting of autonomic clinicians in the world. As Dr. David Robertson, founding member of the Consortium and the Society retired this year, it is clear he is leaving the field in excellent hands, as it grows from strength to strength.
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