In 2017, SRNA created a patient registry. The purpose of the registry is to help advance research about rare neuroimmune disorders, collaborate with researchers from around the world, and identify participants for clinical trials. Many of our members have shared information about their diagnosis, treatment, and outcomes over the years. The information our community has shared continues to help us guide our programs and research, and we are grateful to all who have participated.
The SRNA registry has been designed to learn more about the natural history of rare neuroimmune disorders, treatments, and outcomes using standardized tools. In June of this year, we reviewed the data from the registry to analyze trends and identify points for follow-up examination and research. Below are some of the preliminary findings.
As of June 2020, there were 496 participants in the registry. 74% of respondents were diagnosed with transverse myelitis, 9% were diagnosed with neuromyelitis optica spectrum disorder, 5% were diagnosed with acute disseminated encephalomyelitis, 4% were diagnosed with acute flaccid myelitis, 4% were diagnosed with MOG antibody disease, and 2% were diagnosed with another disease or have yet to receive a diagnosis.
40% of participants in the registry were diagnosed less than one week after symptom onset, 22% were diagnosed within 1-3 weeks, and 7% were diagnosed within 4-6 weeks. 30% of participants received a diagnosis more than six weeks after symptom onset. 1% were unsure or did not know how long it took to receive a diagnosis.
84% of participants received treatment after their first acute attack. However, only 30% of participants received a second treatment that was different than the first, and 11% of participants were unsure or did not know if they received a second treatment. Most (80%) participants received rehabilitative therapy.
For current symptoms, 82% of participants currently have weakness or paralysis, 81% of participants currently have numbness or loss of sensation, and 64% of participants have spasticity or uncontrolled muscle spasms. 54% experience neck or back pain, 77% of participants experience neuropathic pain, and 71% of participants have bladder and/or bowel symptoms.
These results show that the majority of patients did not receive a quick diagnosis (less than a week) after their onset of symptoms, which can delay the administration of acute treatments. Time is critical in the early stages of a rare neuroimmune inflammatory attack, so quicker diagnoses are needed to start acute treatments and prevent damage to the central nervous system. Further, less than one third of participants in the registry received a second acute treatment during their initial inflammatory attack. While more research is needed to determine the effectiveness of a second form of acute treatments, steroids, plasmapheresis (PLEX), IVIG, and cyclophosphamide have all been used during the onset of these disorders.
Rehabilitation is important for restoring function following a rare neuroimmune diagnosis. While 80% of the participants received rehabilitative therapy, 20% of participants did not receive any rehabilitation following their diagnosis. Further advocacy is needed to educate physicians and medical professionals on the importance of rehabilitation following these disorders.
The majority of participants experience lasting symptoms following their diagnosis of a rare neuroimmune disorder, including weakness, paralysis, numbness, pain, spasticity, bladder dysfunction, and bowel dysfunction. While there are currently a variety of methods for treating these symptoms, more research is needed to improve the quality of life for these individuals and find stronger solutions for symptom management.