H004 Using real-world data to understand symptoms and treatment care patterns among patients with Huntington’s Disease

<h3>Background</h3> Huntington’s Disease (HD)—a genetic, neurological disorder with psychiatric, cognitive, and motor symptoms—impacts functioning and quality of life. An ongoing, US-based, real-world registry study, RISE-HD (Real-world Integrated Evidence Study in HD), explores HD diagnosis, treatment care patterns, and patient journeys. <h3>Aims</h3> Describe HD symptom timing, frequency, and care management. <h3>Methods</h3> RISE-HD enrolled adults with clinician-confirmed HD diagnosis or mutant huntingtin gene carriers using PicnicHealth’s research platform. Clinical data from medical records were abstracted and aggregated using human-validated machine learning. <h3>Results</h3> Overall, 385 patients (data as of October 2023) were included (mean CAG repeat length=43.99 [SD=3.90]; N=288). Diagnostic evaluations included Patient Health Questionnaire-9 (available for 37% of patients), Montreal Cognitive Assessment (24%) and Mini-Mental State Examination (10%). Common symptoms (1-year pre-/post-diagnosis) were psychiatric (20% vs 29%), motor (13% vs 21%), and cognitive (8% vs 14%). During 1-year post-diagnosis, care visits (N=385) included: neurology (44%), primary care (26%), genetics (8%), psychiatry (7%), physical therapy (6%), social work (6%), psychology (5%), speech pathology (4%). Over total post-diagnosis period (variable by patient), antidepressant (sertraline 22%, escitalopram 12%), anxiolytic (clonazepam 15%, lorazepam 11%), and anti-psychotic (risperidone 14%, aripiprazole 12%, olanzapine 10%) utilization was generally higher than VMAT2 inhibitors (deutetrabenazine 15%, tetrabenazine 8%, valbenazine 1%). <h3>Conclusions</h3> Despite high HD disease burden and greater symptom prevalence post-diagnosis, ≤1/3 of patients had each symptom and pharmacological treatment recorded over 1-year post-diagnosis, underestimating patient burden. Supplementing medical records with patient/caregiver-reported outcomes may help understand holistic patient experiences. Drug utilization patterns in clinical practice should be further investigated. <h3>Disclosures</h3> VS has served as a consultant for Sage Therapeutics, Inc, Genentech, Teva Neuroscience, and Neurocrine. RS, AL, KP, YS, and JP are employees of Sage Therapeutics, Inc. and may hold stock/stock options. PK is an employee of PicnicHealth, a vendor to Sage Therapeutics, Inc. which received fees from Sage Therapeutics, Inc. for the conduct of this study. <h3>Funding</h3> This study was funded by Sage Therapeutics, Inc. (Cambridge, MA, USA). Medical writing and logistical support were provided by Boston Strategic Partners, Inc. (funded by Sage Therapeutics, Inc.).