Abstract Details

Title Genetic Testing for Hereditary ATTR Amyloidosis: Insights from the hATTR Compass Program

Topic General Neurology

Presentation(s) P14 - Poster Session 14 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-002

Objective To report real-world data from the hATTR Compass Program for patients suspected of having hereditary transthyretin (hATTR) amyloidosis.

Background hATTR amyloidosis is a progressive and fatal disease that results from the deposition of misfolded transthyretin (TTR) protein in major organs and systems, leading to multisystem dysfunction, including peripheral neuropathy, cardiomyopathy, and autonomic dysfunction. The hATTR Compass Program offers anonymous, confidential genetic testing and counseling to patients suspected of having, or with a family history of, hATTR amyloidosis in the United States, Canada, and Puerto Rico.

Design/Methods This study analyzed data from 165 patients with TTR mutations sequentially identified by the hATTR Compass Program. DNA samples were scanned for TTR mutations associated with hATTR amyloidosis using a single-gene test, a 92-gene panel or an 81-gene panel targeting patients with a mixed phenotype or predominantly polyneuropathy, respectively.

Results The most commonly identified mutations were p.V142I/V122I (n=130), p.V50M/V30M (n=10), and p.T80A/T60A (n=12). The average patient age was 64.8 years (range: 25–87 years) and 53.9% were male (n=89/165). Within the patients testing positive for a TTR mutation, 62 (37.6%) had a known family history, while 88 (53.3%) and 15 (9.1%) patients had no family history or did not know, respectively. The TTR mutation-positive patients were 66.7% (110/165) African American, 16.4% (27/165) white, 6.1% (10/165) other ethnicities, and 10.9% (18/165) unknown. The majority of patients that tested positive for TTR mutations were referred by a cardiologist (110/165; 66.7%), while neurologists referred 8/165 (4.8%) patients. Patients were reported to have a clinical history of sensory, motor, and autonomic dysfunction, along with gastrointestinal dysfunction, heart disease, bilateral carpal tunnel syndrome, and lumbar spinal stenosis.

Conclusions Diagnosis of hATTR amyloidosis is challenging, but recognition of its symptoms and subsequent genetic testing through the hATTR Compass Program can facilitate diagnosis of this debilitating, fatal disease.

Authors/Disclosures
Sami L. Khella, MD, F�鶹��ýӳ�� (Presbyterian Med Ctr/Dept of Neuro) PRESENTER	Dr. Khella has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Ionis. Dr. Khella has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ionis. Dr. Khella has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Pfizer. Dr. Khella has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alnylam. Dr. Khella has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Eidos.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Grace Trentin, PhD (Allergan Inc.)	No disclosure on file

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