Screening Tool Development: ATTR Amyloidosis Survey and Interviews
A multi-centre study evaluating AMY-DETECT® for early identification of ATTRv-PN among patients with neuropathy
Challenges
Delayed Diagnosis & Disease Recognition
Heterogeneous symptoms, phenotypic overlap with other neuropathies, and limited disease recognition contribute to delayed diagnosis.
Need for Scalable Screening
Limited scalability of existing diagnostic approaches highlights the need for a simple, patient-friendly tool to support earlier identification of patients at risk.
Optimising Existing Screening Approaches
While AmyloScan® showed strong discriminatory value for ATTRv-PN, a more accessible electronic, patient-reported approach was needed to facilitate broader screening.
Objectives & Endpoints
Early Identification
Assess the ability of AMY-DETECT®, a German-language electronic patient-reported tool, developed to enhance AmyloScan® by validating existing questions, to support early identification of patients with ATTRv-PN.
Differentiation of Neuropathies
Assess the tool’s ability to differentiate patients with ATTRv-PN from other/unclassified neuropathies.
Facilitating Diagnostic Pathways
Generate evidence to support earlier diagnosis and inform decisions around genetic testing and specialist referral.
Our Approach
Screening Tool Development
Leveraged the pre-work of an academic specialist centre to develop a self-reported version of the screening questionnaire.
Mixed-Methods Research
Combined qualitative interviews, and quantitative surveys to inform tool development and evaluate patient responses.
Multi-Centre Validation
Assessed AMY-DETECT® across 12 amyloidosis centres in Germany, Austria, and Switzerland, with participation from two ATTRv patient advocacy groups.
Key Findings
Validated Screening Tool: 257 patients completed AMY-DETECT®, including 66 with ATTRv-PN and 52 with other neuropathies, supporting refinement of the screening questionnaire.
Clinically Relevant Cut-Offs: ≥5/17 indicated increased likelihood of ATTRv-PN (83% sensitivity, 61% specificity), while ≥6/17 indicated higher likelihood (76% sensitivity, 73% specificity).
Strong Discriminatory Performance: AMY-DETECT® showed good discriminative value to distinguish patients with ATTRv-PN from those with another neuropathy.
Business Impact & Outcomes
Screening Potential: Demonstrated the potential of AMY-DETECT® to identify patients with ATTRv-PN among those with neuropathy.
Diagnostic Pathway Support: Established clinically relevant cut-offs to support identification of patients for further evaluation.
Scientific Dissemination: Presented study findings at a Scientific Congress, supporting knowledge sharing on early identification of ATTRv-PN.