Supporting Early Diagnosis and Management of AL Amyloidosis and Related Conditions in Italy Through Biomarker Screening and Patient Referral

What this Trial Is About

Researchers are investigating AL amyloidosis, a rare and serious disease caused by abnormal proteins depositing in organs, leading to potentially life-threatening damage. This study aims to improve early diagnosis in at-risk patients, including those with monoclonal gammopathy of undetermined significance MGUS, altered free light chain ratio aFLCR, and smoldering multiple myeloma SMM. It will also help increase patient referrals to specialized centers and explore new diagnostic technologies such as light chain sequencing and N-glycosylation analysis. The study is observational and conducted in three parts. Part A involves active biomarker-based screening of pre-symptomatic amyloid organ involvement in at-risk patients within several Italian Hematologic Departments. Part B includes patients newly diagnosed with AL amyloidosis, either identified through Part A or routine clinical assessments, who will be referred to or managed at specialized centers. Part C uses data from Parts A and B to assess the clinical usefulness of advanced clonal light chain profiling methods. Participants will be involved in regular monitoring and clinical data collection, with samples stored in a biorepository. The research team will evaluate the number of patients diagnosed early through screening, responses to therapy, and links between light chain features and clinical outcomes. The study also tracks patient characteristics, outcomes over time, and the effectiveness of referral pathways, with a planned follow-up period of up to two years for outcome assessments.

Promoting Diagnosis and Management of AL in Italy (ProDigALIty)