How N-glycosylation of light chains affects AL amyloidosis diagnosis and treatment
Investigating the Pathogenic Role of N-glycosylation in AL Amyloidosis: Molecular Bases, Diagnosis, and Treatment
This project will test whether a sugar modification called N-glycosylation on immunoglobulin light chains helps cause disease or changes how AL amyloidosis and related monoclonal gammopathies behave in adults.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 18 Years to 99 Years |
| Sex | All |
| Sponsor | Fondazione IRCCS Policlinico San Matteo di Pavia Academic / other |
| Locations | 1 site (Pavia, PV) |
| Trial ID | NCT07448779 on ClinicalTrials.gov |
What this trial studies
This observational project collects peripheral blood and, when planned, bone marrow samples from adults with monoclonal gammopathies and analyzes their immunoglobulin light chains for N-glycosylation and other molecular features. Laboratory methods such as protein sequencing and mass spectrometry will be used to detect glycosylation and structural changes in patient-specific light chains. Clinical data will be correlated with molecular findings to see if N-glycosylation predicts amyloid formation, organ involvement, or different responses to therapy. The goal is to clarify molecular determinants of light chain pathogenicity and identify potential diagnostic markers or stratification features for treatment.
Who should consider this trial
Good fit: Adults (≥18 years) with a diagnosed monoclonal gammopathy such as AL amyloidosis, MGUS, or multiple myeloma who can give informed consent and are scheduled for peripheral blood sampling with or without bone marrow aspiration.
Not a fit: People without a monoclonal gammopathy, those in complete hematologic response after anti-clonal therapy, children under 18, or anyone unwilling to provide consent or samples are not expected to receive benefit from participation.
Why it matters
Potential benefit: If successful, this work could lead to better tests to spot harmful light chains and help doctors choose treatments that work best for patients with N-glycosylated light chains.
How similar studies have performed: Anecdotal case reports and small series have linked N-glycosylation to amyloidogenic light chains, but systematic, larger-scale studies testing this mechanism and its clinical impact remain limited, making this approach partly novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosis of monoclonal gammopathy (e.g. AL amyloidosis, MGUS, MM, others) * Planned peripheral blood sampling +/- bone marrow aspiration * Age \> 18 years * Willingness to allow use of clinical data and diagnostic leftovers of clinical specimens for research purposes through signing a written informed consent. Exclusion Criteria: * Lack of monoclonal gammopathy * Patients fulfilling the criteria for complete hematologic response after anti-clonal therapy * Age \<18 years * Failure to show willingness to allow use of clinical data and diagnostic leftovers of clinical specimens for research purposes.
Where this trial is running
Pavia, PV
- Fondazione IRCCS Policlinico San Matteo di Pavia — Pavia, Pv, Italy (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.