AL Amyloidosis, Amyloid Cardiomyopathy, ATTR Amyloidosis, Systemic Amyloidosis
Conditions
Keywords
ATTR, AL, systemic amyloidosis
Brief summary
This registry is an observational, multicenter, retrospective and prospective, non-pharmacological study designed to collect and analyze data from patients with systemic amyloidosis treated in inpatient and outpatient cardiology, hematology, nephrology, and neurology departments across Hungary. The registry was established in 2025.
Detailed description
Systemic amyloidosis is being diagnosed with increasing frequency worldwide. Owing to recent advances in diagnostic and therapeutic modalities, the disease has received growing clinical attention in recent years. Over the past two decades, the annual number of newly diagnosed light-chain amyloidosis (AL) cases has remained stable in major international amyloidosis centers, whereas the incidence of amyloid A (AA) amyloidosis has shown a progressive decline, likely attributable to the availability of modern therapies for chronic inflammatory diseases. An increasing number of patients are being diagnosed with transthyretin amyloidosis (ATTR) globally. This trend is partly related to improvements in diagnostic techniques and their broader accessibility, as well as to heightened clinical awareness among healthcare professionals. In addition, the emergence of several disease-specific therapeutic options for ATTR amyloidosis has further contributed to increased case recognition and diagnosis. The rising prevalence of systemic amyloidosis suggests that the condition may not be as rare as previously considered, but rather historically underrecognized due to limited awareness and insufficient diagnostic attention. In response to the continuously increasing number of patients, the need has emerged for a centralized national database into which data from all centers involved in the care of patients with systemic amyloidosis across Hungary can be entered. The primary objective of this study is to characterize the demographic, epidemiological, and clinical data of patients with systemic amyloidosis in Hungary, as well as current national practices in diagnostic and therapeutic management and disease prognosis. Our long-term objective is to establish collaboration among healthcare centers involved in the care of patients with systemic amyloidosis in Hungary. This aim will be supported by the systemic amyloidosis registry (AMYREG). The registry will include demographic data, key imaging and laboratory parameters, as well as clinically relevant disease-specific and therapeutic data for all patients diagnosed with systemic amyloidosis in Hungary. Retrospective data collection will also be possible for patients previously diagnosed, including deceased patients. This will enable the creation of a large, unified database allowing both prospective and retrospective follow-up of registered patients. This approach will expand knowledge regarding disease course, patient survival, prognostic factors, organ involvement, diagnostic challenges, and treatment strategies across all types of systemic amyloidosis. Furthermore, it will allow assessment of the regional distribution of diagnostic practices in Hungary and characterization of the Hungarian patient population in comparison with international data. These insights are intended to improve patient care. The study includes two patient cohorts: first, patients diagnosed with systemic amyloidosis will be prospectively enrolled from the initiation of the registry and followed longitudinally; second, patients diagnosed within the 12 months preceding study initiation may also be entered into the registry retrospectively. This is a non-interventional clinical study in which treating physicians regularly enter newly collected data from prospectively enrolled patients into the system. Data collection corresponds to secondary use of data. Patient information is provided by the treating physician. Subsequently, patients' clinical follow-up continues, and additional data may be entered retrospectively into the system. In the future, statistical analyses will be performed on the collected data, with the aim of generating scientific conclusions and publications. Data sources include electronic health records from local hospitals and healthcare providers. The study design is characterized by secondary use of data, in which relevant clinical events have already been collected as part of routine clinical practice for other purposes. The study involves secondary data utilization and does not include the collection or evaluation of adverse events as a study objective. Accordingly, no dedicated safety data collection is performed. However, if an investigator becomes aware of a spontaneous adverse event during the study period, it will be reported independently of the study through standard reporting procedures.
Interventions
None listed
Sponsors
Semmelweis University
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Diagnosis of systemic amyloidosis * Patients aged ≥18 years at the time of enrollment * Signed informed consent form by the patient * Treating physician's consent * Availability of accessible medical history
Exclusion criteria
* Lack of informed consent in the prospective study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Sex of Participants at Diagnosis | Baseline | Sex (male or female as recorded in the medical record) of participants at the time of systemic amyloidosis diagnosis |
| Age at Diagnosis | Baseline | Age of participants in years at the time of systemic amyloidosis diagnosis |
| Place of Residence at Diagnosis (Postal Code Level) | Baseline | Participant place of residence recorded at the time of systemic amyloidosis diagnosis, reported at postal code (ZIP code) level. No street-level address information will be collected |
| Treating Institution at Diagnosis | Baseline | Healthcare institution where the participant received the initial diagnosis of systemic amyloidosis |
| Systemic Amyloidosis Subtype at Diagnosis | Baseline | Classification of systemic amyloidosis subtype (e.g., AL, ATTR, AA, or other specified subtype) as determined at the time of diagnosis according to clinical, histological, and/or laboratory criteria recorded in the medical record |
| Date of Symptom Onset | Baseline | Date when the first symptoms attributable to systemic amyloidosis were first documented or reported by the participant, as recorded in the medical record. Symptoms refer to clinical manifestations later attributed to systemic amyloidosis |
| Date of Systemic Amyloidosis Diagnosis | Baseline | Date on which systemic amyloidosis was first formally diagnosed based on clinical, histological, and/or laboratory criteria as documented in the medical record. The date corresponds to the first confirmed diagnosis recorded in the healthcare system |
| Time from Symptom Onset to Systemic Amyloidosis Diagnosis (Days) | Baseline | Time interval in days between first reported symptom onset attributable to systemic amyloidosis and date of first confirmed diagnosis of systemic amyloidosis. The variable is calculated as the difference between the date of symptom onset and the date of diagnosis based on medical record data |
| Category of Presenting Symptom Leading to Systemic Amyloidosis Diagnosis | Baseline | Categorized main presenting symptom prompting diagnostic evaluation for systemic amyloidosis, based on predefined clinical categories (cardiac, renal, neurological, gastrointestinal, constitutional, or other). Classification is based on medical record review at the time of diagnosis |
| Organ Involvement at Diagnosis | Baseline | Presence of organ involvement due to systemic amyloidosis at the time of diagnosis, categorized as cardiac, renal, neurological, gastrointestinal, or other involvement based on predefined clinical criteria documented in the medical record |
| Biopsy Performed During Diagnostic Workup | Baseline | Whether a tissue biopsy was performed during the diagnostic evaluation of systemic amyloidosis. Biopsy refers to any tissue sampling procedure (e.g., fat pad, bone marrow, or organ biopsy) performed as part of the diagnostic workup, as documented in the medical record |
| Bone Scintigraphy Performed During Diagnostic Workup | Baseline | Whether a bone scintigraphy study (e.g., 99mTc-PYP, 99mTc-DPD, or 99mTc-HMDP) was performed during the diagnostic evaluation of systemic amyloidosis, as documented in the medical record |
| Cardiac MRI Performed During Diagnostic Workup | Baseline | Whether a cardiac magnetic resonance imaging (MRI) study was performed during the diagnostic evaluation of systemic amyloidosis, as documented in the medical record |
| Carpal Tunnel Syndrome Present at Diagnosis | Baseline | Whether carpal tunnel syndrome was present or previously diagnosed at the time of systemic amyloidosis diagnosis, as documented in the medical record |
| Polyneuropathy Disability (PND) Score at Diagnosis | Baseline | Polyneuropathy Disability (PND) score at the time of systemic amyloidosis diagnosis, assessed using the standard PND classification (Grade 0-IV), as documented in the medical record. The PND score reflects the severity of peripheral neuropathy |
| NT-proBNP Level at Diagnosis | Baseline | Plasma N-terminal pro-B-type natriuretic peptide (NT-proBNP) concentration measured at the time of systemic amyloidosis diagnosis, as recorded in the medical record. Values are reported in standard clinical units (e.g., pg/mL) |
| High-sensitivity Troponin T Level at Diagnosis | Baseline | Serum high-sensitivity cardiac troponin T (hs-cTnT) concentration measured at the time of systemic amyloidosis diagnosis, as recorded in the medical record. Values are reported in standard clinical units (e.g., ng/L) |
| Estimated Glomerular Filtration Rate (eGFR) at Diagnosis | Baseline | Estimated glomerular filtration rate (eGFR) measured at the time of systemic amyloidosis diagnosis, calculated using a standardized equation (e.g., CKD-EPI), as recorded in the medical record. Values are reported in mL/min/1.73 m² |
| Serum Kappa Free Light Chain Level at Diagnosis | Baseline | Serum concentration of kappa free light chains measured at the time of systemic amyloidosis diagnosis, as recorded in the medical record. Values are reported in mg/L using a standardized immunoassay |
| Serum Lambda Free Light Chain Level at Diagnosis | Baseline | Serum concentration of lambda free light chains measured at the time of systemic amyloidosis diagnosis, as recorded in the medical record. Values are reported in mg/L using a standardized immunoassay |
| Serum Immunofixation Result at Diagnosis | Baseline | Result of serum immunofixation electrophoresis performed at the time of systemic amyloidosis diagnosis. Results are categorized as positive or negative, and when positive, the detected monoclonal protein type (e.g., kappa, lambda, or other) is recorded as documented in the medical record |
| Interventricular Septum Thickness by Echocardiography at Diagnosis | Baseline | Interventricular septal thickness measured by transthoracic echocardiography during diagnostic evaluation of systemic amyloidosis. Measurement is reported in millimeters (mm) as recorded in the medical record |
| Aortic Valve Stenosis Present at Diagnosis | Baseline | Presence of clinically diagnosed aortic valve stenosis at the time of systemic amyloidosis diagnosis, based on echocardiographic findings and/or medical record documentation |
| New York Heart Association (NYHA) Functional Class at Diagnosis | Baseline | Heart failure functional status assessed using the New York Heart Association (NYHA) classification (Class I-IV) at the time of systemic amyloidosis diagnosis, as documented in the medical record |
| Low Voltage on ECG at Diagnosis | Baseline | Presence of low voltage QRS complexes on ECG at diagnosis |
| Conduction Abnormalities on ECG at Diagnosis | Baseline | Presence of conduction abnormalities (e.g., AV block, bundle branch block) on ECG at diagnosis |
| Atrial Fibrillation on ECG at Diagnosis | Baseline | Presence of atrial fibrillation on ECG at diagnosis |
| Pharmacological Treatment for Heart Failure at Diagnosis | Baseline | Presence of pharmacological treatment for heart failure at the time of systemic amyloidosis diagnosis. Heart failure therapy includes guideline-directed medical treatments such as diuretics, beta-blockers, ACE inhibitors, or ARBs, as documented in the medical record |
| ATTR-specific Disease-modifying Therapy at Registry Entry | Baseline | Presence of transthyretin (ATTR) amyloidosis-specific disease-modifying therapy at the time of registry enrollment (data entry). ATTR-specific therapy includes transthyretin-targeted treatments such as tafamidis or other approved disease-modifying agents, as documented in the medical record |
| Genetic Testing Performed During Diagnostic Workup | Baseline | Whether genetic testing (gene sequencing) was performed during the diagnostic evaluation of systemic amyloidosis, as documented in the medical record |
| Genetic Testing Result and Identified Mutation | Baseline | Result of genetic testing performed during diagnostic workup for systemic amyloidosis. Results are categorized as negative or positive for pathogenic variants. If positive, the specific gene mutation identified (e.g., TTR variants or other relevant pathogenic mutations) is recorded as documented in the medical record |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Mortality | 3 years | Annual mortality rate |
| Hospitalization | 3 years | Annual hospitalization rate |
Countries
Hungary
Contacts
CONTACTZoltan Pozsonyi, MD, PhD
CONTACTDaniella Nagy, MD
PRINCIPAL_INVESTIGATORZoltan Pozsonyi, MD, PhD
Department of Internal Medicine and Hematology, Semmelweis University
Outcome results
None listed