Hungarian National Systemic Amyloidosis Registry

NCT07689331 | Recruiting

• 1 other identifier: BM/11338-1/2025
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 12

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.

Conditions

Systemic Amyloidosis; ATTR Amyloidosis; AL Amyloidosis; Amyloid Cardiomyopathy

Keywords

ATTR; AL; systemic amyloidosis

Outcome Measures

Primary Outcomes (31)

• Sex of Participants at Diagnosis

  Sex (male or female as recorded in the medical record) of participants at the time of systemic amyloidosis diagnosis

  Baseline

• Age at Diagnosis

  Age of participants in years at the time of systemic amyloidosis diagnosis

  Baseline

• Place of Residence at Diagnosis (Postal Code Level)

  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

  Baseline

• Treating Institution at Diagnosis

  Healthcare institution where the participant received the initial diagnosis of systemic amyloidosis

  Baseline

• Systemic Amyloidosis Subtype at Diagnosis

  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

  Baseline

• Date of Symptom Onset

  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

  Baseline

• Date of Systemic Amyloidosis Diagnosis

  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

  Baseline

• Time from Symptom Onset to Systemic Amyloidosis Diagnosis (Days)

  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

  Baseline

• Category of Presenting Symptom Leading to Systemic Amyloidosis Diagnosis

  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

  Baseline

• Organ Involvement at Diagnosis

  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

  Baseline

• Biopsy Performed During Diagnostic Workup

  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

  Baseline

• Bone Scintigraphy Performed During Diagnostic Workup

  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

  Baseline

• Cardiac MRI Performed During Diagnostic Workup

  Whether a cardiac magnetic resonance imaging (MRI) study was performed during the diagnostic evaluation of systemic amyloidosis, as documented in the medical record

  Baseline

• Carpal Tunnel Syndrome Present at Diagnosis

  Whether carpal tunnel syndrome was present or previously diagnosed at the time of systemic amyloidosis diagnosis, as documented in the medical record

  Baseline

• Polyneuropathy Disability (PND) Score at Diagnosis

  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

  Baseline

• NT-proBNP Level at Diagnosis

  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)

  Baseline

• High-sensitivity Troponin T Level at Diagnosis

  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)

  Baseline

• Estimated Glomerular Filtration Rate (eGFR) at Diagnosis

  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

  Baseline

• Serum Kappa Free Light Chain Level at Diagnosis

  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

  Baseline

• Serum Lambda Free Light Chain Level at Diagnosis

  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

  Baseline

• Serum Immunofixation Result at Diagnosis

  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

  Baseline

• Interventricular Septum Thickness by Echocardiography at Diagnosis

  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

  Baseline

• Aortic Valve Stenosis Present at Diagnosis

  Presence of clinically diagnosed aortic valve stenosis at the time of systemic amyloidosis diagnosis, based on echocardiographic findings and/or medical record documentation

  Baseline

• New York Heart Association (NYHA) Functional Class at Diagnosis

  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

  Baseline

• Low Voltage on ECG at Diagnosis

  Presence of low voltage QRS complexes on ECG at diagnosis

  Baseline

• Conduction Abnormalities on ECG at Diagnosis

  Presence of conduction abnormalities (e.g., AV block, bundle branch block) on ECG at diagnosis

  Baseline

• Atrial Fibrillation on ECG at Diagnosis

  Presence of atrial fibrillation on ECG at diagnosis

  Baseline

• Pharmacological Treatment for Heart Failure at Diagnosis

  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

  Baseline

• ATTR-specific Disease-modifying Therapy at Registry Entry

  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

  Baseline

• Genetic Testing Performed During Diagnostic Workup

  Whether genetic testing (gene sequencing) was performed during the diagnostic evaluation of systemic amyloidosis, as documented in the medical record

  Baseline

• Genetic Testing Result and Identified Mutation

  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

  Baseline

Secondary Outcomes (2)

• Mortality

  3 years

• Hospitalization

  3 years

Study Arms (1)

Systemic Amyloidosis Patients

Patients with systemic amyloidosis evaluated and treated at participating cardiology, nephrology, neurology and hematology departments in Hungary.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients diagnosed with systemic amyloidosis in Hungary

You may qualify if:

• 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

You may not qualify if:

• Lack of informed consent in the prospective study

Sponsors & Collaborators

• Semmelweis University: lead

Study Sites (12)

Balatonfüredi Állami Szívkórház

Balatonfüred, 8230, Hungary

RECRUITING

Budapesti Szent Margit Kórház

Budapest, 1032, Hungary

RECRUITING

Budapesti Péterfy Sándor utcai Kórház - Rendelőintézet

Budapest, 1076, Hungary

RECRUITING

Department of Internal Medicine and Hematology, Semmelweis University

Budapest, 1088, Hungary

RECRUITING

Gottsegen National Cardiovascular Center

Budapest, 1096, Hungary

RECRUITING

Dél-pesti Centrumkórház - Országos Hematológiai és Infektológiai Intézet

Budapest, 1097, Hungary

RECRUITING

Dél-budai Centrumkórház Szent Imre Egyetemi Oktatókórház

Budapest, 1115, Hungary

RECRUITING

Észak-Pesti Centrumkórház - Honvédkórház

Budapest, 1134, Hungary

RECRUITING

Clinical Centre, University of Debrecen

Debrecen, 4032, Hungary

RECRUITING

Pécsi Tudományegyetem

Pécs, 7623, Hungary

RECRUITING

Szegedi Tudományegyetem

Szeged, 6725, Hungary

RECRUITING

Fejér Vármegyei Szent György Egyetemi Oktató Kórház

Székesfehérvár, 8000, Hungary

RECRUITING

Related Publications (5)

• Jaiswal V, Agrawal V, Khulbe Y, Hanif M, Huang H, Hameed M, Shrestha AB, Perone F, Parikh C, Gomez SI, Paudel K, Zacks J, Grubb KJ, De Rosa S, Gimelli A. Cardiac amyloidosis and aortic stenosis: a state-of-the-art review. Eur Heart J Open. 2023 Oct 12;3(6):oead106. doi: 10.1093/ehjopen/oead106. eCollection 2023 Nov.

  PMID: 37941729 BACKGROUND

• Devesa A, Camblor Blasco A, Pello Lazaro AM, Askari E, Lapena G, Gomez Talavera S, Taibo Urquia M, Rodriguez Olleros C, Tunon J, Ibanez B, Acena A. Prevalence of transthyretin amyloidosis in patients with heart failure and no left ventricular hypertrophy. ESC Heart Fail. 2021 Aug;8(4):2856-2865. doi: 10.1002/ehf2.13360. Epub 2021 May 8.

  PMID: 33963812 BACKGROUND

• Pozsonyi Z, Pesko G, Takacs H, Csuka D, Nagy V, Szilagyi A, Hategan L, Muk B, Csanyi B, Nyolczas N, Dezsi L, Molnar JM, Csillik A, Revesz K, Ivanyi B, Szabo F, Birtalan K, Masszi T, Aranyi Z, Sepp R. Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features. Genes (Basel). 2021 Jul 28;12(8):1152. doi: 10.3390/genes12081152.

  PMID: 34440326 BACKGROUND

• Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016 Jun 25;387(10038):2641-2654. doi: 10.1016/S0140-6736(15)01274-X. Epub 2015 Dec 21.

  PMID: 26719234 BACKGROUND

• Ravichandran S, Lachmann HJ, Wechalekar AD. Epidemiologic and Survival Trends in Amyloidosis, 1987-2019. N Engl J Med. 2020 Apr 16;382(16):1567-1568. doi: 10.1056/NEJMc1917321. No abstract available.

  PMID: 32294353 BACKGROUND

MeSH Terms

Conditions

Immunoglobulin Light-chain Amyloidosis; Amyloid Neuropathies, Familial

Condition Hierarchy (Ancestors)

Neoplasms, Plasma Cell; Neoplasms by Histologic Type; Neoplasms; Amyloidosis; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases; Lymphoproliferative Disorders; Immunoproliferative Disorders; Immune System Diseases; Paraproteinemias; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Amyloid Neuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amyloidosis, Familial; Metabolism, Inborn Errors

Study Officials

• Zoltan Pozsonyi, MD, PhD

  Department of Internal Medicine and Hematology, Semmelweis University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Zoltan Pozsonyi, MD, PhD

CONTACT

+36208250944; pozsonyi.zoltan@semmelweis.hu

Daniella Nagy, MD

CONTACT

+36206701243; nagydana27@gmail.com

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Professor, MD, PhD

Study Record Dates

• First Submitted: May 29, 2026
• First Posted: July 8, 2026
• Study Start: March 8, 2026
• Primary Completion (Estimated): May 1, 2028
• Study Completion (Estimated): May 1, 2028
• Last Updated: July 8, 2026

Record last verified: 2026-05

Locations

HU (12)