NCT03237494

Brief Summary

National, multicenter, epidemiological, longitudinal protocol to investigate the hATTR prevalence in an at-risk population for Hereditary Transthyretin Amyloidosis (hATTR) and subjects diagnosed with hATTR, to monitor the clinical status in TTR positive subjects and to establish hATTR biomarker/s

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
5,028

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Jul 2017

Longer than P75 for all trials

Geographic Reach
3 countries

84 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 20, 2017

Completed
11 days until next milestone

First Submitted

Initial submission to the registry

July 31, 2017

Completed
2 days until next milestone

First Posted

Study publicly available on registry

August 2, 2017

Completed
7.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 16, 2025

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 16, 2025

Completed
Last Updated

June 29, 2025

Status Verified

September 1, 2024

Enrollment Period

7.8 years

First QC Date

July 31, 2017

Last Update Submit

June 25, 2025

Conditions

Keywords

Peripheral Nervous System DiseasesTransthyretin AmyloidosisTransthyretin-related familial amyloid polyneuropathyTransthyretin-related familial amyloid cardiomyopathy

Outcome Measures

Primary Outcomes (2)

  • Analysis of prevalance of hATTR mutations among a cohort of participants at risk for hATTR.

    DBS-based genetic analyses of TTR gene will be perfomed via the combination of the Next-Generation Sequencing (the mutation will be confirmed by Sanger sequencing) and the Multiplex ligation-dependent probe amplification.

    4 years

  • To monitor clinical status in TTR positive subjects.

    8 Follow up visits within 24 months

    4 years

Secondary Outcomes (1)

  • Establishment of biomarker/s in TTR positive cohort.

    4 years

Study Arms (1)

Participants at risk for hATTR and participants diagnosed with hATTR

Participants 18 years of age or older

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Participants at risk for Hereditary Transthyretin Amyloidosis (hATTR) and participants diagnosed with hATTR

You may qualify if:

  • Informed consent is obtained from the participant
  • The participant is 18 years of age or older
  • The participant has no diagnosis of alcoholism according to international guidelines
  • The participant has not undergone chemotherapy for any carcinoma
  • AND
  • The participant is at risk for hATTR due to two or more the factors listed below:
  • cardiomyopathy or polyneuropathy with no obvious etiology atypical Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) or Motor Neuron Disease (MND)
  • autonomic dysfunction
  • hypertrophic cardiomyopathy or heart failure with preserved ejection fraction Left Ventricular Hypertrophy (LVH)
  • bilateral carpal tunnel syndrome
  • spinal stenosis or spinal radiculopathy
  • gait disorders
  • ocular changes involving vitreous opacities
  • unexplained weight loss \>5kg
  • renal abnormalities
  • +4 more criteria

You may not qualify if:

  • Informed consent is not obtained from the participant
  • The participant is younger than 18 years of age
  • The participant has a diagnosis of alcoholism according to International guidelines
  • The participant has undergone chemotherapy for any carcinoma
  • The participant is not at risk for hATTR

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (84)

Kepler Universitätsklinikum, Klinik für Interne 1 - Kardiologie und internistische Intensivmedizin; Cardiology

Linz, 4021, Austria

Location

Kepler Universitätsklinikum, Neuromed Campus; Neurology

Linz, 4021, Austria

Location

Universitätsklinikum Aachen, Neurology

Aachen, 52074, Germany

Location

Klinikum Westmünsterland GmbH, I. Medizinische Klinik und Interventionelle Kardiologie

Ahaus, 48683, Germany

Location

Kreiskrankenhaus Altenburg, Neurology

Altenburg, 04600, Germany

Location

Sächsisches Krankenhaus Arnsdorf, Akademisches Lehrkrankenhaus der TU Dresden, Neurology

Arnsdorf, 01477, Germany

Location

Gemeinschaftspraxis Neurologie & Psychiatrie im Stadtpalais

Aschaffenburg, 63739, Germany

Location

Kerckhoff-Klinik GmbH, Klinik für Kardiologie, Cardiology

Bad Nauheim, 61231, Germany

Location

RHÖN-KLINIKUM Campus Bad Neustadt, Neurology

Bad Neustadt an der Saale, 97616, Germany

Location

Charité - Universitätsmedizin Berlin Funktionsdiagnostik und Stationen, Cardiology

Berlin, 10117, Germany

Location

Charité Universitätsmedizin Berlin, Klinik für Neurologie, Neurology

Berlin, 10117, Germany

Location

Sana Klinikum Lichtenberg

Berlin, 101365, Germany

Location

Charité Universitätsmedizin Berlin - Campus Virchow Klinikum (CVK), Cardiology

Berlin, 13353, Germany

Location

Klinikum Bielefeld, Klinik für Kardiologie und internistische Intensivmedizin, Cardiology

Bielefeld, 33604, Germany

Location

Evangelisches Klinikum Bethel gGmbH v. Bodelschwinghsche Stiftungen Bethel, Neurology

Bielefeld, 33617, Germany

Location

Klinikum Bremen Mitte gGmbH, Neurologische Klinik, Neurology

Bremen, 28177, Germany

Location

Gesundheit Nord gGmbH - Klinikverband Bremen

Bremen, 28211, Germany

Location

Krankenhaus Buchholz und Winsen, gemeinnützige GmbH, Cardiology

Buchholz in der Nordheide, 21244, Germany

Location

Krankenhaus Buchholz und Winsen, gemeinnützige GmbH, Neurology

Buchholz in der Nordheide, 21244, Germany

Location

Allgemeines Krankenhaus Celle, Neurology

Celle, 29223, Germany

Location

Carl-Thiem-Klinikum Cottbus gGmbH

Cottbus, 03048, Germany

Location

St. Vincenz Krankenhaus Datteln, Medizinische Klinik II, Cardiology

Datteln, 45711, Germany

Location

Klinikum Dortmund gGmbH,Stroke-Unit und Neurologische Intensivstation, Neurology

Dortmund, 44137, Germany

Location

LVR Klinikum Düsseldorf, Neurology

Düsseldorf, 40629, Germany

Location

Martin Gropius Krankenhaus, Klinik für Neurologie, Neurology

Eberswalde, 16225, Germany

Location

Universitätsklinikum Erlangen, Cardiology

Erlangen, 91045, Germany

Location

Alfried Krupp Krankenhaus Rüttenscheid, Neurology

Essen, 45131, Germany

Location

Contilia Herz- und Gefäßzentrum, Elisabeth-Krankenhaus Essen, Cardiology

Essen, 45138, Germany

Location

Kliniken an der Paar Friedberg Krankenhaus, Cardiology

Friedberg, 86316, Germany

Location

Herz-Thorax-Zentrum Fulda, Klinikum Fulda gAG, Universitätsmedizin Marburg - Campus Fulda, Cardiology

Fulda, 36043, Germany

Location

University of Giessen-Marburg, Neurology

Giessen, D-35385, Germany

Location

Universitätsmedizin Göttingen - Herzzentrum; Cardiology

Göttingen, 37075, Germany

Location

Universitätsklinikum Greifswald der Ernst-Moritz-Arndt-Universität, Neurology

Greifswald, 17489, Germany

Location

kbo-Isar-Amper-Klinikum München-Ost, Klinik für Neurologie, Neurology

Haar, 85540, Germany

Location

Martin-Luther-Universität, Universitätsklinik und Poliklinik für Neurologie, Neurology

Halle, 06120, Germany

Location

Universitätsklinik und Poliklinik für Innere Medizin III, Cardiology

Halle, 06120, Germany

Location

Asklepios Klinik St. Georg, Klinik für Neurologie

Hamburg, 20099, Germany

Location

Universitäres Herzzentrum Hamburg, Klinik für Allgemeine und Interventionelle Kardiologie, Universitätsklinikum Hamburg-Eppendorf, Cardiology

Hamburg, 20246, Germany

Location

Neurologie Neuer Wall, Fachärzte für Neurologie & Psychiatrie, Neurology

Hamburg, 20354, Germany

Location

Albertinen-Krankenhaus, Cardiology

Hamburg, 22457, Germany

Location

Asklepios Klinik Altona, Neurologische Abteilung mit überregionaler Stroke Unit, Neurophysiologie und Neurologischer Intensivmedizin

Hamburg, 22763, Germany

Location

Medizinische Hochschule Hannover, Klinik für Neurologie; Neurology

Hanover, 30625, Germany

Location

Universitätsklinikum Heidelberg, Klinik für Kardiologie, Angiologie und Pneumologie, Cardiology

Heidelberg, 69120, Germany

Location

Lausitzer Seenland Klinikum GmbH, Klinik für Neurologie, Neurology

Hoyerswerda, 02977, Germany

Location

Universitätsklinikum Jena, Neurology

Jena, 07740, Germany

Location

Universitätsklinikum Jena Klinik für Innere Medizin I

Jena, 07747, Germany

Location

DRK-Kliniken Nordhessen gGmbH , Klinik für Neurologie und Klinische Neurophysiologie, Neurology

Kassel, 34121, Germany

Location

Alexianer Krefeld GmbH, Krankenhaus Maria Hilf, Neurology

Krefeld, 47805, Germany

Location

Universitaetsklinikum Leipzig, Neurology

Leipzig, 04103, Germany

Location

Klinikum St. Georg gGmbH

Leipzig, 04129, Germany

Location

Asklepios Fachklinikum Lübben, Neurology

Lubin, 15907, Germany

Location

Universitäres Herzzentrum Lübeck, Medizinische Klinik II

Lübeck, 23538, Germany

Location

Sana Kliniken Lübeck GmbH, Medizinische Klinik II

Lübeck, 23560, Germany

Location

Universitätsklinikum Schleswig-Holstein

Lübeck, 23562, Germany

Location

DRK Schmerz-Zentrum, Neurology

Mainz, 55131, Germany

Location

Johannes Gutenberg-Universität Mainz, Klinik und Poliklinik für Neurologie; Neurology

Mainz, Germany

Location

Diakonissen Speyer-Mannheim, Diakonissenkrankenhaus Mannheim, Neurology

Mannheim, 68163, Germany

Location

Neckar-Odenwald Kliniken gGmbH, Kreiskrankenhaus Mosbach, Kardiologie der Klinik für Innere Medizin

Mosbach, 74821, Germany

Location

Ökumenisches Hainich Klinikum gGmbH, Neurology

Mühlhausen, 99974, Germany

Location

Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Neurology

München, 80336, Germany

Location

Kardiologie München Nord, Cardiology

München, 80939, Germany

Location

Ludwig-Maximilians-Universität München, Klinikum Großhadern, Neurologische Klinik und Poliklinik & Deutsches Schwindel- und Gleichgewichtszentrum DSGZ, Neurology

München, 81377, Germany

Location

Klinik und Poliklinik für Neurologie, Klinikum rechts der Isar, Technische Universität München

München, 81675, Germany

Location

Praxis für Neurologie, Neurology

München, 81825, Germany

Location

Ruppiner Kliniken GmbH,Hochschulklinikum der MHB, Neurology

Neuruppin, 16816, Germany

Location

UKRB Universitätsklinikum Ruppin Brandenburg

Neuruppin, 16816, Germany

Location

Kreiskrankenhaus Prignitz gGmbH, Neurology

Perleberg, 19348, Germany

Location

Krankenhaus Barmherzige Brüder Regensburg, Klinik für Neurologie, Neurology

Regensburg, 93049, Germany

Location

Universitätsklinikum Regensburg, Cardiology

Regensburg, 93053, Germany

Location

Nordwest-Krankenhaus Sanderbusch gGmbH, Neurologische Klinik, Neurology

Sande, 26452, Germany

Location

Sächsisches Krankenhaus Altscherbitz, Neurology

Schkeuditz, 04435, Germany

Location

Jung-Stilling Klinikum Siegen, Diakonie Westfalen Süd Neuro, Neurogeriatrie, Neurology

Siegen, 57074, Germany

Location

Elbe Klinikum Stade

Stade, 21682, Germany

Location

Asklepios Fachklinikum Teupitz, Neurology

Teupitz, 15755, Germany

Location

Universitätsklinikum Tübingen, Zentrum für Neurologie

Tübingen, 72076, Germany

Location

NeuroPoint, Neurology

Ulm, 89073, Germany

Location

University of Ulm, Neurology

Ulm, 89081, Germany

Location

Sophien-u.Hufeland-Klinikum, Klinik für Neurologie und Klinische Neurophysiologie, Neurology

Weimar, 99425, Germany

Location

Fachkrankenhaus Hubertusburg gGmbH, Neurologische Klinik, Neurology

Wermsdorf, 04779, Germany

Location

Sana HANSE Klinikum Wismar, Klinik für Neurologie, Neurology

Wismar, 23966, Germany

Location

Praxis für Neurologie, Neurology

Wolfratshausen, v, Germany

Location

Luzerner Kantonspital, Cardiology

Lucerne, 6000, Switzerland

Location

Solothurner Spitäler AG, Bürgerspital Solothurn, Cardiology

Olten, 4500, Switzerland

Location

Praxisgemeinschaft für Kardiologie, Innere Medizin und Psychosomatische Medizin, Cardiology

Zug, 6300, Switzerland

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)

MeSH Terms

Conditions

Amyloidosis, Hereditary, Transthyretin-RelatedAmyloid Neuropathies, FamilialPolyneuropathiesCardiomyopathiesPeripheral Nervous System Diseases

Condition Hierarchy (Ancestors)

Heredodegenerative Disorders, Nervous SystemNeurodegenerative DiseasesNervous System DiseasesAmyloid NeuropathiesNeuromuscular DiseasesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesAmyloidosis, FamilialMetabolism, Inborn ErrorsMetabolic DiseasesNutritional and Metabolic DiseasesAmyloidosisProteostasis DeficienciesHeart DiseasesCardiovascular Diseases

Study Officials

  • Peter Bauer, Prof.

    Centogene GmbH

    STUDY CHAIR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 31, 2017

First Posted

August 2, 2017

Study Start

July 20, 2017

Primary Completion

May 16, 2025

Study Completion

May 16, 2025

Last Updated

June 29, 2025

Record last verified: 2024-09

Locations