An Outcome Survey to Better Understand and Characterize the Natural History of Transthyretin-Associated Amyloidoses by Studying a Large and Diverse Patient Population

Overview

About this study

The purpose of this long-term survey is to better understand and characterize the natural history of  transthyretin-associated amyloidoses (including ATTR-polyneuropathy, ATTR-cardiomyopathy, and wild-type ATTR-CM) by studying a large and diverse patient population. Survey data may be used to develop new treatment guidelines and recommendations, and to inform and educate clinicians about the management of this disease.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria

Must meet all criteria to qualify for inclusion in study:

  • Evidence of a personally signed and dated informed consent document indicating that the patient (or a legally acceptable representative) has been informed of all pertinent aspects of the study.
  • Males and females.
  • At least 18 years of age.
  • Confirmed genotyped TTR mutation with or without a diagnosis of ATTR, or wild-type TTR amyloidosis.
  • Confirmation of wild-type TTR amyloidosis will be determined by genotyped confirmation that patient does not possess a known mutation in TTR gene (i.e., is a carrier of wild-type allele only) via genetic testing and one of the following sets of criteria:
    • Evidence of cardiac involvement by echocardiogram as defined by mean left ventricle wall thickness of > 12 mm, and presence of amyloid in cardiac biopsy tissue confirmed as TTR amyloid by mass spectrometry or immunohistochemistry;
    • Evidence of cardiac involvement by echocardiogram as defined by mean left ventricle wall thickness of > 12 mm, and presence of amyloid in non-cardiac tissue confirmed as TTR amyloid by mass spectrometry or immunohistochemistry;
    • Evidence of cardiac involvement by echocardiogram as defined by mean left ventricle wall thickness of > 12 mm, no evidence of primary (light chain) amyloidosis, and presence of amyloid in cardiac tissue indirectly confirmed by scintigraphy with a "bone seeking tracer"; e.g., 99mTC-DPD [99mTC-3,3-diphosphono-1,2-propano-dicarboxylic acid], 99mTC- PYP [Pyrophosphate], and 99mTC-HMDP [hydroxymethylene diphosphonate] with Perugini grade greater than or equal to 2.

Exclusion Criteria

  • Has primary or secondary amyloidosis.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Angela Dispenzieri, M.D.

Open for enrollment

Contact information:

Ann Engebretson L.P.N.

(507) 293-1965

Engebretson.Ann@mayo.edu

More information

Publications

Publications are currently not available

Study Results Summary

Not yet available

Supplemental Study Information

Not yet available

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CLS-20209015

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