Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy - Full Text View

Purpose

Cardiac amyloidosis are related to the accumulation of fibrillar proteins in the extracellular leading to disruption of the cardiac tissue architecture. Amyloidosis in transthyretin (TTR) are the most common hereditary amyloidosis but remain poorly studied at heart. This is serious and deadly. The prevalence of TTR amyloidosis is probably underestimated in hypertrophic cardiomyopathy (HCM) often of unknown etiology because of the lack of systematic implementation of myocardial biopsy because of their side effects.

Condition
Cardiac Amyloidosis Amyloidosis in Transthyretin (TTR) Hypertrophic Cardiomyopathy (HCM)


Study Type:	Observational
Study Design:	Observational Model: Cohort Time Perspective: Prospective
Official Title:	Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy

Resource links provided by NLM:

Genetics Home Reference related topics: familial hypertrophic cardiomyopathy supravalvular aortic stenosis transthyretin amyloidosis

MedlinePlus related topics: Amyloidosis Cardiomyopathy

Genetic and Rare Diseases Information Center resources: Familial Transthyretin Amyloidosis Amyloid Neuropathy Aortic Valve Stenosis

U.S. FDA Resources

Further study details as provided by French Cardiology Society:

Primary Outcome Measures:

Number of ATTRm mutations [ Time Frame: 1 day ] [ Designated as safety issue: No ]
Number of ATTRm mutations detected in a large population of patients with HCM.

Secondary Outcome Measures:

Genotype and clinical factors [ Time Frame: 1 day ] [ Designated as safety issue: No ]
Identify clinical factors associated with biological and echocardiographic different HCM genotypes.

Biospecimen Retention: Samples With DNA

10 mL of whole blood in EDTA tube


Estimated Enrollment:	260
Study Start Date:	June 2012
Estimated Study Completion Date:	June 2017
Estimated Primary Completion Date:	June 2016 (Final data collection date for primary outcome measure)

Groups/Cohorts
Hypertrophic Cardiomyopathy In the population of Hypertrophic Cardiomyopathy patients, patients suffering from a cardiac amyloidosis

Detailed Description:

A systematic screening of TTR mutations within the MHC would diagnose cardiac amyloidosis in TTR and improve the care of patients and their families.

The detection of this disease is important because this disease is fatal and a new treatment to prevent the accumulation of TTR is now available (Tafamidis). This drug has proved effective in stabilizing neurological damage.

Depending on the number of patient with cardiac amyloidosis in TTR detected, the prospect will begin a clinical trial to test the effectiveness of a new treatment to prevent the increase in mass of the left ventricle wall objectified resonance nuclear Magnetic.

Eligibility


Ages Eligible for Study:	18 Years and older (Adult, Senior)
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No
Sampling Method:	Non-Probability Sample

Study Population

The study population is that of patients with hypertrophic cardiomyopathy in France whose origin has not yet been determined.

Criteria

Inclusion Criteria:

Patients with cardiomyopathy defined by an ultrasound thickness of the left ventricle >= 13 mm if familial form or >= 15 mm if sporadic form.
Patients with a signed consent authorizing the specific blood test for genetic sequencing to look for abnormal TTR gene

Exclusion Criteria:

Patients with a diagnosis of cardiomyopathy already determined or related already diagnosed.
Significant aortic stenosis (≤ 1 cm ²)

Contacts and Locations

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01623245

Locations


France
Henri Mondor Hospital
Creteil, France, 94000

Sponsors and Collaborators

Thibaud Damy

Investigators


Principal Investigator:	Thibaud DAMY	Assistance Publique - Hôpitaux de Paris

More Information

Publications:

Christoph DC, Boese D, Johnson KT, Schlosser TW, Hunold P, Baba HA, Erbel R, Philipp S. Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy. Circ Heart Fail. 2009 Sep;2(5):512-5. doi: 10.1161/CIRCHEARTFAILURE.109.853697.

Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003 Aug 7;349(6):583-96. Review.

Mörner S, Hellman U, Suhr OB, Kazzam E, Waldenström A. Amyloid heart disease mimicking hypertrophic cardiomyopathy. J Intern Med. 2005 Sep;258(3):225-30.

Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, Buxbaum JN. Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med. 1997 Feb 13;336(7):466-73.

Planté-Bordeneuve V, Ferreira A, Lalu T, Zaros C, Lacroix C, Adams D, Said G. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology. 2007 Aug 14;69(7):693-8.

Planté-Bordeneuve V. [The diagnosis and management of familial amyloid polyneuropathy]. Rev Neurol (Paris). 2006 Nov;162(11):1138-46. Review. French.

Rapezzi C, Merlini G, Quarta CC, Riva L, Longhi S, Leone O, Salvi F, Ciliberti P, Pastorelli F, Biagini E, Coccolo F, Cooke RM, Bacchi-Reggiani L, Sangiorgi D, Ferlini A, Cavo M, Zamagni E, Fonte ML, Palladini G, Salinaro F, Musca F, Obici L, Branzi A, Perlini S. Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types. Circulation. 2009 Sep 29;120(13):1203-12. doi: 10.1161/CIRCULATIONAHA.108.843334. Epub 2009 Sep 14.

Said G, Planté-Bordeneuve V. Familial amyloid polyneuropathy: a clinico-pathologic study. J Neurol Sci. 2009 Sep 15;284(1-2):149-54. doi: 10.1016/j.jns.2009.05.001. Epub 2009 May 24.

Saraiva MJ. Sporadic cases of hereditary systemic amyloidosis. N Engl J Med. 2002 Jun 6;346(23):1818-9.


Responsible Party:	Thibaud Damy, Assistant Professor, French Society of Cardiology
ClinicalTrials.gov Identifier:	NCT01623245 History of Changes
Other Study ID Numbers:	11714
Study First Received:	June 13, 2012
Last Updated:	July 8, 2014
Health Authority:	France : National Commission on Informatics and Freedoms

Additional relevant MeSH terms:


Amyloidosis Amyloid Neuropathies, Familial Amyloid Neuropathies Amyloidosis, Familial Cardiomyopathies Hypertrophy Cardiomyopathy, Hypertrophic Heart Diseases Cardiovascular Diseases Proteostasis Deficiencies Metabolic Diseases	Pathological Conditions, Anatomical Aortic Stenosis, Subvalvular Aortic Valve Stenosis Heart Valve Diseases Heredodegenerative Disorders, Nervous System Neurodegenerative Diseases Nervous System Diseases Peripheral Nervous System Diseases Neuromuscular Diseases Genetic Diseases, Inborn Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on September 28, 2016

Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy (Amylo)