Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy

NCT ID: NCT01623245

Last Updated: 2019-08-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

294 participants

Study Classification

OBSERVATIONAL

Study Start Date

2012-06-30

Study Completion Date

2014-12-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Hypertrophic Cardiomyopathy

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

No interventions assigned to this group

Eligibility Criteria

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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)
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Thibaud Damy

OTHER

Sponsor Role lead

Responsible Party

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Thibaud Damy

Assistant Professor

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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Thibaud DAMY

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Locations

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Henri Mondor Hospital

Créteil, , France

Site Status

Countries

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France

References

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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. No abstract available.

Reference Type BACKGROUND
PMID: 19808383 (View on PubMed)

Merlini G, Bellotti V. Molecular mechanisms of amyloidosis. N Engl J Med. 2003 Aug 7;349(6):583-96. doi: 10.1056/NEJMra023144. No abstract available.

Reference Type BACKGROUND
PMID: 12904524 (View on PubMed)

Morner S, Hellman U, Suhr OB, Kazzam E, Waldenstrom A. Amyloid heart disease mimicking hypertrophic cardiomyopathy. J Intern Med. 2005 Sep;258(3):225-30. doi: 10.1111/j.1365-2796.2005.01522.x.

Reference Type BACKGROUND
PMID: 16115295 (View on PubMed)

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. doi: 10.1056/NEJM199702133360703.

Reference Type BACKGROUND
PMID: 9017939 (View on PubMed)

Plante-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. doi: 10.1212/01.wnl.0000267338.45673.f4.

Reference Type BACKGROUND
PMID: 17698792 (View on PubMed)

Plante-Bordeneuve V. [The diagnosis and management of familial amyloid polyneuropathy]. Rev Neurol (Paris). 2006 Nov;162(11):1138-46. doi: 10.1016/s0035-3787(06)75130-x. French.

Reference Type BACKGROUND
PMID: 17086153 (View on PubMed)

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.

Reference Type BACKGROUND
PMID: 19752327 (View on PubMed)

Said G, Plante-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.

Reference Type BACKGROUND
PMID: 19467548 (View on PubMed)

Saraiva MJ. Sporadic cases of hereditary systemic amyloidosis. N Engl J Med. 2002 Jun 6;346(23):1818-9. doi: 10.1056/NEJM200206063462312. No abstract available.

Reference Type BACKGROUND
PMID: 12050344 (View on PubMed)

Other Identifiers

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11714

Identifier Type: -

Identifier Source: org_study_id

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