Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy

NCT01623245 | Completed DMC

• 1 other identifier: 11714
• Study Type: observational
• Target: 294
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• Number of ATTRm mutations

  Number of ATTRm mutations detected in a large population of patients with HCM.

  1 day

Secondary Outcomes (1)

• Genotype and clinical factors

  1 day

Study Arms (1)

Hypertrophic Cardiomyopathy

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

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

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

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Thibaud Damy: lead

Study Sites (1)

Henri Mondor Hospital

Créteil, 94000, France

Location

Related Publications (9)

• 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.

  PMID: 19808383 BACKGROUND

• 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.

  PMID: 12904524 BACKGROUND

• 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.

  PMID: 16115295 BACKGROUND

• 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.

  PMID: 9017939 BACKGROUND

• 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.

  PMID: 17698792 BACKGROUND

• 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.

  PMID: 17086153 BACKGROUND

• 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.

  PMID: 19752327 BACKGROUND

• 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.

  PMID: 19467548 BACKGROUND

• 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.

  PMID: 12050344 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

10 mL of whole blood in EDTA tube

MeSH Terms

Conditions

Amyloid Neuropathies, Familial; Cardiomyopathy, Hypertrophic

Condition Hierarchy (Ancestors)

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; Metabolic Diseases; Nutritional and Metabolic Diseases; Amyloidosis; Proteostasis Deficiencies; Cardiomyopathies; Heart Diseases; Cardiovascular Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases

Study Officials

• Thibaud DAMY

  Assistance Publique - Hôpitaux de Paris

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Assistant Professor

Study Record Dates

• First Submitted: June 13, 2012
• First Posted: June 19, 2012
• Study Start: June 1, 2012
• Primary Completion: December 1, 2014
• Study Completion: December 1, 2014
• Last Updated: August 14, 2019

Record last verified: 2019-08

Locations

FR (1)