Cardiac AmyloidosisAmyloNCT01623245

Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy

An observational study of Cardiac Amyloidosis and Amyloidosis in Transthyretin (TTR), run by Thibaud Damy at 1 site in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record

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Trial summary

Who is it for?: Ages 18 years and older
Conditions the study is for: Cardiac Amyloidosis, Amyloidosis in Transthyretin (TTR), Hypertrophic Cardiomyopathy (HCM)
How many people: 294 participants
Where: 1 siteFrance
Study dates: Jun 2012to Dec 2014
Phase: Observational
Are there results?: None posted in the registry

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 18 years and older
All sexes
No healthy volunteers
Adult, Older adult

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

Who may be able to join

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

Who cannot join

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

Trial locations and contacts

1 site in 1 country.

France1 site

Henri Mondor Hospital
Créteil, 94000

Other trials in France

About this study

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.

Read the 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.

Conditions: Cardiac Amyloidosis, Amyloidosis in Transthyretin (TTR), Hypertrophic Cardiomyopathy (HCM)
Medical subject headings: Amyloid Neuropathies, Familial, Cardiomyopathy, Hypertrophic

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Study groups in NCT01623245
Study group	Role	What they receive
Hypertrophic Cardiomyopathy		In the population of Hypertrophic Cardiomyopathy patients, patients suffering from a cardiac amyloidosis

What is being measured

The primary outcome is the main question the study is designed to answer.

Number of ATTRm mutations
Number of ATTRm mutations detected in a large population of patients with HCM.
Measured: 1 day

Secondary outcomes (1)

Genotype and clinical factors
Identify clinical factors associated with biological and echocardiographic different HCM genotypes.
Measured: 1 day

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

Jun 2012Dec 2014

First posted19 Jun 2012 (estimated)
Study startJun 2012
Primary completionDec 2014
Study completionDec 2014

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Publications (9)Papers the sponsor has linked to this study.
Other trials for Cardiac AmyloidosisStudies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Observational
Observational model: Cohort
Time perspective: Prospective
Enrolment: 294 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT01623245
Sponsor's protocol ID: 11714
Acronym: Amylo
Status last verified: Aug 2019
First submitted: 13 Jun 2012
Last updated: 14 Aug 2019
Results posted: No
Data monitoring committee: Yes

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. No abstract available.
PubMed 19808383
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.
PubMed 12904524
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.
PubMed 16115295
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.
PubMed 9017939
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.
PubMed 17698792
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.
PubMed 17086153
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.
PubMed 19752327
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.
PubMed 19467548
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.
PubMed 12050344

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

Active, not recruitingObservational study
A Retrospective Observational Study of Epidemiology and Outcomes in Transthyretin Amyloid Cardiomyopathy in Germany
ATTR-CM (Transthyretin Amyloid Cardiomyopathy)
Active, not recruitingPhase 3
EPIC-ATTR: A Study to Evaluate the Effect of Eplontersen on the Transthyretin Reduction and Long-term Safety in Chinese Subjects With Transthyretin Amyloid Cardiomyopathy
Transthyretin Amyloid Cardiomyopathy
RecruitingObservational study
Essen Amyloidosis Registry
Amyloidosis; Systemic, Amyloidosis Cardiac
Active, not recruitingPhase 3
A Phase 3 Study of NTLA-2001 in ATTRv-PN
Neuromuscular Disease, Neuromuscular Diseases (NMD)
RecruitingPhase 3
MAGNITUDE: A Phase 3 Study of NTLA-2001 in Participants With Transthyretin Amyloidosis With Cardiomyopathy (ATTR-CM)
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy

All Cardiac Amyloidosis trials

Study at a glance

From the registry record, last updated by the sponsor on 14 Aug 2019. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Prevalence of Transthyretin Amyloidosis in Hypertrophic Cardiomyopathy
ClinicalTrials.gov ID: NCT01623245
Acronym / sponsor ID: Amylo / 11714
Conditions: Cardiac Amyloidosis, Amyloidosis in Transthyretin (TTR), Hypertrophic Cardiomyopathy (HCM)
Study type: Observational
Recruitment status: Completed
Enrolment: 294 participants (actual)
Lead sponsor: Thibaud DamyUniversity, hospital or other
Study start: Jun 2012 (actual)
Primary completion: Dec 2014 (actual)
Study completion: Dec 2014 (actual)
First posted: 19 Jun 2012 (estimated)
Results: Not posted in the source record

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

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.

Study design

Observational model: Cohort
Time perspective: Prospective
Number of arms: 1

Arm	Type	Receives
Hypertrophic Cardiomyopathy	–	–In the population of Hypertrophic Cardiomyopathy patients, patients suffering from a cardiac amyloidosis

Who may qualify

Ages: 18 years and older
Sex: All
Healthy volunteers: Not accepted
Age groups: Adult, Older adult
Study population: The study population is that of patients with hypertrophic cardiomyopathy in France whose origin has not yet been determined.

Key inclusion criteria (2 listed)

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

Key exclusion criteria (2 listed)

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

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Primary outcome

Number of ATTRm mutations
Time frame: 1 day
Number of ATTRm mutations detected in a large population of patients with HCM.

1 secondary outcome

Genotype and clinical factors
Time frame: 1 day

Results and safety

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 14 Aug 2019.
Background: PubMed 19808383Christoph 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.
Background: PubMed 12904524Merlini 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.
Background: PubMed 16115295Morner 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.
Background: PubMed 9017939Jacobson 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.
Background: PubMed 17698792Plante-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.
Background: PubMed 17086153Plante-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.
Background: PubMed 19752327Rapezzi 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.
Background: PubMed 19467548Said 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.
Background: PubMed 12050344Saraiva 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.

Related trials for Cardiac Amyloidosis

Active, not recruitingObservational study
A Retrospective Observational Study of Epidemiology and Outcomes in Transthyretin Amyloid Cardiomyopathy in Germany
ATTR-CM (Transthyretin Amyloid Cardiomyopathy)
Active, not recruitingPhase 3
EPIC-ATTR: A Study to Evaluate the Effect of Eplontersen on the Transthyretin Reduction and Long-term Safety in Chinese Subjects With Transthyretin Amyloid Cardiomyopathy
Transthyretin Amyloid Cardiomyopathy
RecruitingObservational study
Essen Amyloidosis Registry
Amyloidosis; Systemic, Amyloidosis Cardiac
Active, not recruitingPhase 3
A Phase 3 Study of NTLA-2001 in ATTRv-PN
Neuromuscular Disease, Neuromuscular Diseases (NMD)
RecruitingPhase 3
MAGNITUDE: A Phase 3 Study of NTLA-2001 in Participants With Transthyretin Amyloidosis With Cardiomyopathy (ATTR-CM)
Transthyretin Amyloidosis (ATTR) With Cardiomyopathy

Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Thibaud DAMY principal investigator

Assistance Publique - Hôpitaux de Paris

1 site in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

An observational study of Cardiac Amyloidosis and Amyloidosis in Transthyretin (TTR), run by Thibaud Damy at 1 site in France.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: finished, as of the sponsor's last update on 14 Aug 2019. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Number of ATTRm mutations (time frame: 1 day). It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT01623245, which also lists 9 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Aug 2019.