Familial Amyloidotic Cardiomyopathy (FAC)NCT02252653
DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
An observational study of Familial Amyloidotic Cardiomyopathy (FAC), run by Alnylam Pharmaceuticals at 58 sites in 6 countries.
Trial summary
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Familial Amyloidotic Cardiomyopathy (FAC)
- How many people
- 1,010 participants
- Where
- 58 sitesin 6 countries
- Study dates
- Jun 2014to Mar 2016
- 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: Subjects Suspected of Having Familial Amyloidotic Cardiomyopathy (FAC)
Who may be able to join
- Males or females >18 years old
- History of evidence suggestive of cardiac amyloidosis
- Subject is willing and able to comply with protocol required assessments and provide written informed consent
Who cannot join
- Known diagnosis of primary (AL) amyloidosis
- Known diagnosis of hereditary cardiomyopathy or cardiomyopathy due to aortic stenosis
- Patient is currently pregnant
Trial locations and contacts
58 sites in 6 countries.
58 sites in 6 countries
United States43 sites
Clinical Trial Site
Athens, Georgia
Clinical Trial Site
Atlanta, Georgia, 30303
Clinical Trial Site
Atlanta, Georgia, 30310
Clinical Trial Site
Aurora, Colorado
Clinical Trial Site
Bakersfield, California
Clinical Trial Site
Baltimore, Maryland
Clinical Trial Site
Boston, Massachusetts
Clinical Trial Site
Camden, New Jersey
Clinical Trial Site
Charleston, South Carolina
Clinical Trial Site
Chicago, Illinois, 60611
Clinical Trial Site
Chicago, Illinois, 60612
Clinical Trial Site
Chicago, Illinois, 60637
Clinical Trial Site
Cleveland, Ohio
Clinical Trial Site
Detroit, Michigan
Clinical Trial Site
Durham, North Carolina
Clinical Trial Site
Falls Church, Virginia
Clinical Trial Site
Fort Worth, Texas
Clinical Trial Site
Jackson, Mississippi
Clinical Trial Site
La Mesa, California
Clinical Trial Site
Little Rock, Arkansas
Clinical Trial Site
Los Angeles, California, 90073
Clinical Trial Site
Los Angeles, California, 90095
Clinical Trial Site
Macon, Georgia
Clinical Trial Site
Merrillville, Indiana
Clinical Trial Site
Norfolk, Virginia
Clinical Trial Site
Philadelphia, Pennsylvania, 19102
Clinical Trial Site
Philadelphia, Pennsylvania, 19104
Clinical Trial Site
Pittsburgh, Pennsylvania
Clinical Trial Site
Plano, Texas
Clinical Trial Site
Richmond, Virginia, 23249
Clinical Trial Site
Richmond, Virginia, 23298
Clinical Trial Site
Rochester, New York
Clinical Trial Site
Rosedale, New York
Clinical Trial Site
San Francisco, California
Clinical Trial Site
Springfield, Massachusetts
Clinical Trial Site
St Louis, Missouri
Clinical Trial Site
Tampa, Florida
Clinical Trial Site
The Bronx, New York
Clinical Trial Site
Torrance, California
Clinical Trial Site
Washington D.C., District of Columbia, 20010
Clinical Trial Site
Washington D.C., District of Columbia, 20052
Clinical Trial Site
Washington D.C., District of Columbia, 20422
Clinical Trial Site
Williamsville, New York
Belgium4 sites
Clinical Trial Site
Anderlecht
Clinical Trial Site
Brussels, 1020
Clinical Trial Site
Hasselt
Clinical Trial Site
Roeselare
Spain4 sites
Clinical Trial Site
Barcelona, 8003
Clinical Trial Site
Barcelona, 8907
Clinical Trial Site
Madrid
Clinical Trial Site
Seville
France3 sites
Clinical Trial Site
Bordeaux
Clinical Trial Site
Toulouse
Clinical Trial Site
Vandœuvre-lès-Nancy
United Kingdom3 sites
Clinical Trial Site
Cardiff
Clinical Trial Site
London, NW1 2BU
Clinical Trial Site
London, SW17 0QT
About this study
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis
- Keywords
- Cardiomyopathy, Heart Failure, FAC, Amyloid, Transthyretin (TTR)
- Medical subject headings
- Cardiomyopathies, Heart Failure, Alzheimer Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Familial Amyloidotic Cardiomyopathy (FAC) | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Proportion of patients with of Transthyretin (TTR) mutations
Blood will be sequenced for the presence of TTR gene mutations
Measured: Baseline
Secondary outcomes (5)
Assessment of the presence of amyloid in tissue
An optional fine-needle aspirate of the abdominal fat pad will be collected
Measured: Day 30
Quantification of biomarkers of cardiac function in serum
Biomarkers that assess cardiac function will be quantified from serum
Measured: Day 30
Measurement of echocardiogram parameters
Cardiac structure and function will be measured by echocardiogram
Measured: Day 30
New York Heart Association (NYHA) Functional Classification
NYHA Functional Classification will be determined
Measured: Day 30
Results from 6-Minute Walk Test
Total distance walked in 6 minutes will be measured
Measured: Day 30
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Sep 2014 (estimated)
- Study startJun 2014
- Primary completionJan 2016
- Study completionMar 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Familial Amyloidotic Cardiomyopathy (FAC)Studies of the same condition, open and under way.
- More trials run by Alnylam PharmaceuticalsThe sponsor's other registered studies.
- 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
- 1,010 participants (actual)
Sponsor and investigators
- Lead sponsor
- Alnylam Pharmaceuticals
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Jared Gollob, MD, Study director, Alnylam Pharmaceuticals
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02252653
- Sponsor's protocol ID
- ALN-TTR-NT-002
- Status last verified
- Jul 2016
- First submitted
- 22 Sep 2014
- Last updated
- 20 Jul 2016
- Results posted
- No
- Data monitoring committee
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 20 Jul 2016. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- DISCOVERY: A Study Examining the Prevalence of TTR Mutations in Subjects Suspected of Having Cardiac Amyloidosis
- ClinicalTrials.gov ID
- NCT02252653
- Acronym / sponsor ID
- ALN-TTR-NT-002
- Keywords
- Cardiomyopathy, Heart Failure, FAC, Amyloid, Transthyretin (TTR)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 1,010 participants (actual)
- Lead sponsor
- Alnylam PharmaceuticalsIndustry (pharma, biotech, devices)
- Study start
- Jun 2014
- Primary completion
- Jan 2016 (actual)
- Study completion
- Mar 2016 (actual)
- First posted
- 30 Sep 2014 (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.
The purpose of this study is to characterize the frequency of TTR mutations in subjects suspected of having cardiac amyloidosis
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Familial Amyloidotic Cardiomyopathy (FAC) | – | – |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Subjects Suspected of Having Familial Amyloidotic Cardiomyopathy (FAC)
Key inclusion criteria (3 listed)
- Males or females >18 years old
- History of evidence suggestive of cardiac amyloidosis
- Subject is willing and able to comply with protocol required assessments and provide written informed consent
Key exclusion criteria (3 listed)
- Known diagnosis of primary (AL) amyloidosis
- Known diagnosis of hereditary cardiomyopathy or cardiomyopathy due to aortic stenosis
- Patient is currently pregnant
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
Proportion of patients with of Transthyretin (TTR) mutations
Time frame: Baseline
Blood will be sequenced for the presence of TTR gene mutations
5 secondary outcomes
Assessment of the presence of amyloid in tissue
Time frame: Day 30
Quantification of biomarkers of cardiac function in serum
Time frame: Day 30
Measurement of echocardiogram parameters
Time frame: Day 30
New York Heart Association (NYHA) Functional Classification
Time frame: Day 30
Results from 6-Minute Walk Test
Time frame: Day 30
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 20 Jul 2016.
- Individual participant dataSharing planned: Undecided
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.
Jared Gollob, MD study director
Alnylam Pharmaceuticals
58 sites in 6 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Amyloidotic Cardiomyopathy (FAC), run by Alnylam Pharmaceuticals at 58 sites in 6 countries.
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 3 inclusion and 3 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 20 Jul 2016. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 58 sites in United States, Belgium, Spain, France, United Kingdom and 1 more country. 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?
Proportion of patients with of Transthyretin (TTR) mutations (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 20 Jul 2016.