RecruitingNCT02432092
Cardiovascular
Restrictive Cardiomyopathy
Also known as RCM, idiopathic restrictive cardiomyopathy, TNNI3/TNNT2 mutation
Restrictive Cardiomyopathy is the rarest primary cardiomyopathy, characterised by impaired ventricular filling due to abnormal myocardial stiffness in the absence of pathological hypertrophy or dilatation, resulting in severely elevated fil
ORPHA:75249 ↗Gene TNNI3Gene TNNT2Gene MYH7Prevalence Less than 1 per 100,000; least common primary cardiomyopathyOnset Any age; idiopathic genetic form often in childhood or young adulthoodAutosomal dominant (genetic forms)
5
studies recruiting now
as of 7 Sept 2026
24
studies registered in total
as of 7 Sept 2026
5
countries with a recruiting site
as of 7 Sept 2026
23 Sept 2024
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT06546137
National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
RecruitingNCT06607471
Multimodal and Multidisciplinary Approach to Optimize Diagnostic, Prognostic, and Therapeutic Management of Patients with Non-ischemic Cardiomyopathies and Arrhythmogenic-inflammatory Phenotypes: a Multicenter, Observational, Retrospective and Prospective Registry Study.
RecruitingNCT06129656
Cardiac Amyloidosis Registry of University Hospital Leipzig
RecruitingNCT03479580
Coronary Artery Disease and Coronary Microvascular Disease in Cardiomyopathies Registry
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Restrictive Cardiomyopathy
Restrictive Cardiomyopathy is the rarest primary cardiomyopathy, characterised by impaired ventricular filling due to abnormal myocardial stiffness in the absence of pathological hypertrophy or dilatation, resulting in severely elevated filling pressures, biatrial enlargement, and refractory heart failure. Genetic forms are caused by mutations in sarcomeric protein genes, particularly TNNI3 and TNNT2, while secondary forms arise from infiltrative diseases such as amyloidosis, sarcoidosis, and haemochromatosis. Prognosis is poor, especially in children, with many patients requiring cardiac transplantation within years of diagnosis.
Common clinical features
Severe exertional dyspnoea and orthopnoeaMarkedly elevated jugular venous pressurePeripheral oedema and ascitesBiatrial enlargement on echocardiography with normal or near-normal ventricular sizeRestrictive transmitral Doppler filling patternAtrial fibrillationThromboembolic eventsRapidly progressive heart failure refractory to diuretic therapy
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Restrictive Cardiomyopathy. Not eligibility rules; those are set by each study.
- Excluding secondary causes of restriction (amyloidosis, sarcoidosis, haemochromatosis, radiation) is mandatory before enrolment in idiopathic RCM trials; an infiltrative disease workup including cardiac MRI and metabolic studies should be completed.
- Haemodynamic data from right heart catheterisation (elevated filling pressures, preserved cardiac output at rest) are often required to confirm the restrictive physiology classification used for eligibility.
- Genetic testing to identify sarcomere mutations links some patients to broader inherited cardiomyopathy trials; obtain panel results as they may open additional eligibility pathways.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).