Danon DiseaseNCT07336394
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
An observational study of Danon Disease and Fabry Disease, run by Chinese Academy of Medical Sciences, Fuwai Hospital at 1 site in China.
Trial summary
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies. These are uncommon conditions where the heart muscle becomes stiff, thick, or enlarged, making it harder for the heart to pump blood. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Danon Disease, Fabry Disease, Cardiac Amyloidosis
- How many people
- 1,000 participants
- Where
- 1 siteChina
- Study dates
- 1 Jan 2010to 30 Dec 2030
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.
Who may be able to join
- Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.
Who cannot join
- Severe arrhythmia;
- Severe primary cardiac valvular disease;
- Refuse to participate in the study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Multimodality Imaging (Cardiovascular Magnetic Resonance Imaging, Echocardiography, and Nuclear Medicine Imaging) in the Screening, Diagnosis and Risk Stratification of Rare Cardiomyopathies - a Multicenter Study
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies. These are uncommon conditions where the heart muscle becomes stiff, thick, or enlarged, making it harder for the heart to pump blood. Because they are rare, they can be difficult to diagnose and manage.
The investigators are testing new, advanced ways of using a heart scan called a Cardiac Magnetic Resonance (CMR). Participants can think of a CMR as a very powerful camera that takes detailed pictures of their heart without using radiation.
Read more
What is the study trying to learn? Better Diagnosis: The investigators want to see if these new scanning techniques can help us identify these rare heart conditions more clearly and accurately. This means patients could get a correct diagnosis sooner.
Personalized Risk Assessment: The investigators want to see if the scan can help us understand the future risk for each patient better. For example, can it help predict which patients are more likely to have a heart rhythm problem or need specific treatments? This helps doctors create a care plan that is tailored just for participants.
What does this mean for participants? If participants choose to take part, they will undergo a CMR scan that uses these new techniques. By participating, they will be helping us find better ways to diagnose and care for people with their condition in the future. The goal is to turn uncertainty into clearer, more personalized information for patients and families.
Read the detailed description
Study Objective:
This study aims to validate and apply novel Cardiac Magnetic Resonance (CMR) imaging biomarkers to improve the diagnostic precision and risk stratification of rare cardiomyopathies (e.g., cardiac amyloidosis, Fabry disease, Danon disease, Noonan disease).
Clinical Problem:
Rare cardiomyopathies are often challenging to diagnose due to overlapping phenotypic features with more common disorders and their heterogeneous presentation. Current risk stratification tools are imperfect, leading to delays in diagnosis and suboptimal timing of interventions.
Methodology \& Innovation:
The study will employ advanced CMR techniques that move beyond standard volumetric and functional assessment. This includes, but is not limited to:
T1/T2 Mapping: For quantitative tissue characterization to detect diffuse fibrosis or edema without contrast.
Extracellular Volume (ECV) Fraction: To quantify the expansion of the extracellular space, a key marker in amyloidosis and other infiltrative diseases.
Feature Tracking Strain Analysis: To assess subtle myocardial deformation abnormalities that precede a decline in ejection fraction.
Late Gadolinium Enhancement (LGE) Pattern Refinement: For more precise characterization of scar and infiltration patterns.
Potential Impact for Clinical Practice:
Referral \& Diagnosis: This research could provide more definitive, non-invasive diagnostic data, streamlining the referral pathway to specialist centers and reducing diagnostic odysseys for patients.
Risk Stratification: The novel biomarkers investigated have the potential to offer superior prognostic value compared to current clinical models. This can aid in identifying high-risk patients earlier, guiding decisions regarding device therapy (ICD) initiation or referral for advanced therapies.
Management: By providing a more detailed "tissue phenotype," the findings could help monitor disease progression and response to emerging targeted therapies more sensitively.
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome, Cardiac Sarcoidosis, Glycogen Storage Disease
- Keywords
- cardiovascular magnetic resonance imaging, early diagnosis, prognosis, rare cardiomyopathies, nuclear medicine imaging, echocardiography
- Medical subject headings
- Glycogen Storage Disease Type IIb, Fabry Disease, Amyloid Neuropathies, Familial, Noonan Syndrome, Glycogen Storage Disease, Cardiomyopathies, Disease
What is being measured
The primary outcome is the main question the study is designed to answer.
Incidence Rate of All-cause Death
the incidence of all-cause death
Measured: 2-15 years
Incidence Rate of Cardiovascular Death
the incidence of cadridovascular death
Measured: 2-15 years
Incidence Rate of Heart Transplantation
Measured: 2-15 years
Secondary outcomes (3)
Incidence Rate of Hospitalization Due to Heart Failure
Measured: 2-15 years
Incidence Rate of Implantable cardioverter-defibrillator Implantation
Measured: 2-15 years
Incidence Rate of Pacemaker Implantation
Measured: 2-15 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jan 2026
- Study start1 Jan 2010
- Primary completion30 Dec 2028 (estimated)
- Study completion30 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Danon DiseaseStudies of the same condition, open and under way.
- More trials run by Chinese Academy of Medical Sciences, Fuwai HospitalThe 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
- Case-control
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- Peking Union Medical College Hospital, Beijing Anzhen Hospital, The First Affiliated Hospital with Nanjing Medical University
- Responsible party
- Principal investigator, Minjie Lu, Chinese Academy of Medical Sciences, Fuwai Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07336394
- Sponsor's protocol ID
- CMR-RareCM
- Status last verified
- May 2025
- First submitted
- 3 Jan 2026
- Last updated
- 21 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Our study data is applicable to other researchers with permmsion.
Publications
Zhang Q, Li J, Lu M. Rare imaging phenotype of late gadolinium enhancement in a patient with anoctamin 5 mutation. Eur Heart J Case Rep. 2024 Nov 23;8(12):ytae626. doi: 10.1093/ehjcr/ytae626. eCollection 2024 Dec. No abstract available.
PubMed 39659467Yue X, Yang K, Lu M. A tale of two phenotypes: transition from hypertrophic to dilated cardiomyopathy in Danon disease. Eur Heart J Case Rep. 2024 Aug 26;8(9):ytae445. doi: 10.1093/ehjcr/ytae445. eCollection 2024 Sep. No abstract available.
PubMed 39290522Lv Y, Li JH, Lu M. Glycogen storage disease type IIIa: a rare cause of myocardial hypertrophy with multisystem involvement. Eur Heart J Cardiovasc Imaging. 2025 Mar 27;26(4):764. doi: 10.1093/ehjci/jeae328. No abstract available.
PubMed 39700428He J, Xu J, Chen L, Ji K, Fan X, Zhao S, Lu M. Clinical features and cardiovascular magnetic resonance characteristics in Danon disease. Clin Radiol. 2020 Sep;75(9):712.e1-712.e11. doi: 10.1016/j.crad.2020.04.012. Epub 2020 Jun 1.
PubMed 32499120Gu X, Dai L, Lu M. Mucolipidosis III: a rare phenocopy of inherited metabolic cardiomyopathy. Eur Heart J. 2024 Nov 8;45(42):4548. doi: 10.1093/eurheartj/ehae636. No abstract available.
PubMed 39344930
Study at a glance
From the registry record, last updated by the sponsor on 21 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Multimodality Imaging (Cardiovascular Magnetic Resonance Imaging, Echocardiography, and Nuclear Medicine Imaging) in the Screening, Diagnosis and Risk Stratification of Rare Cardiomyopathies - a Multicenter Study
- ClinicalTrials.gov ID
- NCT07336394
- Acronym / sponsor ID
- CMR-RareCM
- Conditions
- Danon Disease, Fabry Disease, Cardiac Amyloidosis, Noonan Syndrome, Cardiac Sarcoidosis, Glycogen Storage Disease
- Keywords
- cardiovascular magnetic resonance imaging, early diagnosis, prognosis, rare cardiomyopathies, nuclear medicine imaging, echocardiography
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Chinese Academy of Medical Sciences, Fuwai HospitalUniversity, hospital or other
- Collaborators
- Peking Union Medical College Hospital, Beijing Anzhen Hospital, The First Affiliated Hospital with Nanjing Medical University
- Study start
- 1 Jan 2010 (actual)
- Primary completion
- 30 Dec 2028 (estimated)
- Study completion
- 30 Dec 2030 (estimated)
- First posted
- 13 Jan 2026 (actual)
- 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.
What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies. These are uncommon conditions where the heart muscle becomes stiff, thick, or enlarged, making it harder for the heart to pump blood. Because they are rare, they can be difficult to diagnose and manage.
The investigators are testing new, advanced ways of using a heart scan called a Cardiac Magnetic Resonance (CMR). Participants can think of a CMR as a very powerful camera that takes detailed pictures of their heart without using radiation.
What is the study trying to learn? Better Diagnosis: The investigators want to see if these new scanning techniques can help us identify these rare heart conditions more clearly and accurately. This means patients could get a correct diagnosis sooner.
Personalized Risk Assessment: The investigators want to see if the scan can help us understand the future risk for each patient better. For example, can it help predict which patients are more likely to have a heart rhythm problem or need specific treatments? This helps doctors create a care plan that is tailored just for participants.
What does this mean for participants? If participants choose to take part, they will undergo a CMR scan that uses these new techniques. By participating, they will be helping us find better ways to diagnose and care for people with their condition in the future. The goal is to turn uncertainty into clearer, more personalized information for patients and families.
Detailed description
Study Objective:
This study aims to validate and apply novel Cardiac Magnetic Resonance (CMR) imaging biomarkers to improve the diagnostic precision and risk stratification of rare cardiomyopathies (e.g., cardiac amyloidosis, Fabry disease, Danon disease, Noonan disease).
Clinical Problem:
Rare cardiomyopathies are often challenging to diagnose due to overlapping phenotypic features with more common disorders and their heterogeneous presentation. Current risk stratification tools are imperfect, leading to delays in diagnosis and suboptimal timing of interventions.
Methodology \& Innovation:
The study will employ advanced CMR techniques that move beyond standard volumetric and functional assessment. This includes, but is not limited to:
T1/T2 Mapping: For quantitative tissue characterization to detect diffuse fibrosis or edema without contrast.
Extracellular Volume (ECV) Fraction: To quantify the expansion of the extracellular space, a key marker in amyloidosis and other infiltrative diseases.
Feature Tracking Strain Analysis: To assess subtle myocardial deformation abnormalities that precede a decline in ejection fraction.
Late Gadolinium Enhancement (LGE) Pattern Refinement: For more precise characterization of scar and infiltration patterns.
Potential Impact for Clinical Practice:
Referral \& Diagnosis: This research could provide more definitive, non-invasive diagnostic data, streamlining the referral pathway to specialist centers and reducing diagnostic odysseys for patients.
Risk Stratification: The novel biomarkers investigated have the potential to offer superior prognostic value compared to current clinical models. This can aid in identifying high-risk patients earlier, guiding decisions regarding device therapy (ICD) initiation or referral for advanced therapies.
Management: By providing a more detailed "tissue phenotype," the findings could help monitor disease progression and response to emerging targeted therapies more sensitively.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 10 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.
Key inclusion criteria (1 listed)
- Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.
Key exclusion criteria (3 listed)
- Severe arrhythmia;
- Severe primary cardiac valvular disease;
- Refuse to participate in the study.
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
Incidence Rate of All-cause Death
Time frame: 2-15 years
the incidence of all-cause death
Incidence Rate of Cardiovascular Death
Time frame: 2-15 years
the incidence of cadridovascular death
Incidence Rate of Heart Transplantation
Time frame: 2-15 years
3 secondary outcomes
Incidence Rate of Hospitalization Due to Heart Failure
Time frame: 2-15 years
Incidence Rate of Implantable cardioverter-defibrillator Implantation
Time frame: 2-15 years
Incidence Rate of Pacemaker Implantation
Time frame: 2-15 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Jan 2026.
- Results publication: PubMed 39659467Zhang Q, Li J, Lu M. Rare imaging phenotype of late gadolinium enhancement in a patient with anoctamin 5 mutation. Eur Heart J Case Rep. 2024 Nov 23;8(12):ytae626. doi: 10.1093/ehjcr/ytae626. eCollection 2024 Dec. No abstract available.
- Results publication: PubMed 39290522Yue X, Yang K, Lu M. A tale of two phenotypes: transition from hypertrophic to dilated cardiomyopathy in Danon disease. Eur Heart J Case Rep. 2024 Aug 26;8(9):ytae445. doi: 10.1093/ehjcr/ytae445. eCollection 2024 Sep. No abstract available.
- Results publication: PubMed 39700428Lv Y, Li JH, Lu M. Glycogen storage disease type IIIa: a rare cause of myocardial hypertrophy with multisystem involvement. Eur Heart J Cardiovasc Imaging. 2025 Mar 27;26(4):764. doi: 10.1093/ehjci/jeae328. No abstract available.
- Results publication: PubMed 32499120He J, Xu J, Chen L, Ji K, Fan X, Zhao S, Lu M. Clinical features and cardiovascular magnetic resonance characteristics in Danon disease. Clin Radiol. 2020 Sep;75(9):712.e1-712.e11. doi: 10.1016/j.crad.2020.04.012. Epub 2020 Jun 1.
- Results publication: PubMed 39344930Gu X, Dai L, Lu M. Mucolipidosis III: a rare phenocopy of inherited metabolic cardiomyopathy. Eur Heart J. 2024 Nov 8;45(42):4548. doi: 10.1093/eurheartj/ehae636. No abstract available.
- Individual participant dataSharing planned: No. Our study data is applicable to other researchers with permmsion.
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Danon Disease
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Rare Glycogen Storage Diseases Natural History Study
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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.
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 Danon Disease and Fabry Disease, run by Chinese Academy of Medical Sciences, Fuwai Hospital at 1 site in China.
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 1 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: looking for participants now, as of the sponsor's last update on 21 Jan 2026. 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 China. 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Minjie Lu MD, PhD (01088396941, coolkan@163.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Incidence Rate of All-cause Death (time frame: 2-15 years). The study lists 3 primary outcomes in all. 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 NCT07336394, which also lists 5 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 21 Jan 2026.