ClinicalTrials.gov record NCT06512571

CVI Alterations in FD: a Prospective, Multicenter, Observational Cohort Study

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

The Characteristics of Cardiovascular Imaging Alterations in Patients with Fabry Cardiomyopathy: a Prospective, Multicenter, Observational Cohort Study

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old and older
SexAll
LocationChina
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective observational study collects heart imaging and clinical data from adults with Fabry cardiomyopathy. Participants are followed over time and the study records cardiovascular events and deaths, with outcomes reported at 12 months. The goal is to describe imaging changes and clinical outcomes in this group.

What it is studying. Whether and how cardiovascular imaging findings in people with Fabry cardiomyopathy are associated with clinical events and outcomes.

What the researchers hope to learn. To describe the characteristics of cardiovascular imaging alterations in patients with Fabry cardiomyopathy and to record cardiovascular deaths and major cardiac events (heart failure progression, stroke, myocardial infarction, and all-cause death) over 12 months.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (GLA) gene mutations leading to reduced or undetectable α galactosidase A (α-Gal A) enzyme activity, resulting in progressive accumulation of globotriaosylceramide (GL3) and its deacylated form globotriaosylsphingosine (Lyso-GL-3) in multiple organs, causing neural, renal, cardiac, dermatological, gastrointestinal and ophthalmic manifestations, even leading to life-threatening complications. Cardiovascular and cerebrovascular complications (i.e. heart failure, stroke, etc.) or end-stage renal disease even premature death can be seen in severe cases. The life expectancy of male patients is reduced by 15~20 years, while that of female patients is reduced by 6~10 years. The exact prevalence of FD is currently unknown. Based on an estimated prevalence of 1:60,000, there are approximately 23,000 affected FD patients in China. The clinical manifestations of FD are diverse and non-specific, which may lead to misdiagnosis in patients with non-typical clinical manifestations in the absence of a family history of FD. Cardiac involvement can be recognized in up to 68% patients with FD, significantly higher than in other organs, and the positive screening rate for FD in adults with unexplained left ventricular hypertrophy (LVH)/hypertrophic cardiomyopathy was 0.9%. Cardiovascular disease is the leading cause of death in patients with FD cardiomyopathy (40.2%). The 2020 Expert Consensus Document on the Management of Cardiovascular Manifestations of Fabry Disease recommends early screening in patients with suspected LVH for early diagnosis. Therefore, strengthened screening strategy in high-risk patients with LVH will improve the diagnosis and treatment of FD in China.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Patients to be enrolled in this study should fulfill all 3 criteria (a, b, and c) at screening:
  • Patients with a maximum myocardial wall thickness (left ventricular posterior wall or septum) of ≥13 mm at the end diastole on echocardiography;
  • At least two or more "warning signs" associated with FD ("warning signs" include cardiac "warning signs", extracardiac "warning signs", or family history)
  • Aged 18 years old or older;
  • cardiac "warning signs" of FD:
  • Concentric LVH or papillary hypertrophy or right ventricular hypertrophy on echocardiography
  • ECG abnormalities (eg, shortened PR interval, wide QRS complex, right bundle branch block, ST-segment depression, etc.)
  • Extra-cardiac "warning signs" of FD
  • Angiokeratomas
  • Acroparesthesia
  • Hypohidrosis
  • Premature stroke (<50 years of age)
  • Corneal verticillate
  • Renal impairment accompanied by proteinuria
  • Hearing loss
  • Family history
  • Family history of X-linked inherited disorder (renal disease or cardiac disease)

Exclusion criteria

  • LVH patients with a clear etiology;
  • Combining any other clinical condition with a life expectancy less than 1 year;
  • Refuse to give informed consent or refuse to be followed-up.

Study description and what participation involves

The registry record has no detailed description beyond the summary above.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

People will be screened (including echocardiography to confirm wall thickness) and have medical and family history taken to document Fabry "warning signs." If enrolled, their health will be followed and cardiovascular outcomes (heart failure progression, stroke, myocardial infarction) and deaths will be recorded over 12 months. Participation requires giving informed consent and agreeing to follow-up. The registry record does not list other specific study procedures.

How the study is structured. A prospective observational cohort: researchers collect heart imaging and other clinical data without assigning treatments. Participants undergo imaging and routine follow-up; the study records major cardiovascular events and deaths over a 12‑month period.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in China. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Dec 31, 2024
Primary completion
Dec 30, 2026 (estimated)
Study completion
Dec 30, 2026 (estimated)
Target enrollment
300 participants (estimated)
Last updated on registry
Mar 26, 2025
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
China National Center for Cardiovascular Diseases

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

  • Fuwai Hospital, National Centre for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical CollegeRecruiting

    Beijing, 100037 · China

Terms used on this page · explanations by MedicalUpdates.ai

life expectancy
Some studies require that, in the investigator's judgement, a participant is likely to live long enough to complete the study period. It is a study requirement, not a prediction about any individual.
at screening
The checks done before enrolment to see whether a person qualifies, such as tests, scans or a review of medical history.
echocardiography
An ultrasound scan of the heart. A transesophageal echocardiogram is done through a probe passed into the food pipe for a closer view.
ECG
A recording of the heart's electrical activity. QTc is one measurement from it; some drugs are avoided if it is prolonged.
informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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