CVI Alterations in FD: a Prospective, Multicenter, Observational Cohort Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Fabry Disease, Cardiac Variant. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
The Characteristics of Cardiovascular Imaging Alterations in Patients with Fabry Cardiomyopathy: a Prospective, Multicenter, Observational Cohort Study
Overview
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.
Primary outcome measures
- Cardiovascular deaths [Time frame: 12 months]
Secondary outcome measures (4)
- Heart failure [Time frame: 12 months]
- Stroke [Time frame: 12 months]
- Myocardial infarction [Time frame: 12 months]
- All-cause deaths [Time frame: 12 months]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
China · 1 center
- Fuwai Hospital, National Centre for Cardiovascular Disease, Chinese Academy of Medical Sci — Beijing
Identifiers
NCT: NCT06512571 · 2023-ZX084