Status:

RECRUITING

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

Lead Sponsor:

China National Center for Cardiovascular Diseases

Conditions:

Fabry Disease, Cardiac Variant

Eligibility:

All Genders

18+ years

Brief Summary

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, result...

Eligibility Criteria

Inclusion

  • 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

  • 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.

Key Trial Info

Start Date :

December 31 2024

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

December 30 2026

Estimated Enrollment :

300 Patients enrolled

Trial Details

Trial ID

NCT06512571

Start Date

December 31 2024

End Date

December 30 2026

Last Update

March 26 2025

Active Locations (1)

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Page 1 of 1 (1 locations)

1

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

Beijing, China, 100037