Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score

NCT04943991 | Active Not Recruiting

• 1 other identifier: FAPREV-HCM
• Study Type: interventional
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

This study aims to evaluate the prevalence of Fabry Disease (FD) among a cohort of high risk patients with left ventricular hypertrophy (LVH) presenting at the University Hospital Würzburg over the last 20 years. Fabry disease is a rare disease that is known to be consistently underdiagnosed due to its largely variable symptoms. Considering that an early Fabry diagnosis is crucial for maximum benefit from therapies available, screening for Fabry patients can contribute to preventing development and worsening of symptoms in Fabry patients with LVH. In addition, a positive diagnosis in a family member opens the possibility to diagnose further family members in an earlier stage of the disease, therefore allowing treatment of symptoms and organ manifestations before they become irreversible.

Conditions

Fabry Disease; Fabry Disease, Cardiac Variant; Lysosomal Storage Diseases; HCM - Hypertrophic Cardiomyopathy; Anderson Fabry Disease

Keywords

prevalence; fabry disease; HCM; hypertrophic cardiomyopathy; rare disease; diagnostics; lysosomal storage diseasese

Outcome Measures

Primary Outcomes (3)

• Alpha Galactosidase level

  A blood sample will be taken to determine alpha-galactosidase level. If alpha-galactosidase level is low, FD specific genetic testing is advised (outside this study in the regular clinical routine).

  1 day (Once after inclusion & informed consent)

• Lyso-GB3 level

  A blood sample will be taken to determine alpha-galactosidase level. If LysoGb3-level is high, FD specific genetic testing is advised (outside this study in the regular clinical routine).

  1 day (Once after inclusion & informed consent)

• Genetic testing

  Optional testing of fabry specific GLA-gene

  1 day (Once after inclusion & informed consent)

Study Arms (1)

Patients with HCM/LVH at University Hospital Wuerzburg

OTHER

Diagnostic Test: blood sampling (alpha-Galactosidase & LysoGb3)

Interventions

blood sampling (alpha-Galactosidase & LysoGb3) DIAGNOSTIC_TEST

A blood sample will be taken. Alpha-Galactosidase level and LysoGb3 will be measured. Amendment: Offering of genetic testing for fabry specific GLA-gene

Patients with HCM/LVH at University Hospital Wuerzburg

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• At least 18 years old
• Written informed consent
• Preliminary diagnosis of hypertrophic non-obstructive cardiomyopathy

You may not qualify if:

• Severe outflow tract obstruction
• Positive genetic testing for sarcomeric HCM or other hereditary disease

Sponsors & Collaborators

• Wuerzburg University Hospital: lead
• Takeda: collaborator

Study Sites (1)

University Hospital Wuerzburg

Würzburg, Bavaria, 97080, Germany

Location

Related Publications (3)

• Doheny D, Srinivasan R, Pagant S, Chen B, Yasuda M, Desnick RJ. Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. J Med Genet. 2018 Apr;55(4):261-268. doi: 10.1136/jmedgenet-2017-105080. Epub 2018 Jan 12.

  PMID: 29330335 BACKGROUND

• Kim WS, Kim HS, Shin J, Park JC, Yoo HW, Takenaka T, Tei C. Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy. J Korean Med Sci. 2019 Feb 15;34(7):e63. doi: 10.3346/jkms.2019.34.e63. eCollection 2019 Feb 25.

  PMID: 30804731 BACKGROUND

• Lau K, Sokalski V, Lorenz L, Fette G, Sommer C, Uceyler N, Wanner C, Nordbeck P. Automated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM). Open Heart. 2025 Jan 11;12(1):e003116. doi: 10.1136/openhrt-2024-003116.

  PMID: 39800432 DERIVED

MeSH Terms

Conditions

Fabry Disease; Fabry Disease, Cardiac Variant; Lysosomal Storage Diseases; Cardiomyopathy, Hypertrophic; Rare Diseases

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Cardiomyopathies; Heart Diseases; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 22, 2021
• First Posted: June 29, 2021
• Study Start: July 1, 2021
• Primary Completion: October 1, 2022
• Study Completion: October 1, 2024
• Last Updated: June 12, 2024

Record last verified: 2024-06

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)