Using advanced imaging to detect heart issues in Fabry disease
Molecular Imaging in Fabry Disease of the Heart
This study is testing a new imaging technique to see if it can help find heart problems earlier in people with Fabry disease.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 12 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University of Cambridge Academic / other |
| Locations | 1 site (Cambridge, Cambridgeshire) |
| Trial ID | NCT06226987 on ClinicalTrials.gov |
What this trial studies
This study aims to improve early detection of cardiac involvement in patients with Fabry disease by utilizing 68Ga-DOTATATE PET/MRI imaging techniques. The research focuses on identifying myocardial inflammation, which is crucial for timely clinical management and intervention. By examining patients with documented cardiac involvement, the study seeks to uncover subtle changes in heart tissue that conventional diagnostic methods may miss. This approach could lead to better treatment strategies and outcomes for individuals affected by this condition.
Who should consider this trial
Good fit: Ideal candidates for this study are adults over 18 years old with a confirmed diagnosis of Fabry disease and documented cardiac involvement.
Not a fit: Patients with other conditions causing cardiac inflammation or those who have undergone gene therapy may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance early diagnosis and management of cardiac complications in Fabry disease, potentially improving patient outcomes.
How similar studies have performed: While the use of advanced imaging techniques in similar contexts has shown promise, this specific approach in Fabry disease is relatively novel and untested.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Male or female participants \>18 years old * Able to give written, informed consent and to lie flat * Have Fabry disease based on molecular diagnosis (at a minimum, documented enzyme deficiency in males and documented pathogenic mutation in females) * Cardiac MRI within 3 years documenting cardiac involvement in Fabry disease (left ventricular hypertrophy and/or late gadolinium enhancement and/or myocardial oedema) Exclusion Criteria: * Any other diagnosis associated with cardiac muscle inflammation, including myocarditis * Previous gene therapy * Contra-indication to MRI scanning or intravenous gadolinium contrast (prior contrast reaction or chronic kidney disease with eGFR \<30 mL/min/1.73 m2) * Women of child bearing potential not using adequate contraception * Uncontrolled atrial fibrillation * Any medical condition, in the opinion of the investigator, that prevents the participant from lying flat during scanning, or from participating in the study
Where this trial is running
Cambridge, Cambridgeshire
- Cambridge University Hospital NHS Foundation Trust — Cambridge, Cambridgeshire, United Kingdom (Recruiting)
Study contacts
- Study coordinator: Jason M Tarkin, PhD MBBS
- Email: jt545@cam.ac.uk
- Phone: +44(0)1223331504
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.