View clinical trials related to Anderson-Fabry Disease.
Filter by: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.
In the shared decision-making process, patients should express their expectations and preferences regarding treatment to the physician. A specific questionnaire addressing needs and expectations of Fabry patients has been built at the initiative of Amicus. In addition, this questionnaire also evaluates the benefit of treatment from the patient's perspective. Nothing is known until now on patient's expectations, potential clustering of patients regarding their expectations and evaluation of treatment benefit from the patients perspective. Study objectives are differentiated according to the study phase (inclusion and follow-up). At inclusion, the primary objective is to cluster patients according to their needs and expectations regarding treatment. During follow-up, the primary objective is to evaluate treatment benefit in relation with patients needs and expectations.
Anderson Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase. AFD can involve various organs and lead to a series of clinical abnormalities. Left ventricular hypertrophy in middle-aged men is one of its life threatening complications. It was shown that pending the absence of myocardial replacement fibrosis, substitution therapy could improve myocardial morphology and function as well as exercise capacity. Today, there is no available marker of the efficacy of the treatment on the heart morphology and function. The T1 time (or longitudinal relaxation time) is one of the major components of the image formation in Magnetic Resonance Imaging (along with T2 time and proton density). Several techniques have been described to assess the myocardial T1-time. One of them called MOLLI (Modified Look Locker Inversion Recovery), was made available in research centres by the Siemens company. In a study published in 2013, Sado et al. showed in a series of various conditions (hypertension, AFD, hypertrophic cardiomyopathy, AL amyloidosis, aortic stenosis and healthy volunteers) that a septal T1 below a threshold of 940ms could discriminate AFD patients. No overlap was shown with other conditions in this study. Our experience with T1 mapping supports that finding (even though our threshold could be slightly different), and we could recently detect by MRI a number of AFD patients, some of them with hypertrophy, some others without hypertrophy. The effect of Replagal® on the T1 relaxation time remains unknown. The purpose of that study was to follow-up the heart morphology, function and myocardial T1 relaxation time in a population of treated/untreated patients.
The current approved treatment for Fabry disease is enzyme replacement therapy (ERT). There are actually 2 products in this therapeutic class available: Replagal® (agalsidase alfa) and Fabrazyme® (agalsidase beta). Both are indicated for long-term treatment in patients with a confirmed diagnosis of Fabry disease (alfa-galactosidase A deficiency). Both have been commercially available in Europe for almost 10 years, yet little information is available about the clinical and safety profile of patients who switch from one therapy to the other. An extended shortage of Fabrazyme® that began in June 2009 has necessitated that a large number of patients switch from Fabrazyme® to Replagal®. This offers the possibility to study the clinical status and adverse events in patients who switch from Fabrazyme® to Replagal® on a large-scale basis. In addition, as a result of the increasing Fabrazyme® shortage, many of these patients received a reduced dosage of Fabrazyme® for an extended period before transitioning to treatment with Replagal®.