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Fabry Disease Clinical Trials

A listing of Fabry Disease medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

RESULTS

Found (37) clinical trials

Study of the Safety Efficacy & PK of Pegunigalsidase Alfa (PRX-102) 2 mg/kg IV Administered Every 4 Weeks in Fabry Disease Patients

This is an open-label switchover study to assess the safety, efficacy, and pharmacokinetics of pegunigalsidase alfa treatment of 2 mg/kg every 4 weeks in patients previously treated with enzyme-replacement therapy (ERT): agalsidase alfa or agalsidase beta, for at least 3 years and on a stable dose (>80% labelled dose/kg) for ...

Phase

Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy

Despite long-term recombinant enzyme replacement therapy, kidney failure remains a common and important complication of Fabry disease. Recent studies suggest that early administration of enzyme replacement therapy in sufficient dosage may prevent progression of kidney failure in patients with Fabry disease. Currently, there is no reliable non-invasive biomarker to detect ...

Phase N/A

Diagnosis of Fabry Disease: Impact of an Educational Brochure Intended for Cardiologist

The cardiac Fabry disease are early, frequent and severe, dominated by the frequency of left ventricular hypertrophy. They are responsible for a high morbidity and mortality, reducing life expectancy of 15 to 20 years for men. Fabry disease and heart attacks are still diagnosed late. This delay in diagnosis is ...

Phase N/A

Evaluation of HEArt invoLvement in Patients With FABRY Disease

Fabry disease is a rare disease and part of the group of lysosomal storage disorders. Natural history of Fabry disease has proven poor survival to ages >50 years outlining the importance to evaluate cardiac symptoms and outcomes of patients with Fabry disease. This study is a prospective cohort study and ...

Phase N/A

Evaluation of the Gastrointestinal Manifestation of Fabry's Disease

Background: Gastrointestinal manifestations such as abdominal pain, diarrhea and nausea are prominent and, although typically non life-threatening, can frequently cause significant morbidity and burden in a patient with Fabry disease. Additional in depth understanding of gastrointestinal symptoms pathophysiology in Fabry disease is acutely needed in order to develop more specific ...

Phase N/A

Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan

Small fiber polyneuropathy (SFPN) is diagnosed through a combination of symptoms, signs and confirmatory diagnostic testing. Nerve conduction studies are not sensitive enough in most of the cases leaving the ankle skin biopsy with measurement of intraepidermal nerve fiber density (IENFD) as the main diagnostic tool. Despite its utility and ...

Phase N/A

Impact of Enzyme Replacement Therapy on Cardiac Function in Patients With Fabry's Cardiomyopathy (RECAFTURE Trial)

Objectives -The purpose of this study is to evaluate the impact of ERT on LV diastolic function and flow in patients with Fabry's cardiomyopathy using diastolic stress echocardiography, LV vortex flow and CMR. Primary / Secondary Endpoint 1) Primary endpoint Changes of peak exercise E/E' by diastolic stress echocardiography (RECAP-F ...

Phase N/A

Stroke in Young Fabry Patients (sifap2): Characterization of the Stroke Rehabilitation

In a group of young stroke patients with diagnosed Fabry disease the stroke rehabilitation will be investigated during different prophylactic therapeutic approaches. In this study the investigator will not be given any instructions on stroke and Fabry therapy. All patients with any etiology of stroke and a diagnosed Fabry disease ...

Phase N/A

Fabry Disease in Cerebrovascular Disease

This is a cross-sectional, population-based study to identify Fabry disease in patients with early cerebrovascular involvement. Eligible patients are age above 18 years old (<=55 years old) with early cerebrovascular involvement and have provided inform consent. Patients who have been diagnosed Fabry disease are not eligible. The present study will ...

Phase N/A

Study of the Prevalence of Fabry Disease in French Dialysis Patients

Fabry Disease (FD) is a rare genetic lysosomal storage disease including an X-linked mutation and characterized by an alpha-galactosidase A (GLA) deficiency. It causes globotriaosylceramide (GB3) accumulation within blood vessels, tissues and organs. This accumulation leads to multisystemic deficiency, such as progressive kidney insufficiency. Due to its low prevalence and ...

Phase N/A