96 Clinical Trials for Various Conditions
In Fabry disease (FD), α-galactosidase A deficiency leads to the accumulation of globotriaosylceramide (Lyso-Gb3 and Gb3), triggering a pathologic cascade that causes progressive damage to multiple organs, including the heart. The heart is one of the organs that is very sensitive to the deficiency of α-galactosidase A. There is a subgroup of patients with significant residual α-galactosidase activity and a phenotype with primary cardiac involvement, occasionally referred as "cardiac variant." The manifestations of cardiac involvement in FD are left ventricular hypertrophy (LVH), diastolic dysfunction, microvascular angina. Cardiac hypertrophy is the most common cardiac pathology and cause of death in patients with FD. The elevation of the inflammatory markers strongly demonstrates that chronic inflammation drives the cardiovascular pathophysiology in FD. Moreover, plasma TNF, TNFR2, Il-6 specifically elevated in FD patients with cardio hypertrophy. The chronic inflammation in combination with elevated Lyso-Gb3 further drives the FD progression even under therapy. The expression of the endothelial-cardiomyocyte growth factors will change in response to chronic inflammation during the development of cardiac hypertrophy. This is a clinical observational study designed to identify the role of inflammatory signaling markers and secreted growth factors in the progression of cardiac pathology in FD
The purpose of this research project is: * to use an advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD * to use fMRI to identify altered brain function * to use FBFI and fMRI together to map altered connectivity in response to brain lesions
Patients will undergo a SmartPill test to gain additional understanding of Fabry disease manifestation via motility abnormalities in order to improve symptom targeted therapy. An additional Endoscopic mucosal resection may be performed on further qualifying patients. Tissue analysis from this biopsy will include evaluation of abnormalities of cellular structure and morphology with correlation with gastrointestinal complaints for each patient and comparison against age matched non-Fabry patient tissue. The hypothesis is that patients with fabry disease will have abnormal motility which will correlate with the patients symptoms and quality of life as noted on the questionnaires.
This program allows physicians to request permission from Amicus Therapeutics (Amicus) for treatment access to migalastat hydrochloride (HCl) for specific patients with Fabry disease. Treatment is open label.
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. Fabrazyme is a drug that helps to breakdown and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid (globotriaosylceramide or GL-3) levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study is designed to verify that no loss of Fabrazyme occurs during simultaneous Fabrazyme infusion and hemodialysis in patients currently receiving Fabrazyme at a dose of 1.0 mg/kg every 2 weeks.
The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status. No experimental intervention is involved; patients in the Registry undergo clinical assessments and receive care as determined by the patient's treating physician. The primary objectives of the Registry are: * To enhance the understanding of the variability, progression, and natural history of Fabry disease, including heterozygous females with the disease; * To assist the Fabry medical community with the development of recommendations for monitoring patients and reports on patient outcomes to help optimize patient care; * To characterize and describe the Fabry population as a whole; * To evaluate the long-term safety and effectiveness of Fabrazyme® Fabry Pregnancy Sub-registry: This Sub-registry is a multicenter, international, longitudinal, observational, and voluntary program designed to track pregnancy outcomes for any pregnant woman enrolled in the Fabry Registry, regardless of whether she is receiving disease-specific therapy (such as enzyme replacement therapy with agalsidase beta) and irrespective of the commercial product with which she may be treated. Data from the Sub-registry are also used to fulfill various global regulatory requirements, to support product development/reimbursement, and for other research and non-research-related purposes. No experimental intervention is given; thus a patient will undergo clinical assessments and receive standard of care treatment as determined by the patient's physician. If a patient consents to this Sub-registry, information about the patient's medical and obstetric history, pregnancy, and birth will be collected, and, if a patient consents to data collection for her infant, data on infant growth through month 36 postpartum will be collected.
People with Fabry Disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme. Fabrazyme (agalsidase beta) is a drug that helps to break down and removes certain types of fatty substances called "glycolipids". These glycolipids are normally present within the body in most cells. In Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid (globatriaosylceramide or GL-3) levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study analyzed the safety and efficacy of Fabrazyme in the treatment of patients with Fabry disease that previously participated in the AGAL-008-00 (NCT0074984) study.
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. Fabrazyme (agalsidase beta) is a drug that helps to breakdown and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid ("globotriaosylceramide" or "GL-3") levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study will test the safety and efficacy of Fabrazyme in the treatment of patients with Fabry disease.
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. Fabrazyme is a drug that helps to breakdown and remove certain types of fatty substances called "glycolipids." These glycolipids are normally present within the body in most cells. In Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid ("globatriaosylceramide" or "GL-3") levels in these tissues in particular is thought to cause the clinical symptoms that are common to Fabry disease. This study will test the safety and efficacy of Fabrazyme in the treatment of patients with Fabry disease.
People with Fabry disease have an alteration in their genetic material (DNA) which causes a deficiency of the a-galactosidase A enzyme. This enzyme helps to break down and remove certain types of fatty substances called "glycolipids". These glycolipids are normally present within the body in most cells. In people with Fabry disease, glycolipids build up in various tissues such as the liver, kidney, skin, and blood vessels because a-galactosidase A is not present, or is present in small quantities. The build up of glycolipid levels (also referred to as "globotriaosylceramide" or "GL-3") in these tissues is thought to cause the clinical symptoms that are common to Fabry disease. Symptoms commonly appear during childhood with pain in the hands and feet. This study explored the safety, efficacy and pharmacokinetics of Fabrazyme in pediatric patients aged between 7 and 15 years.
This study will determine the safety of the drug Replagal or treating patients with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called Alpha-galactosidase A, which normally breaks down a fatty substance called globotriaosylceramide (Gb3), is missing or does not function properly. The resulting accumulation of Gb3 causes problems with the kidneys, heart, nerves, and blood vessels. Replagal is a genetically engineered form of Alpha-galactosidase A. Previous studies have shown that patients with Fabry disease who had not progressed to end-stage kidney failure tolerated Replagal replacement therapy well. This study will examine the effects of the drug in patients with kidney problems associated with Fabry disease. Patients with Fabry disease who are on kidney dialysis, or have had a kidney transplant, may be eligible for this study. During this 6 to 12-month study, participants will receive a 40-minute intravenous (IV) infusion of Replagal every other week, with close monitoring during and after the infusions. Before the first infusion, patients will be evaluated with a medical history, physical and neurological examinations, electrocardiogram (ECG), routine blood and urine tests, kidney test, and measurements of height, weight, and vital signs (blood pressure, pulse, breathing rate, temperature). In addition, they will have pharmacokinetic studies immediately before and following the first infusion of Replagal. For these studies, blood samples of less than a teaspoon each will be drawn to measure the level of Replagal enzyme activity. The samples will be collected at the following time points: immediately before the infusion; 20 minutes into the infusion; at the end of the infusion; after the infusion at 50, 60, and 90 minutes, and 2, 3, 4, and 8 hours. Safety evaluations will be done once a week for the first month and then once a month for the rest of the study period. These evaluations include a physical examination, measurement of vital signs, electrocardiogram, routine blood and urine tests, and kidney testing.
This protocol will collect information needed to design a clinical study for the symptoms and problems of women with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called a-galactosidase A, which normally breaks down fatty substances called glycolipids, does not function properly. The resulting accumulation of glycolipids in various tissues causes arm and leg pain, skin lesions, and problems with the kidneys, heart, nerves, and blood vessels. This protocol does not involve any experimental drug treatments, but participants may be offered enrollment in future studies and registries. Women 18 years of age and older with Fabry disease who have not had enzyme replacement therapy may participate in this study. Pregnant women are eligible, but may be excluded from certain procedures, such as magnetic resonance imaging (MRI). Participants will have the following tests and procedures over a 3-day period: * Personal and family medical history * Physical, neurological, and eye examinations * Blood and urine tests * Electrocardiogram (ECG) to measure electrical activity of the heart * Echocardiogram (ultrasound) to examine the heart muscles and pumping action * Magnetic resonance imaging (MRI) to examine the brain. This test uses a magnetic field and radio waves to produce images of the brain. The patient lies in a narrow cylinder (the MRI scanner) during the imaging and may talk with staff at any time during the procedure. * Magnetic resonance angiogram (MRA) to examine the blood vessels in the head and neck. This procedure is similar to MRI. * Genotyping to confirm the diagnosis of Fabry disease. DNA from a blood sample will be examined for the gene associated with Fabry disease. * Skin punch biopsy for microscopic examination of tissue. A piece of skin tissue about 1/8-inch thick is removed with a cookie cutter-like instrument. Participants will also complete two questionnaires regarding pain and quality of life. They will be asked to stop taking pain medications for 7 days before completing the pain questionnaire, but may resume medications before 7 days if the pain is too intense. The questionnaire will be completed by telephone interview. Patients will also be asked to keep a diary of pain medications taken for 7 days while on the study.
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls, tumors on the thighs, buttocks, and genitalia, decreased sweating, tingling sensations in the extremities, and cataracts. Patients with Fabry 's disease die from complications of the kidney, heart, or brain. The purpose of this study is to measure levels of a protein marker (PGP 9.5) in the skin, blood, and fluid surrounding the brain and spinal cord (CSF) in patients with Fabry's disease. In addition the study will attempt to determine if levels of the protein are directly related to the severity of disease in the nervous system. PGP 9.5 protein levels will be measured in normal volunteers and patients with other diseases of the nervous system then compared to the levels recorded in patients with Fabry's disease. This research study is designed to improve the understanding of Fabry's disease. Patients participating in it will not directly benefit from it. However, knowledge gained as a result of this study may contribute to the development of effective therapies for Fabry's disease.
The goal of this observational registry is to evaluate the safety and outcomes of pregnancy and lactation in women with Fabry disease who are exposed to pegunigalsidase alfa within 30 days prior to conception and/or during pregnancy and lactation. The main objectives are to: * Assess pregnancy outcomes, including maternal and infant health. * Evaluate the occurrence of congenital malformations and other neonatal outcomes. This is a global, decentralized, single-arm, prospective and retrospective registry planned to enroll participants over a 10-year period. Eligible patients may be enrolled by their physician or may self-enroll, where permitted by local regulations. Data will be collected through a secure web-based platform, allowing patients and physicians to enter information via electronic case report forms (eCRFs). Pregnancy and clinical outcomes will be documented throughout pregnancy and up to 12 months post-birth. Data from self-enrolled patients will be confirmed by their primary care or attending physician. This registry is observational and does not impact clinical care or treatment decisions.
An open-label study to evaluate the safety, pharmacokinetics (PK), pharmacodynamics (PD), and efficacy of migalastat treatment in pediatric subjects 2 to \< 12 years of age with Fabry disease and with amenable GLA variants.
This Phase 1/2 first-in-human (FIH) study is designed to evaluate the safety, tolerability, pharmacokinetics (PK), and efficacy of HM15421 in patients with FD.
A multi-centre, multi-country, observational, non-interventional, retrospective and prospective (hybrid) study among Fabry disease participants treated with pegunigalsidase alfa (Elfabrio®) in routine clinical care.
This is an open-label, multi-center study to evaluate safety, tolerability, and exploratory efficacy of a single dose of intravenously-administered AMT-191. The plan is to investigate 2 sequential dose cohorts with 3-6 Participants per cohort. Participants will continue receiving regularly scheduled enzyme replacement therapy (ERT) until they meet the criteria for withdrawal.
The purpose of this research is to collect biological samples (urine) to develop assays for immune biomarkers to possibly in the future be able to screen subjects with Fabry disease and be able to understand better progression of nephropathy in Fabry disease and predict nephropathy in Fabry disease.
A longitudinal pilot study will be conducted to determine if there are additional testing modalities that are effective in broadly phenotyping subclinical dysfunction in patients with Fabry disease. Individual patients will undergo serial testing over a two-year period to evaluate for changes in their cardiovasculaorenal function during this period. Novel modalities evaluated will include measures of arterial stiffness, ambulatory blood pressure monitoring, cardiopulmonary exercise testing (CPET), and novel serum and urine biomarkers. The benefit of these measures being evaluated is that they are noninvasive, can be performed rapidly, and have reduced costs compared to the current standard screening modalities. Results from these evaluations will be compared to cMRI and standard urine and serum biomarkers performed clinically per local standard of care. The results will also be compared to both published normative data and data from patients with diabetes mellitus, who have a similar microvascular disease process to patients with Fabry disease.
This is an 18-month, multicenter, randomized, active-control, parallel-group Phase 3 study, in which participants will be randomized to venglustat versus standard of care therapy (agalsidase alfa, agalsidase beta, or migalastat) to evaluate the effect of venglustat on left ventricular mass index (LVMI) in adult participants with Fabry disease and left ventricular hypertrophy. * Study visits will take place approximately every 3 to 6 months * Participants who complete the randomized period may continue to the long-term extension (LTE) to receive venglustat for up to additional 45 months with the total study duration up to 5.3 years maximum.
This is a 12-month, parallel treatment, Phase 3, double-blind, randomized, placebo controlled study to evaluate the effect of venglustat on neuropathic and abdominal pain symptoms of Fabry disease in participants ≥16 years of age with Fabry disease who are treatment-naïve or untreated for at least 6 months. * Study visits will take place approximately every 3 months. * The double-blind period will be followed by an open-label extension (OLE) during which participants who have completed the double-blind period will be treated with venglustat for up to an additional 12 months.
Pegunigalsidase alfa (PRX-102) is a long-term enzyme replacement therapy design for the treatment of patients with Fabry disease. Although in the clinical development program patient-reported outcomes and clinician-reported outcomes have been included, this may not allow for a sufficiently accurate assessment of the quality of life in patients with Fabry Disease treated with pegunigalsidase alfa. This study will collect the patient experience on the pegunigalsidase alfa treatment administered intravenously every 4 weeks in the BRIGHT-F51 clinical study (NCT03614234).
The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.
The objective of this treatment protocol is to provide guidance to Treating Physicians who seek access to pegunigalsidase alfa for Fabry patients whose clinical condition, in the opinion of the Treating Physician, requires treatment with enzyme replacement therapy (ERT) with pegunigalsidase alfa and a) cannot be adequately treated with currently approved FDA products and/or b) are not able or willing to participate in any of the on-going clinical trials in the United States.
This is a prospective multicenter, open-label, dose-escalation trial to assess the safety, tolerability, and pharmacodynamics of 4D-310 following a single IV administration. The study population is comprised of adult males and females with Fabry Disease.
This is an international, non-interventional research study of adult patients with Fabry Disease and their caregivers. The study comprised a prospective time and motion evaluation and a cross-sectional evaluation of patient and caregiver-reported outcomes. The study evaluated the time associated with the preparation and administration of a single dose of enzyme replacement therapy (ERT) in patients by health care providers as well as the impact on Fabry patients and caregivers time and costs associated with an ERT treatment. The study also evaluated the patients' quality of life wellbeing, fatigue and work productivity.
This is a global prospective observational study of women with Fabry disease and their infants during pregnancy and/or breastfeeding. The study will evaluate outcomes of pregnancy and/or breastfeeding in women and infants exposed to migalastat.
This is a long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects \> 12 Years of Age With Fabry Disease and Amenable GLA Variants
This is the first in human treatment with ST-920, a recombinant AAV2/6 vector encoding the cDNA for human a-Gal A. The purpose of this study is to evaluate the safety and tolerability of ascending doses of ST-920. ST-920 aims to provide stable, long-term production of α-Gal A at therapeutic levels in subjects with Fabry disease. The constant production of α-Gal A in humans should, importantly, enable reduction and potentially clearance of Fabry disease substrates Gb3 and lyso-Gb3. On Day 1, patients will be infused intravenously with a single dose of ST-920 and followed for a period of 52 weeks.