Clinical Research Directory

A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease

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 an additional 12 months or until the Common Study End of Treatment Day (CSEOTD).

Agalsidase Beta Long-Term Treatment Outcome for Fabry Disease Patients With IVS4 Mutation in Taiwan

This is a national, multicenter, observational, cohort study designed to assess clinical outcomes upon agalsidase beta treatment, to characterize the clinical manifestations, and to collect the natural history on male and female Fabry disease adult patients who carry the GLA IVS4. This study aims to retrospectively and prospectively investigate the disease natural history, clinical manifestations, and the treatment outcomes upon agalsidase beta in Fabry disease (FD) patients carrying the GLA IVS4 mutation from medical records, physician assessments, and patient-reported outcomes.

Safety, PK/PD, and Exploratory Efficacy Study of AMT-191 in Classic Fabry Disease

The main goals of this clinical study are to characterize safety and PK/PD of AMT-191 i.e. if drug doses used in the study are safe and tolerable and to understand how it acts in the body of people with Fabry disease.

Anderson-Fabry Disease Fitness Improvement Training

This study will evaluate physical function, cardiorespiratory fitness, muscle strength, and quality of life in patients with Fabry disease and assess the effects of a 12-week physiotherapy-led exercise programme. Participants will be non-randomly assigned to an exercise intervention group or a control group receiving no study-specific exercise intervention. The intervention group will be assessed at baseline, immediately after the 12-week intervention, and 12 months after baseline. The control group will be assessed at baseline and 12 months after baseline.

A Study of Patients With Fabry Disease (US Specific)

This is an observational study to evaluate the effects of treatment on long-term effectiveness, safety, and health-related quality of life (HRQOL) in patients with Fabry disease, with a main focus on migalastat.

A Study of Replagal in Children and Adults With Fabry Disease in India

The main aim of this study is to learn more about the safety profile of Replagal. Participants will receive Replagal every 2 weeks at the clinic for about 1 year.

A Fabry Disease Gene Therapy Study

This is a multinational, open-label study to assess the safety and efficacy of FLT190 in up to 15 adult male participants with classical Fabry disease.

RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)

Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin. Rare Cerebrovascular Diseases (rCVDs), including heritable (i.e., CADASIL, COL4A1 syndrome, Fabry disease) and acquired conditions (i.e., Sneddon syndrome, Moyamoya arteriopathy) account for a proportion of these strokes. However, rCVDs are often misdiagnosed since clinicians are not able to recognize them. Although rare, the identification of these stroke causes is important to establish appropriate management measures, including genetic counselling, and, if available, therapy. The lack of data on phenotype and clinical course of rCVDs, given the paucity of published series, makes the diagnosis and the development of therapies challenging. Furthermore, the molecular characterization of rCVDs is still lacking, despite progresses achieved in common stroke by applying high throughput approaches as multi-omics. Since the diagnosis and care of rCVDs require adequate expertise and instrumental tools, clinical and research activities are usually reserved to few specialized centers, mostly located in the North of Italy, leading patients to expensive trips for consultations. Therefore, the creation of a clinical and research network aimed at improving the diagnostic pathways of rCVDs is highly needed to improve the number of patients with rCVDs to better define the clinical phenotype and to transfer the knowledge on rCVDs in other centers overall Italy filling the geographical gap affecting Southern Italy.

A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants

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.

A Study to Evaluate the Long-term Safety and Tolerability of Lucerastat in Adult Subjects With Fabry Disease

A study to determine the long-term safety and tolerability of oral lucerastat in adult subjects with Fabry disease. This study includes a sub-study evaluating kidney Gb3 inclusions (and other histologic lesions) in male participants with classic Fabry disease who have been treated for at least 2 years with lucerastat monotherapy in study ID-069A302.

Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)

Fabry disease is a rare, inherited condition that can affect multiple organs, including the heart, kidneys, and nervous system. Many people with Fabry disease live for a period of time without receiving disease-specific treatment, for example because treatment criteria have not yet been met. There is limited knowledge about how patients experience this period without treatment. The purpose of this study is to improve understanding of how adults with Fabry disease who are not yet receiving disease-specific treatment experience their quality of life, their daily lives, and their contacts with health care services. This is a national interview study in which participants will take part in one individual digital interview lasting approximately 45-60 minutes. During the interview, participants will be invited to describe their experiences in their own words, including symptoms, how the disease affects everyday life, psychological and emotional well-being, and experiences of follow-up and support from health care providers. Participants will also complete a short questionnaire with basic background information, such as age, education, and living situation. By collecting and analyzing patients' own narratives, the study aims to identify needs, challenges, and support resources during the period without treatment. The results are expected to contribute to increased knowledge and to the development of more person-centered care for individuals living with Fabry disease.

A Study to Learn How Well Lucerastat Works and How Safe it is in Untreated Adult Male Participants With Fabry Disease

The purpose of this clinical trial is to learn how well lucerastat works and how safe it is in untreated adult male participants with Fabry disease. The main question this clinical trial aims to answer is: • Does treatment with lucerastat affects the amount of globotriaosylceramide (Gb3), a fatty substance that builds up in the kidneys, in untreated adult men with Fabry disease? This is an open-label, single-arm trial, which means that participants will know which trial medication they receive and only one trial medication will be given. Trial participants will: * Take lucerastat every day for 18 months * Have kidney biopsies at the end and start of the trial * Visit the clinic 10 times for check-up and tests * Take part in the trial for up to 21 months in total

Long-Term Follow-up of Subjects Who Were Treated With ST-920

Long-term follow-up of subjects who received ST-920 in a previous trial (ST-920-201) and completed at least 52 weeks post-infusion follow-up in their primary protocol. Enrolled subjects will be followed for a total of up to 5 years following ST-920 infusion.

Natural History and Structural Functional Relationships in Fabry Renal Disease Treatment Outcomes(Changes)in Fabry Renal Disease Study

The investigators will perform a study with two major components. The first is a natural history study of untreated Fabry patients. This study component will detail kidney microscopic structural changes in Fabry patients before starting enzyme replacement therapy and will correlate these changes with kidney function, including glomerular filtration rate and urinary albumin excretion rate. The investigators will perform studies on samples obtained at baseline, or before enzyme replacement therapy is initiated. The goal of our study is to find kidney microscopic changes in the biopsies that are associated with kidney disfunction. Our hypotheses for this study are: 1. Much of the natural history of Fabry renal structural changes will occur without detectable renal functional alterations. 2. Structural changes associated with the initial onset of proteinuria and those associated with the subsequent progressive loss of filtration function will differ and will be best described by non-linear models. 3. There will be sufficient precision of Fabry renal structural-functional relationships to support renal structure as an acceptable clinical trial surrogate endpoint for later renal functional deterioration. The second component examines the effects of age and gender at start of enzyme replacement therapy (ERT), as well as dosage levels of ERT on the renal cellular clearance of GL3 from Fabry patients by comparing baseline to follow-up kidney biopsies performed 5, 11, and 60 months later, with all comparisons matched for ERT treatment duration. Our hypotheses for this component of the study are as follows: 1. Enzyme Replacement Therapy(ERT) instituted at younger ages is more effective in reducing podocytes(PC),distal tubular cells(DTC),and arterial smooth muscle cells (ASMC)GL-3 than in older Fabry patients. 2. Earlier institution of ERT will stabilize PC numbers while later ERT institution, especially in proteinuric adults, may not prevent progressive decline in PC numbers and associated glomerular sclerosis, tubulointerstitial injury, and GFR loss. 3. Whereas lower ERT dose may effectively clear GL-3 from endothelial and mesangial cells, it will be less effective in clearing GL-3 from PC and also from DTC and ASMC. 4. Affected cells will be cleared of GL-3 equivalently in females and males.

A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease

A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease.

ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in a large newborn population, and 3) assess the impact of early diagnosis on health outcomes. Over a nine-year period, ScreenPlus aims to screen 100,000 infants born in eight high birthrate hospitals in New York for a flexible panel of rare genetic disorders. This study will also evaluate the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.

Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting

PEGASO is an observational study designed to collect prospective data on the effectiveness and safety of pegunigalsidase alfa in adult patients with Fabry disease, being treated or planning to start treatment, under real-world setting.

A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease

An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects with Fabry Disease and Amenable GLA Variants and Severe Renal Impairment (SRI) or End Stage Renal Disease (ESRD)

Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)

This study aims to evaluate the burden and phenotypic spectrum of periodontal disease in patients with rare kidney disorders (such as Alport syndrome, Fabry disease, and tuberous sclerosis complex) and systemic lupus erythematosus (SLE), compared with chronic kidney disease (CKD) controls and population controls. This is a cross-sectional, case-control observational study. Participants will undergo a single structured evaluation including a full-mouth periodontal examination, a clinical questionnaire, and collection of relevant clinical and nephrological data. The primary objective is to compare the prevalence of periodontitis across study groups. Secondary objectives include characterization of periodontal disease severity, prevalence of gingivitis and xerostomia, and identification of disease-specific oral phenotypes. Exploratory analyses will assess associations between periodontal disease and clinical variables such as kidney function, proteinuria, and immunosuppressive exposure.

A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants 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.

Fabry Disease Registry & Pregnancy Sub-registry

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.

Study of the Spermatic Characteristics of Patients With Fabry Disease

The objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.The main objective of this project is to estimate the prevalence of spermatic abnormalities in patients with Fabry disease.

T1 Mapping in Fabry Disease

Fabry disease (OMIM-301500, FD) is a lysosomal storage disease with X-linked inheritance secondary to mutations in the α-galactosidase A gene (GLA), which cause absence or decreased activity of the lysosomal hydrolase a-galactosidase A (a-gal A). The accumulation of globotriaosylceramide (Gb3) leads to multiple organs dysfunction, especially in three key organs: kidney, heart and cerebrovascular system. Progressive nephropathy is one of the main features of Fabry disease and is marked by an insidious development. The investigators are facing different current challenges about treatment initiation in non-classic phenotype patients, optimal dose after treatment initiation, and treatments monitoring in Fabry nephropathy. That is even more important that the enzyme replacement therapy is expensive and a lifelong commitment. Functional magnetic resonance imaging (MRI) is now able to provide T1 mapping sequence. In Fabry disease, T1 mapping is currently used to assess the degree of myocardial involvement. The MRI for assessement of Fabry Cardiomyopathy is now recommended by the 2022 national diagnostic and care protocol (PNDS) in France. However there is no data about T1 mapping values in kidney in Fabry's disease The main Objective is to describe renal performance through multi-parametric MRI in Fabry nephropathy and the primary outcome will be the quantification of renal T1 in Fabry patients.

Open Label Extension of 2 mg/kg Pegunigalsidase Alfa (PRX-102) Every 4 Weeks in Adult Fabry Disease Patients

The objective of CLI-06657AA1-03 (formerly PB-102-F51) is to evaluate the long-term safety, tolerability, and efficacy of 2 mg/kg pegunigalsidase alfa administered intravenously every four weeks in adult Fabry patients who have successfully completed PB-102-F50.