Fabry Disease

Fabry Disease from GARD

A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding

Evaluation of Phenotypic Variability in Fabry Disease

To Assess the Glycosphingolipid Clearance and Clinical Effects of Switching to Agalsidase Beta (Fabrazyme) Versus Continuing on Agalsidase Alfa (Replagal) in Male Patients With Classic Fabry Disease (BCLEAR1)

About Fabry Disease:

Other Names: Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; Alpha-galactosidase A deficiency; GLA deficiency; Angiokeratoma corporis diffusum; Ceramide trihexosidase deficiency

Categories: Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Kidney and Urinary Diseases; Metabolic disorders; Nervous System Diseases; RDCRN; Skin Diseases 

 
Patient organizations:

Alport Syndrome Foundation

  • XLAS (X-linked Alport syndrome)
  • ARAS (autosomal recessive Alport syndrome)
  • ADAS (autosomal dominant Alport syndrome)
  • Treatment Recommendations 
  • Clinical Trials                                                                                                                          CARDINAL STUDY Conducted by Reata Pharmaceuticals Fully enrolled; recruitment for Phase 3 closed Fall 2018 (Released Data)                                  HERA PHASE 2 STUDY (CONTINUED) Conducted by Sanofi-Genzyme Currently Enrolling

The Genome Medical care team features top genetic experts and primary care MDs – all dedicated to helping accelerate the integration of genetics into everyday health care

About Fabry Disease
About Clinical Trial
  • Migalastat Monotherapy: Phase 3 Long-term Safety Study 042 (At1001-042 Study) NCT02194985

  • Migalastat Monotherapy: Active, Not Recruiting Study 020 (AT1001-020 Study) NCT03500094

  • Migalastat Monotherapy: Currently Enrolling Study 036 (AT1001-036 Study) NCT04049760

  • Migalastat Monotherapy: A Prospective, Observational Registry of Patients with Fabry Disease (AT1001-030) EUPAS20599

Sanofi Genzyme on Fabry Disease

 

Genzyme  Clinical Trial on Rare diseases

  • Venglustat
    Fabry disease                                                                                                                      

Pipeline

on Rare Disease

Fabry Disease in China

法布雷病是由X连锁基因缺陷造成的一种先天性代谢疾病,表现为患者体内α-半乳糖苷酶A活性明显降低或缺失,导致鞘糖脂在多种组织细胞的溶酶体中病理性蓄积。该病始发于胎儿并伴随患者终身逐步恶化,引起心、肾等重要器官的衰竭。2018年该病被收录于国家第一批罕见病目录,属严重危及生命且国内尚无有效治疗手段的疾病。

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