Alport Syndrome

Alport Syndrome from GARD

study of sar339375 in patients with alport syndrome (hera)

An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE) (EAGLE)

About Alport Syndrome:
Patient organizations:
  1. Organizations supporting this disease                                                                               Alport Syndrome Foundation
    E-mail: info@alportsyndrome.org
    Website: http://www.alportsyndrome.org
  2. Organizations providing general support                                                                            American Association of Kidney Patient                                                                              E-mail: info@aakp.org                                                                                                        Website: http://www.aakp.org

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

Sanofi Genzyme on Alport Syndrome and others

Genzyme Clinical Trial on Rare diseases

  • SAR339375
    Alport Syndrome
  • Venglustat
    Fabry disease
  • Venglustat
    Autosomal Dominant Polycystic Kidney Disease (ADPKD

on Rare Disease

Regulus about Alport Syndrome

Alport Syndrome in China

Alport 综合征(Alport syndrome)中文名称:遗传性进行性肾炎,由于IV型胶原基因突变所致,遗传方式包括X连锁遗传(约占80%)、常染色体隐性遗传(约15%)和常染色体显性遗传(极为罕见)。发病率约1-9/100000。临床特点是血尿、蛋白尿及进行性肾功能减退,部分患者可合并感音神经性耳聋、眼部异常、食管平滑肌瘤等肾外表现。X连锁型男性和常染色体隐性遗传型Alport综合征患者往往在青壮年进入尿毒症期。目前还没有根治办法。现阶段采取的是对症治疗,利用ACEI和ARB降压药物减少蛋白从尿液中排出,达到减少尿蛋白、延缓肾功能的目的。


中国Alport综合征家长协会(注册名称:赤峰福惠达罕见病关爱中心)成立于:2014年3月,由患者家属自发创建,旨在普及Alport综合征知识、关爱患者及家人,倡导政策出台等公益性工作等。

 

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