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