Posts Tagged ‘Orphan Disease’

Enzyme replacement therapy (ERT) is the standard treatment for a number of lysosomal storage disorders (LSDs). However, this treatment is a lifelong therapy with side effects and complications that can decrease its effectiveness. More importantly these replacement proteins cannot cross the blood brain barrier, thus making them ineffective for over ...

Phelin-McDermid Syndrome (PMS) is a rare genetic syndrome, with a wide range of severity of symptoms, including intellectual disabilities, sleep disorders, and seizures, as well as motor and vocalization symptoms. PMS is caused by disruption of the SHANK3/ProSAP2 gene on the terminal of chromosome 22. Approximately 600 cases are known ...

Intrahepatic cholangiocarcinoma (ICC) is an aggressive malignancy with very poor prognosis. Surgical resection is the only potentially curative therapy for ICC patients, but most of them are diagnosed at advanced stage, when only palliative chemotherapy is available. Furthermore, even when curative resection is feasible, intrahepatic recurrence is highly frequent, worsening ...