| Gaucher disease |
Miglustat |
Substrate reduction therapy |
Osmotic diarrhea and weight loss
observed in the majority of patients. Peripheral neuropathy and
tremor may occur |
Reduction of glycosphingolipids,
improvement in anemia and thrombocytopenia. Less effective, in
general when compared to ERT and eliglustat |
|
Eliglustat |
Substrate reduction therapy |
Headache, arthralgia, nasopharyngitis,
upper respiratory infection, diarrhea and dizziness were
reported. Caution recommended in patients with concomitant use
of drugs that affect CYP2D6 and/or CYP3A substrate
metabolism |
Reduction of glycosphingolipids.
Improvements in platelet and hemoglobin levels, spleen and liver
volumes and bone outcomes. No therapeutic effect in CYP2D6
ultra-rapid metabolizers |
| Fabry disease |
Migalastat |
Chaperone |
Nasopharyngitis and headache were
frequently reported |
Decreased left ventricular mass index;
reduction in the incidence of renal, cardiac or cerebrovascular
events. Efficacy is restricted to patients with amenable
mutations |
| Niemann- Pick type C |
Miglustat |
Substrate reduction therapy |
Osmotic diarrhea and weight loss
observed in the majority of the patients. Peripheral neuropathy
and tremor may occur |
Improvement in horizontal saccadic eye
movement velocity and stabilization of ambulation, manipulation,
language and swallowing scores |
| Cystinosis |
Cysteamine |
Substrate reduction therapy |
Angioendotheliomatosis, unpleasant
sulfurous body and breath odor, allergic rash, hyperthermia,
lethargy, neutropenia, seizures and gastrointestinal discomfort
were reported |
Decreases extrarenal complications,
delays end-stage renal disease onset, improves survival |
