The primary goal of this study is to assess safety and tolerability of bitopertin in subjects with Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP) and evidence of compensated liver disease.
This in an open-label, investigator-initiated study of bitopertin (60 mg/day) in selected and carefully monitored participants with Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP) who have increased liver stiffness and/or elevated liver enzymes at baseline.This study is designed to evaluate whether bitopertin is effective in reducing hepatic and biliary levels of protoporphyrin IX (PP), which over time, with chronic and ongoing bitopertin treatment, will ameliorate and forestall progression of PP hepatopathy, providing an additional major benefit and reason for its chronic use in patients with EPP/XLP.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
bitopertin 60 mg will be taken once daily by mouth
Number of treatment emergent adverse events (TEAE)
Number of treatment emergent adverse events (TEAE). Adverse events that begin after the first administration of study drug, or existing adverse events that worsen after the first dose of study drug will be considered TEAEs.
Time frame: Week 104
Percent Change in Protoporphyrin IX (PP) Serum Levels
To assess effects of bitopertin on levels of protoporphyrin IX (PP) and other porphyrins in the whole blood, plasma, and red blood cells
Time frame: baseline to month 12, month 12 to month 24
Number of Participants with Change in Histopathology
To assess effects of bitopertin on hepatic histopathology the number of participants with change in histopathologic evidence will be tracked. Histopathology consists of histopathologic evidence of hepatic fibrosis, necroinflammation, fat, cholestasis, bile plugs, birefringent brown deposits in the liver, or other histopathology, as estimated by an experienced hepato-pathologist.
Time frame: baseline to month 24
Percent Change in Protoporphyrin IX (PP) Bile Levels
the percent change of Protoporphyrin IX (PP) in bile will be used to assess effects of bitopertin on PP levels
Time frame: baseline to month 24
Percent Change in Protoporphyrin IX (PP) Liver Levels
the percent change in Protoporphyrin IX (PP) in the liver will be measured by change in liver stiffness measured by vibration controlled elastography with use of dedicated instruments designed for this purpose (Fibroscan, Velocur)
Time frame: baseline to month 12, baseline to month 24
Percent Change in Protoporphyrin IX (PP) Stool Levels
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
the percent change in Protoporphyrin IX (PP) in stool will be used to assess effects of bitopertin on PP levels
Time frame: baseline to month 24