Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda

This is an interventional treatment trial for Porphyria Cutanea Tarda focused on measuring PCT sporadic or familial, Skin fragility and bullae lesions, non-transfusion iron overload Read More

Inclusion Criteria:

• Male and female diagnosed with clinically overt Porphyria Cutanea Tarda, sporadic or familial as per the European Porphyria Network guidelines i.e. increased urinary and plasma porphyrins and faecal isocoproporphyrin detected by fluorescence emission spectroscopy,

  • Skin fragility and bullae lesions,
  • Age ≥ 18 years old,
  • non-transfusion iron overload as depicted by a serum ferritin value ≥ 300 μg/L for men and ≥ 200 μg/L for women, and/or LIC ≥ 2 mg Fe/g dw for both men and women and with transferrin saturation ≥ 45%,
  • Adequate liver function i.e. ALAT/ASAT and Alkaline Phosphatase ? 2.5 times ULN, bilirubin < 1.5 times ULN,
  • Signed informed consent prior to beginning the specific procedures of the protocol,
  • Ability to comply with all study-related procedures, medications, and evaluations,
  • Sexually active women must use an effective method of contraception, or must have undergone clinically documented total hysterectomy and/or oophorectomy, or tubal ligation or be postmenopausal (defined as amenorrhea for at least 12 months). Since hormonal therapy may cause PCT, oral contraceptives will not be started during the course of the study and patients already on oral contraceptives will be advised to speak to their physician about discontinuing them and will not be enrolled in the study.

Exclusion Criteria:

• Clinical evidence of active Hepatitis B (positive HBsAg with negative HBsAb) and/or hepatitis C (positive HCV antibody and detectable HCV RNA with ALT above the normal range)

  • Patients with on going alcoholic dependency > 60g/day
  • Serum creatinine above the ULN
  • Creatinine clearance < 60 ml/min, estimated according to Cockcroft-Gault formula or MDRD formula for adults
  • Significant proteinuria as indicated by a urine protein: urine creatinine ratio > 0.5 mg/mg in a non-first void urine sample.
  • Diabetes
  • Iron overload due to hereditary hemochromatosis
  • History of blood transfusion during the 6 months prior to study entry,
  • Males with hemoglobin <13 mg/dL, females with hemoglobin <12 mg/dL
  • Active peptic ulcus
  • Treatment with phlebotomy within 2 weeks of screening visit
  • Prior Desferal® treatment within 1 month of the screening visit
  • Patients currently or previously treated with deferiprone or deferasirox
  • Patients with a diagnosis of a clinically relevant cataract or a previous history of clinically relevant ocular toxicity related to iron chelation
  • Patient with clinically significant decrease of hearing
  • Pregnant or lactating women or women of childbearing potential not using adequate contraception (pregnancy test mandatory and negative for patient with childbearing potential)
  • Known hypersensitivity to the active ingredient of deferasirox or any excipients
  • Contraindication to the administration of deferasirox as outlined in the approved prescribing information.
  • Presence of a surgical or medical condition that might significantly alter the absorption, distribution, metabolism or excretion of deferasirox
  • Presence of a non-controlled severe disease affected vital organs as cardiac and/or pulmonary disease
  • Patients with a known diagnosis of cirrhosis (confirmed by biopsy)
  • Patients with active inflammatory diseases that may interfere with the accurate measurement of serum ferritin
  • Patients treated with systemic investigational drug within 4 weeks prior or with topical investigational drug within 7 days prior to the screening visit