Clinical trial: Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study (NCT02263638)

Eligibility criteria:
Inclusion Criteria:

          -  Patients with age equal to or over 18 years old,

          -  Patients with proved hereditary hemochromatosis with homozygosity for the C282Y
             mutation of the HFE gene,

          -  Patients with rheumatism related to hemochromatosis, considered by the rheumatologist
             refractory to usual treatment defined by a persistent painful symptomatology despite a
             treatment of at least one month with level 2 analgesics (weak opioids) at maximal
             dose, NSAID, colchicine, steroid injection or a combination of these treatments,

          -  Patients with pain > 40/100mm measured by VAS (pain of the last 48 hours),

          -  Effective contraception to be used during treatment and until 48h after the last
             administration for women of reproductive age,

          -  Patients who have given written informed consent.

        Exclusion Criteria:

          -  Other cause of inflammatory rheumatisms such as Rheumatoid Arthritis,
             Spondyloarthropathies, psoriatic arthritis, or systemic diseases,

          -  Ongoing treatment with Methotrexate, Hydroxychloroquine, biologic or immunosuppressive
             drugs

          -  Malignant pathology, monoclonal gammopathy,

          -  Intolerance to anakinra,

          -  Contraindications to the use of anakinra: pregnancy or breastfeeding, hypersensitivity
             to any of the excipients or to proteins from E. coli, severe renal impairment
             (creatinine clearance <30 ml / minute), neutropenia (neutrophil count <1.5 x 109 / l),
             ongoing infection

          -  Patients that cannot follow the protocol,

          -  Persons subject to major legal protection (safeguarding justice, guardianship,
             trusteeship), persons deprived of liberty.
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.


Patient description (medical language): A 51-year-old man comes to the office complaining of fatigue and some sexual problems including lack of libido. The patient doesn't smoke or use any illicit drug.  Blood pressure is 120/80 mm Hg and pulse is 70/min.  Oxygen saturation is 99% on room air.  BMI is 24 kg/m2.  Skin examination shows increased pigmentation. Genotype testing is consistent with homozygosity for the C282Y mutation. Laboratory study shows transferrin saturation of 55% and serum ferritin of 550 μg/L. He is diagnosed as a case of hemochromatosis.

Patient description (patient's own words): I am 51 years old and I just came back from the doctor's office. I'm sick and tired of being that exhausted, reaching the point where me and my lovely wife are not touching each other anymore! I'm not smoking or doing drugs! My blood pressure was 120/80 mm Hg, and pulse was 70/min and my oxygen saturation 99%. My BMI is 24. My skin also turned a bit darker lately. He tested my genes and told me that I have a mutation of the C282Y gene. I also did lab tests where my transferrin saturation was 55% and serum ferritin was 550  μg/L. The doctor diagnosed me with iron overload.

Does the patient match the trial criteria? Contradiction