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Search / Trial NCT05659017

Candidate Gene for Hyperferritinemia

Launched by UNIVERSITY OF MILANO BICOCCA · Dec 12, 2022

Trial Information

Current as of July 09, 2025

Recruiting

Keywords

ClinConnect Summary

This clinical trial is studying a condition called hyperferritinemia, which means there is too much ferritin, a protein that stores iron, in the blood. Sometimes, high levels of ferritin don’t actually mean there’s too much iron in the body, and the causes can vary widely, including liver disease or inflammation. The researchers are specifically looking at a gene called STAB1 to see if mutations in this gene are linked to hyperferritinemia without excess iron. They hope to develop tests that can better identify this condition.

To participate in this trial, you need to be between 65 and 74 years old or between 29 and 219 years old, and you should have very high ferritin levels (over 1000 g/L for men and over 500 g/L for women) but low transferrin saturation (less than 45%), with no signs of iron overload in your liver. If you decide to join, you will undergo tests for glycosylated ferritin and the STAB1 protein, along with genetic testing. This research could help improve understanding and diagnosis of hyperferritinemia, leading to better management options for patients like you.

Gender

ALL

Eligibility criteria

  • Inclusion Criteria:
  • Among patients referred to the Center for Rare Diseases of Monza will be enrolled only subjects with:
  • ferritin \> 1000 g / L in men and \> 500 g / L,
  • transferrin saturation \<45%
  • absence of hepatic iron overload, evaluated by liver biopsy or MRI, as indicated in the attached flow chart.
  • Exclusion Criteria:
  • Patients with hyperferritinemia attributable to:
  • genetically determined causes \[mutations in the HFE gene (homozygosity or heterozygosity for p.Cys282Tyr, homozygosity for p.His63Asp or compound heterozygosity for variants of p.Cys282Tyr and p. His63Asp), ferroportin and L-Ferritin gene mutations\];
  • presence of more than one component of metabolic syndrome (according to NCEP-ATPIII criteria: triglycerides \>150 mg/dL, blood glucose \>100 mg/dL, HDL \<40 mg/dL in men and \<50 mg/dL in women, waist circumference \>102 cm in men and \>88 cm in women; blood pressure ≥130/≥85 mm/Hg);
  • alcohol intake \>5 g/day chronic hepatitis,
  • history of blood transfusion or parenteral iron treatment,
  • late skin porphyria,
  • hyperthyroidism,
  • presence of cataracts or family history of early-onset cataracts
  • acute or chronic inflammatory disorders.

About University Of Milano Bicocca

The University of Milano-Bicocca is a distinguished academic institution renowned for its commitment to advancing research and education in the biomedical sciences. With a strong emphasis on interdisciplinary collaboration, the university fosters innovative clinical trials that aim to enhance patient care and medical outcomes. Its research initiatives are supported by state-of-the-art facilities and a dedicated team of experts, positioning the University of Milano-Bicocca as a leading sponsor in the realm of clinical trials, dedicated to translating scientific discoveries into practical applications for the benefit of society.

Locations

Monza, Mb, Italy

Patients applied

0 patients applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

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