Investigating genetic factors in high ferritin levels

Study to Identify a Genetic Defect in Subjects With Hyperferritinemia.

This study is trying to find out if certain genes are linked to high ferritin levels in people who have hyperferritinemia.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: 18 Years to 80 Years
• Sex: All
• Sponsor: University of Milano Bicocca (Academic / other)
• Locations: 1 site (Monza, MB)
• Trial ID: NCT05659017 on ClinicalTrials.gov

What this trial studies

This observational study focuses on patients with hyperferritinemia, characterized by elevated serum ferritin levels. It aims to identify genetic factors contributing to this condition by analyzing patients referred to the Center for Rare Diseases of Monza. Eligible participants must have specific ferritin levels and meet criteria excluding other causes of hyperferritinemia. The study will utilize genetic analysis to explore the underlying causes of increased ferritin levels in these patients.

Who should consider this trial

Good fit: Ideal candidates are individuals with ferritin levels above 1000 g/L for men and above 500 g/L for women, without hepatic iron overload.

Not a fit: Patients with hyperferritinemia due to genetically determined causes or those with metabolic syndrome components may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better understanding and management of hyperferritinemia, improving patient outcomes.

How similar studies have performed: While the study explores genetic factors in hyperferritinemia, similar studies have shown promise in understanding iron metabolism disorders.

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.

Where this trial is running

Monza, MB

• Centre for Rare Disease - Disorders of Iron Metabolism, ASST-Monza, San Gerardo Hospital, European Reference Network - EuroBloodNet — Monza, Mb, Italy (Recruiting)

Study contacts

• Study coordinator: Raffaella Mariani, Dr.ssa

Conditions Hyperferritinemia