"Iron Overload and Endocrinological Diseases"

Patients with hemochromatosis or Thalassemia develop progressive tissue and organs damages secondary to iron overload. Iron overload can result both from transfusional hemosiderosis and excess gastrointestinal iron absorption. Iron deposition in the heart, liver, and multiple endocrine glands results in severe damage to these organs, with variable degrees of endocrine and organ failure.

Although patients with iron overload often present endocrine disorders, the pathogenetic mechanisms underlying endocrinopathies are not completely clear. In particular it is not elucidated if the spectrum of endocrinopathies could change with advancing age. All endocrinological comorbidities can develop from a primary damage of the target gland, from pituitary secondary failure or from both.

The aim of this study is to investigate the prevalence of endocrinological diseases in adult patients with iron overload due to β-thalassemia or hemochromatosis and their impact on well-being and quality of life.

The study design is a prospective cross-sectional clinical study. All subjects enrolled will be evaluated for the endocrine diseases. The study protocol will include data collection from family and patients' history of diseases, physical examination, hormonal assessment for all endocrine axes and instrumental examinations.

The results will provide evidence on the prevalence of endocrine diseases in patients with iron overload and will add information to characterize the type and the degree of endocrine deficiencies, and on the pathogenic mechanisms involved, in order to individualize diagnostic and therapeutic approaches.

Study Overview

• Status: Recruiting
• Conditions: Iron Overload; Hemochromatosis; Thalassemia Major; Thalassemia Intermedia; Endocrinopathy

• Study Type: Observational
• Enrollment (Estimated): 62

Contacts and Locations

Study Locations

• Italy
  • Modena, Italy
    • Recruiting
    • Unit of Endocrinology of Azienza Ospedaliero-Universitaria di Modena
    • Contact: Vincenzo Rochira, Professor; Phone Number: +390593962453; Email: vincenzo.rochira@unimore.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Adult patients with a confirmed diagnosis of β-thalassemia (major or intermedia) or with a diagnosis of hemochromatosis enrolled at the "Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria di Modena Policlinico di Modena, Ospedale Civile di Baggiovara, Modena, Italy".

Since thalassemia is a rare pathology and considering that the involvement of the endocrine glands in thalassemic patients is extremely common (it is expected to find at least one impaired endocrinological axis in each patient), the number of patients the investigators will enroll is appropriate to make an estimation of the prevalence of endocrine deficiency. Patients will be considered eligible according to the inclusion and exclusion criteria, independently from the presence/absence of known endocrine diseases and after providing their informed signed consent.

Description

Inclusion Criteria:

• Certain diagnosis of β-thalassemia major or intermedia
• Certain diagnosis of Hereditary Hemochromatosis
• Adult patients with an age between 18 and 65 years

Exclusion Criteria:

• Subjects with an age < 18 and > 65 years

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Estimate prevalence of endocrine comorbidities of β-thalassemia in adulthood	12 years

Secondary Outcome Measures

Outcome Measure	Time Frame
Evaluate prevalence of endocrine diseases to characterize the type and the degree of endocrine deficiencies	12 years
Evaluate incidence of endocrine diseases to characterize the type and the degree of endocrine deficiencies	12 years
To investigate the relationships among iron status and endocrine alterations in these group of patients	12 years
To investigate the relationships among iron status and cardiac disease in these group of patients	12 years
To investigate the relationships among iron status and liver disease in these group of patients	12 years

Collaborators and Investigators

• Sponsor: Azienda Ospedaliero-Universitaria di Modena

Study record dates

Study Major Dates

• Study Start: June 20, 2013
• Primary Completion (Estimated): December 31, 2024
• Study Completion (Estimated): December 31, 2025

Study Registration Dates

• First Submitted: November 8, 2023
• First Submitted That Met QC Criteria: November 13, 2023
• First Posted (Estimated): November 17, 2023

Study Record Updates

• Last Update Posted (Estimated): November 17, 2023
• Last Update Submitted That Met QC Criteria: November 13, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Hematologic Diseases; Genetic Diseases, Inborn; Anemia; Iron Metabolism Disorders; Metabolism, Inborn Errors; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Hemoglobinopathies; Metal Metabolism, Inborn Errors; Iron Overload; Thalassemia; beta-Thalassemia; Hemochromatosis; Hemosiderosis
• Other Study ID Numbers: 24/13

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No