"Iron Overload and Endocrinological Diseases"

NCT06137079 | Unknown

• 1 other identifier: 24/13
• Study Type: observational
• Target: 62
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Iron Overload; Thalassemia Major; Thalassemia Intermedia; Hemochromatosis; Endocrinopathy

Outcome Measures

Primary Outcomes (1)

• Estimate prevalence of endocrine comorbidities of β-thalassemia in adulthood

  12 years

Secondary Outcomes (5)

• 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

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

• Subjects with an age \< 18 and \> 65 years

Sponsors & Collaborators

• Azienda Ospedaliero-Universitaria di Modena: lead

Study Sites (1)

Unit of Endocrinology of Azienza Ospedaliero-Universitaria di Modena

Modena, Italy

RECRUITING

MeSH Terms

Conditions

Iron Overload; beta-Thalassemia; Hemochromatosis; Endocrine System Diseases

Condition Hierarchy (Ancestors)

Iron Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Thalassemia; Anemia, Hemolytic, Congenital; Anemia, Hemolytic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Hemoglobinopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metal Metabolism, Inborn Errors; Metabolism, Inborn Errors

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: November 8, 2023
• First Posted: November 18, 2023
• Study Start: June 20, 2013
• Primary Completion: December 31, 2024
• Study Completion: December 31, 2025
• Last Updated: November 18, 2023

Record last verified: 2023-11

Locations

IT (1)