Clinical trial NCT06137079: "Iron Overload and Endocrinological Diseases"
Official title: "Iron Overload and Endocrinological Diseases"
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Iron Overload
Thalassemia Major
Thalassemia Intermedia
Hemochromatosis
Endocrinopathy
Lead sponsor: Azienda Ospedaliero-Universitaria di Modena
Sponsor class: OTHER
First posted: 2023-11-18
Enrollment: 62
Sex: ALL
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.


Eligibility criteria: 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

Primary outcomes:
measure: Estimate prevalence of endocrine comorbidities of β-thalassemia in adulthood
timeFrame: 12 years
Secondary outcomes:
measure: Evaluate prevalence of endocrine diseases to characterize the type and the degree of endocrine deficiencies
timeFrame: 12 years
measure: Evaluate incidence of endocrine diseases to characterize the type and the degree of endocrine deficiencies
timeFrame: 12 years
measure: To investigate the relationships among iron status and endocrine alterations in these group of patients
timeFrame: 12 years
measure: To investigate the relationships among iron status and cardiac disease in these group of patients
timeFrame: 12 years
measure: To investigate the relationships among iron status and liver disease in these group of patients
timeFrame: 12 years
Other outcomes:
Locations:
city: Modena
country: Italy
facility: Unit of Endocrinology of Azienza Ospedaliero-Universitaria di Modena
Study officials:
References: