## Protocol Section
### Identification Module
**NCT ID:** NCT06137079

**Brief Title:** "Iron Overload and Endocrinological Diseases"

**Official Title:** "Iron Overload and Endocrinological Diseases"

#### Organization Study ID Info
**ID:** 24/13
#### Organization
**Class:** OTHER
**Full Name:** Azienda Ospedaliero-Universitaria di Modena
### Status Module
#### Completion Date
**Date:** 2025-12-31

**Type:** ESTIMATED

#### Expanded Access Info
#### Last Update Post Date
**Date:** 2023-11-18

**Type:** ACTUAL

**Last Update Submit Date:** 2023-11-13

**Overall Status:** RECRUITING

#### Primary Completion Date
**Date:** 2024-12-31

**Type:** ESTIMATED

#### Start Date
**Date:** 2013-06-20

**Status Verified Date:** 2023-11

#### Study First Post Date
**Date:** 2023-11-18
**Type:** ACTUAL
**Study First Submit Date:** 2023-11-08
**Study First Submit QC Date:** 2023-11-13
### Sponsor Collaborators Module

#### Lead Sponsor

**Class:** OTHER

**Name:** Azienda Ospedaliero-Universitaria di Modena

#### Responsible Party

**Investigator Affiliation:** Azienda Ospedaliero-Universitaria di Modena

**Investigator Full Name:** Vincenzo Rochira

**Investigator Title:** Professor

**Type:** PRINCIPAL_INVESTIGATOR

### Oversight Module

**Is FDA Regulated Device:** False

**Is FDA Regulated Drug:** False

### Description Module

**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 Module

**Conditions:**

- Iron Overload

- Thalassemia Major

- Thalassemia Intermedia

- Hemochromatosis

- Endocrinopathy

### Design Module

#### Design Info

**Observational Model:** COHORT

**Time Perspective:** PROSPECTIVE

#### Enrollment Info

**Count:** 62

**Type:** ESTIMATED

**Study Type:** OBSERVATIONAL

### Outcomes Module

#### Primary Outcomes

**Measure:** Estimate prevalence of endocrine comorbidities of β-thalassemia in adulthood

**Time Frame:** 12 years

#### Secondary Outcomes

**Measure:** Evaluate prevalence of endocrine diseases to characterize the type and the degree of endocrine deficiencies

**Time Frame:** 12 years

**Measure:** Evaluate incidence of endocrine diseases to characterize the type and the degree of endocrine deficiencies

**Time Frame:** 12 years

**Measure:** To investigate the relationships among iron status and endocrine alterations in these group of patients

**Time Frame:** 12 years

**Measure:** To investigate the relationships among iron status and cardiac disease in these group of patients

**Time Frame:** 12 years

**Measure:** To investigate the relationships among iron status and liver disease in these group of patients

**Time Frame:** 12 years

### Eligibility Module

**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

**Maximum Age:** 65 Years

**Minimum Age:** 18 Years

**Sampling Method:** NON_PROBABILITY_SAMPLE

**Sex:** ALL

**Standard Ages:**

- ADULT

- OLDER_ADULT

**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.

### Contacts Locations Module

#### Locations

**Location 1:**

**City:** Modena

**Contacts:**

***Contact 1:***

- **Email:** vincenzo.rochira@unimore.it

- **Name:** Vincenzo Rochira, Professor

- **Phone:** +390593962453

- **Role:** CONTACT

**Country:** Italy

**Facility:** Unit of Endocrinology of Azienza Ospedaliero-Universitaria di Modena

**Status:** RECRUITING

## Derived Section

### Condition Browse Module - Ancestors

- ID: D000000745

- Term: Anemia, Hemolytic, Congenital

- ID: D000000743

- Term: Anemia, Hemolytic

- ID: D000000740

- Term: Anemia

- ID: D000006402

- Term: Hematologic Diseases

- ID: D000006453

- Term: Hemoglobinopathies

- ID: D000030342

- Term: Genetic Diseases, Inborn

- ID: D000019189

- Term: Iron Metabolism Disorders

- ID: D000008659

- Term: Metabolic Diseases

- ID: D000008664

- Term: Metal Metabolism, Inborn Errors

- ID: D000008661

- Term: Metabolism, Inborn Errors

### Condition Browse Module - Browse Branches

- Abbrev: BC15

- Name: Blood and Lymph Conditions

- Abbrev: BC16

- Name: Diseases and Abnormalities at or Before Birth

- Abbrev: All

- Name: All Conditions

- Abbrev: BC18

- Name: Nutritional and Metabolic Diseases

- Abbrev: BC19

- Name: Gland and Hormone Related Diseases

- Abbrev: BC23

- Name: Symptoms and General Pathology

- Abbrev: Rare

- Name: Rare Diseases

### Condition Browse Module - Browse Leaves

- ID: M16557

- Name: Thalassemia

- Relevance: HIGH

- As Found: Thalassemia

- ID: M19408

- Name: beta-Thalassemia

- Relevance: HIGH

- As Found: Thalassemia Intermedia

- ID: M21178

- Name: Iron Overload

- Relevance: HIGH

- As Found: Iron Overload

- ID: M7862

- Name: Endocrine System Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M9518

- Name: Hemochromatosis

- Relevance: HIGH

- As Found: Hemochromatosis

- ID: M9572

- Name: Hemosiderosis

- Relevance: HIGH

- As Found: Hemochromatosis

- ID: M4070

- Name: Anemia

- Relevance: LOW

- As Found: Unknown

- ID: M9547

- Name: Hemolysis

- Relevance: LOW

- As Found: Unknown

- ID: M4073

- Name: Anemia, Hemolytic

- Relevance: LOW

- As Found: Unknown

- ID: M4075

- Name: Anemia, Hemolytic, Congenital

- Relevance: LOW

- As Found: Unknown

- ID: M9490

- Name: Hematologic Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M9539

- Name: Hemoglobinopathies

- Relevance: LOW

- As Found: Unknown

- ID: M23686

- Name: Genetic Diseases, Inborn

- Relevance: LOW

- As Found: Unknown

- ID: M11639

- Name: Metabolic Diseases

- Relevance: LOW

- As Found: Unknown

- ID: M21177

- Name: Iron Metabolism Disorders

- Relevance: LOW

- As Found: Unknown

- ID: M11641

- Name: Metabolism, Inborn Errors

- Relevance: LOW

- As Found: Unknown

- ID: M11644

- Name: Metal Metabolism, Inborn Errors

- Relevance: LOW

- As Found: Unknown

- ID: T5622

- Name: Thalassemia

- Relevance: HIGH

- As Found: Thalassemia

- ID: T737

- Name: Beta-thalassemia

- Relevance: HIGH

- As Found: Thalassemia Intermedia

- ID: T2699

- Name: Hemochromatosis Type 3

- Relevance: HIGH

- As Found: Hemochromatosis

- ID: T2716

- Name: Hemosiderosis

- Relevance: HIGH

- As Found: Hemochromatosis

### Condition Browse Module - Meshes

- ID: D000013789

- Term: Thalassemia

- ID: D000017086

- Term: beta-Thalassemia

- ID: D000006432

- Term: Hemochromatosis

- ID: D000019190

- Term: Iron Overload

- ID: D000006486

- Term: Hemosiderosis

### Intervention Browse Module - Browse Branches

- Abbrev: Micro

- Name: Micronutrients

- Abbrev: All

- Name: All Drugs and Chemicals

### Intervention Browse Module - Browse Leaves

- ID: M10533

- Name: Iron

- Relevance: LOW

- As Found: Unknown

### Misc Info Module

- Version Holder: 2024-05-24
