The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

NCT05033574 | Unknown DMC

• 1 other identifier: 6
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

Brief Summary

The aim of the study is to determine the state of sexual development in patients with inherited epidermolysis bullosa; the study is planned to include boys and girls aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex, junctional epidermolysis bullosa, Kindler syndrome.

Conditions

Dermatologic Disease; Epidermolysis Bullosa; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Kindler Syndrome; Puberty Disorders; Hormone Disturbance

Keywords

inherited epidermolisys bullosa; epidermolisys bullosa; epidermolisys bullosa simplex; epidermolisys bullosa junctional; epidermolisys bullosa dystrophic; Kindler syndrome; puberty; sexual development; epidermolysis bullosa; congenital epidermolysis bullosa

Outcome Measures

Primary Outcomes (10)

• Assessment of the state of sexual development of children with various types of inherited epidermolysis bullosa using the Tanner scale

  The endocrinologist's assessment of pubertal development in boys and girls using the Tanner Scale

  1 day

• Determination of the state of functional activity of the sex glands in children with various types of inherited epidermplysis bullosa by the method of biochemical study of the level of sex hormones

  Determination of serum levels of sex hormones in patients (luteinizing hormone, follicle-stimulating hormone, estradiol, total testosterone).

  1 day

• Determination of additional hormonal indicators

  Determination of blood levels of adrenocorticotropic hormone, cortisol, dehydroepiandrosterone-sulfate, 17-hydroxyprogesterone, prolactin, insulin, thyrotropic hormone, triiodothyronine and thyroxine.

  1 day

• Functional development and morphometric parameters of the genital glands in children with various types of inherited epidermolysis bullosa by ultrasound diagnostics

  Ultrasound examination of pelvic organs in girls and scrotal organs in boys to determine morphometric indices.

  1 day

• The state of bone age in children with various types of inherited epidermolysis bullosa using X-ray examination of the hands

  Determination of bone and chronological age correspondence by radiography of the left wrist joint.

  1 day

• Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the Pearce-Harris scale

  Determination of the relationship between self-esteem and gender development in children with different types of hereditary epidermolysis bullosa using the Peirce-Harris scale

  1 day

• Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the personality drawing technique of K. Machover

  Determination of the relationship between self-esteem and gender development in children with different types of hereditary epidermolysis bullosa using the personality drawing technique of K. Machover

  1 day

• Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the T. Aachenbach questionnaire

  Determination of the relationship between self-esteem and gender development in children with different types of hereditary epidermolysis bullosa using the T. Aachenbach questionnaire

  1 day

• Determination of the level of intellectual development in children with various types of inherited epidermolysis bullosa using D. Wexler's test

  Determination of the level of intellectual development and its components (verbal and non-verbal intelligence) in children with various types of inherited epidermolysis bullosa

  1 day

• Determination of the severity of the course of the disease in children with various types of inherited epidermolysis bullosa using EBDASI

  Determination of the severity of the course of the disease in children with various types of inherited epidermolysis bullosa using Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI)

  1 day

Study Arms (8)

Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex

Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Diagnostic Test: Biochemical study of hormone levels; Diagnostic Test: Ultrasound examination; Radiation: Radiography of the hands; Behavioral: Consultation of a medical psychologist

Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa

Female patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Diagnostic Test: Biochemical study of hormone levels; Diagnostic Test: Ultrasound examination; Radiation: Radiography of the hands; Behavioral: Consultation of a medical psychologist

Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic

Female patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Diagnostic Test: Biochemical study of hormone levels; Diagnostic Test: Ultrasound examination; Radiation: Radiography of the hands; Behavioral: Consultation of a medical psychologist

Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome

Female patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Diagnostic Test: Biochemical study of hormone levels; Diagnostic Test: Ultrasound examination; Radiation: Radiography of the hands; Behavioral: Consultation of a medical psychologist

Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex

Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa simplex. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Diagnostic Test: Biochemical study of hormone levels; Diagnostic Test: Ultrasound examination; Radiation: Radiography of the hands; Behavioral: Consultation of a medical psychologist

Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa

Male patients aged 8 to 18 years with a diagnosis of junctional epidermolysis bullosa. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Diagnostic Test: Biochemical study of hormone levels; Diagnostic Test: Ultrasound examination; Radiation: Radiography of the hands; Behavioral: Consultation of a medical psychologist

Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic

Male patients aged 8 to 18 years with a diagnosis of epidermolysis bullosa dystrophic. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Diagnostic Test: Biochemical study of hormone levels; Diagnostic Test: Ultrasound examination; Radiation: Radiography of the hands; Behavioral: Consultation of a medical psychologist

Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa

Male patients aged 8 to 18 years with a diagnosis of Kindler syndrome. Based on the results of diagnostic methods, further division of patients into prepubertal and pubertal periods of puberty is planned.

Diagnostic Test: Biochemical study of hormone levels; Diagnostic Test: Ultrasound examination; Radiation: Radiography of the hands; Behavioral: Consultation of a medical psychologist

Interventions

Biochemical study of hormone levels DIAGNOSTIC_TEST

Biochemical study of the level of follicle-stimulating hormone, luteinizing hormone, estradiol, total testosterone, prolactin, 17-hydroxyprogesterone, dehydroepiandrosterone sulfate, cortisol, insulin, thyroid-stimulating hormone, tetraiodothyronine, thyr

Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa; Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic; Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex; Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa; Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome; Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic; Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex; Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa

Ultrasound examination DIAGNOSTIC_TEST

Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys

Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa; Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic; Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex; Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa; Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome; Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic; Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex; Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa

Radiography of the hands RADIATION

Determination of bone age using radiography of the hands

Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa; Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic; Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex; Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa; Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome; Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic; Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex; Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa

Consultation of a medical psychologist BEHAVIORAL

Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence

Prepubescent and pubertal boys with an established diagnosis of Kindler epidermolysis bullosa; Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa dystrophic; Prepubescent and pubertal boys with an established diagnosis of epidermolysis bullosa simplex; Prepubescent and pubertal boys with an established diagnosis of junctional epidermolysis bullosa; Prepubescent and pubertal girls with an established diagnosis of Kindler syndrome; Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa dystrophic; Prepubescent and pubertal girls with an established diagnosis of epidermolysis bullosa simplex; Prepubescent and pubertal girls with an established diagnosis of junctional epidermolysis bullosa

Eligibility Criteria

• Age: 8 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Male and female patients from 8 to 18 years of age with an established diagnosis of epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome.

You may qualify if:

• \. Male and female patients from 8 to 18 years of age with an established diagnosis of epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome.

You may not qualify if:

• Hypergonadotropic hypogonadism;
• previous treatment with sex steroids or gonadotropins;
• the presence of endocrine diseases (hypothyroidism, hypercorticism, hyperprolactinemia, diabetes mellitus);
• the presence of chronic somatic diseases that are not complications of inherited epidermolysis bullosa (bronchopulmonary diseases, cardiovascular diseases, diseases of the urinary system, diseases of the gastrointestinal tract).

Sponsors & Collaborators

• National Medical Research Center for Children's Health, Russian Federation: lead

Study Sites (1)

National Medical Research Center for Children's Health

Moscow, 119296, Russia

Location

MeSH Terms

Conditions

Skin Diseases; Epidermolysis Bullosa; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa, Junctional; Poikiloderma of Kindler; Endocrine System Diseases

Condition Hierarchy (Ancestors)

Skin and Connective Tissue Diseases; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Skin Diseases, Vesiculobullous; Collagen Diseases; Connective Tissue Diseases

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 25, 2021
• First Posted: September 5, 2021
• Study Start: December 8, 2020
• Primary Completion: December 1, 2021
• Study Completion: June 1, 2023
• Last Updated: September 5, 2021

Record last verified: 2021-07

Locations

RU (1)