The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Epidermolysis Bullosa; Hormone Disturbance; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa Simplex; Dermatologic Disease; Epidermolysis Bullosa, Junctional; Puberty Disorders; Kindler Syndrome
• Intervention / Treatment: Diagnostic test: Biochemical study of hormone levels; Diagnostic test: Ultrasound examination; Radiation: Radiography of the hands; Behavioral: Consultation of a medical psychologist

Detailed Description

Determination of sexual development in children with various types of inherited epidermolysis bullosa using clinical, laboratory and instrumental methods for diagnosing the condition.

Phenotyping of patients with inherited epidermolysis bullosa, taking into account their physical and sexual development, indicators of self-attitude and socialization.

Development of algorithms for individual care for patients with inherited epidermolysis bullosa, including an assessment of the psychological state at different age stages (primary school and adolescence), the volume and form of psychological and pedagogical assistance in complex rehabilitation.

• Study Type: Observational
• Enrollment (Actual): 50

Contacts and Locations

Study Locations

• Russian Federation
  • Moscow, Russian Federation, 119296
    • National Medical Research Center for Children's Health

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 8 years to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

Inclusion Criteria:

1. 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.

Exclusion Criteria:

1. Hypergonadotropic hypogonadism;
2. previous treatment with sex steroids or gonadotropins;
3. the presence of endocrine diseases (hypothyroidism, hypercorticism, hyperprolactinemia, diabetes mellitus);
4. 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).

Study Plan

How is the study designed?

Number of groups / cohorts

8

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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; 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; Diagnostic test: Ultrasound examination; Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys; Radiation: Radiography of the hands; Determination of bone age using radiography of the hands; Behavioral: Consultation of a medical psychologist; Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence
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; 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; Diagnostic test: Ultrasound examination; Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys; Radiation: Radiography of the hands; Determination of bone age using radiography of the hands; Behavioral: Consultation of a medical psychologist; Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence
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; 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; Diagnostic test: Ultrasound examination; Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys; Radiation: Radiography of the hands; Determination of bone age using radiography of the hands; Behavioral: Consultation of a medical psychologist; Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence
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; 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; Diagnostic test: Ultrasound examination; Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys; Radiation: Radiography of the hands; Determination of bone age using radiography of the hands; Behavioral: Consultation of a medical psychologist; 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 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; 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; Diagnostic test: Ultrasound examination; Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys; Radiation: Radiography of the hands; Determination of bone age using radiography of the hands; Behavioral: Consultation of a medical psychologist; 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 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; 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; Diagnostic test: Ultrasound examination; Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys; Radiation: Radiography of the hands; Determination of bone age using radiography of the hands; Behavioral: Consultation of a medical psychologist; 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 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; 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; Diagnostic test: Ultrasound examination; Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys; Radiation: Radiography of the hands; Determination of bone age using radiography of the hands; Behavioral: Consultation of a medical psychologist; 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; 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; 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; Diagnostic test: Ultrasound examination; Ultrasound examination of the pelvic organs in girls and the scrotum organs in boys; Radiation: Radiography of the hands; Determination of bone age using radiography of the hands; Behavioral: Consultation of a medical psychologist; Consultation with a medical psychologist to determine the patient's psychological condition and level of intelligence

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start (Actual): December 8, 2020
• Primary Completion (Anticipated): December 1, 2021
• Study Completion (Anticipated): June 1, 2023

Study Registration Dates

• First Submitted: July 25, 2021
• First Submitted That Met QC Criteria: August 26, 2021
• First Posted (Actual): September 5, 2021

Study Record Updates

• Last Update Posted (Actual): September 5, 2021
• Last Update Submitted That Met QC Criteria: August 26, 2021
• Last Verified: July 1, 2021

More Information

Terms related to this study

• Keywords: epidermolysis bullosa; puberty; inherited epidermolisys bullosa; epidermolisys bullosa; epidermolisys bullosa simplex; epidermolisys bullosa junctional; epidermolisys bullosa dystrophic; Kindler syndrome; sexual development; congenital epidermolysis bullosa
• Additional Relevant MeSH Terms: Congenital Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin Diseases, Genetic; Skin Diseases, Vesiculobullous; Skin Abnormalities; Collagen Diseases; Skin Diseases; Endocrine System Diseases; Epidermolysis Bullosa; Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa Simplex; Epidermolysis Bullosa, Junctional; Physiological Effects of Drugs; Hormones, Hormone Substitutes, and Hormone Antagonists; Hormones
• Other Study ID Numbers: 6

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

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