The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

Epidermolysis Bullosa Clinical Trial

Official title:

The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT05033574
• Other study ID #: 6
• Status: Active, not recruiting
• Start date: December 8, 2020
• Est. completion date: June 1, 2023

Study information

• Verified date: July 2021
• Source: National Medical Research Center for Children's Health, Russian Federation
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 50
• Est. completion date: June 1, 2023
• Est. primary completion date: December 1, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 8 Years to 18 Years

Eligibility

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).

Related Conditions & MeSH terms

• Dermatologic Disease
• Endocrine System Diseases
• Epidermolysis Bullosa
• Epidermolysis Bullosa Dystrophica
• Epidermolysis Bullosa Simplex
• Epidermolysis Bullosa, Junctional
• Hormone Disturbance
• Puberty Disorders
• Skin Diseases

Intervention

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
• 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

Locations

Country	Name	City	State
Russian Federation	National Medical Research Center for Children's Health	Moscow

Sponsors (1)

Lead Sponsor	Collaborator
National Medical Research Center for Children's Health, Russian Federation

Country where clinical trial is conducted

Russian Federation, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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
Primary	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