The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

NCT ID: NCT05033574

Last Updated: 2021-09-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-12-08

Study Completion Date

2023-06-01

Brief Summary

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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.

Detailed Description

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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.

Conditions

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

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Study Groups

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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.

Biochemical study of hormone levels

Intervention Type 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

Ultrasound examination

Intervention Type DIAGNOSTIC_TEST

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

Radiography of the hands

Intervention Type RADIATION

Determination of bone age using radiography of the hands

Consultation of a medical psychologist

Intervention Type BEHAVIORAL

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.

Biochemical study of hormone levels

Intervention Type 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

Ultrasound examination

Intervention Type DIAGNOSTIC_TEST

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

Radiography of the hands

Intervention Type RADIATION

Determination of bone age using radiography of the hands

Consultation of a medical psychologist

Intervention Type BEHAVIORAL

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.

Biochemical study of hormone levels

Intervention Type 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

Ultrasound examination

Intervention Type DIAGNOSTIC_TEST

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

Radiography of the hands

Intervention Type RADIATION

Determination of bone age using radiography of the hands

Consultation of a medical psychologist

Intervention Type BEHAVIORAL

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.

Biochemical study of hormone levels

Intervention Type 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

Ultrasound examination

Intervention Type DIAGNOSTIC_TEST

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

Radiography of the hands

Intervention Type RADIATION

Determination of bone age using radiography of the hands

Consultation of a medical psychologist

Intervention Type 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 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.

Biochemical study of hormone levels

Intervention Type 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

Ultrasound examination

Intervention Type DIAGNOSTIC_TEST

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

Radiography of the hands

Intervention Type RADIATION

Determination of bone age using radiography of the hands

Consultation of a medical psychologist

Intervention Type 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 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.

Biochemical study of hormone levels

Intervention Type 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

Ultrasound examination

Intervention Type DIAGNOSTIC_TEST

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

Radiography of the hands

Intervention Type RADIATION

Determination of bone age using radiography of the hands

Consultation of a medical psychologist

Intervention Type 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 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.

Biochemical study of hormone levels

Intervention Type 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

Ultrasound examination

Intervention Type DIAGNOSTIC_TEST

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

Radiography of the hands

Intervention Type RADIATION

Determination of bone age using radiography of the hands

Consultation of a medical psychologist

Intervention Type 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

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.

Biochemical study of hormone levels

Intervention Type 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

Ultrasound examination

Intervention Type DIAGNOSTIC_TEST

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

Radiography of the hands

Intervention Type RADIATION

Determination of bone age using radiography of the hands

Consultation of a medical psychologist

Intervention Type BEHAVIORAL

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

Interventions

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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

Intervention Type DIAGNOSTIC_TEST

Ultrasound examination

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

Intervention Type DIAGNOSTIC_TEST

Radiography of the hands

Determination of bone age using radiography of the hands

Intervention Type RADIATION

Consultation of a medical psychologist

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

Intervention Type BEHAVIORAL

Eligibility Criteria

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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).
Minimum Eligible Age

8 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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

OTHER_GOV

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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National Medical Research Center for Children's Health

Moscow, , Russia

Site Status

Countries

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Russia

Other Identifiers

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6

Identifier Type: -

Identifier Source: org_study_id

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