Clinical trial NCT05033574: The State of Sexual Development in Children With Inherited Epidermolysis Bullosa
Official title: The State of Sexual Development in Children With Inherited Epidermolysis Bullosa
Study type: OBSERVATIONAL
Overall status: UNKNOWN
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
Lead sponsor: National Medical Research Center for Children's Health, Russian Federation
Sponsor class: OTHER_GOV
First posted: 2021-09-05
Enrollment: 50
Sex: ALL
Minimum age (years): 8
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
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.

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.

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.

Eligibility criteria: 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).

Primary outcomes:
measure: Assessment of the state of sexual development of children with various types of inherited epidermolysis bullosa using the Tanner scale
timeFrame: 1 day
measure: 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
timeFrame: 1 day
measure: Determination of additional hormonal indicators
timeFrame: 1 day
measure: Functional development and morphometric parameters of the genital glands in children with various types of inherited epidermolysis bullosa by ultrasound diagnostics
timeFrame: 1 day
measure: The state of bone age in children with various types of inherited epidermolysis bullosa using X-ray examination of the hands
timeFrame: 1 day
measure: Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the Pearce-Harris scale
timeFrame: 1 day
measure: Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the personality drawing technique of K. Machover
timeFrame: 1 day
measure: Determination of the psychological state of children with various types of inherited epidermolysis bullosa using the T. Aachenbach questionnaire
timeFrame: 1 day
measure: Determination of the level of intellectual development in children with various types of inherited epidermolysis bullosa using D. Wexler's test
timeFrame: 1 day
measure: Determination of the severity of the course of the disease in children with various types of inherited epidermolysis bullosa using EBDASI
timeFrame: 1 day
Secondary outcomes:
Other outcomes:
Locations:
city: Moscow
country: Russian Federation
facility: National Medical Research Center for Children's Health
Study officials:
References: