NCT05033574

The State of Sexual Development in Children With Inherited Epidermolysis Bullosa

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 50 (actual)
• Sponsor: National Medical Research Center for Children's Health, Russian Federation · Other Government
• Sex: All
• Age: 8 Years – 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

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

Interventions

Type	Name	Description
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

Timeline

• Start date: 2020-12-08
• Primary completion: 2021-12-01
• Completion: 2023-06-01
• First posted: 2021-09-05
• Last updated: 2021-09-05

Locations

1 site across 1 country: Russia