Vitamin D Status and Bone Metabolism Status in Children With Congenital Epidermolysis Bullosa

Study Overview
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Brief Summary
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This retrospective prospective study is aimed at studying the level of vitamin D supply and identifying markers of bone tissue remodeling in order to develop approaches to the prevention of osteopenia and osteoporosis in children with congenital epidermolysis bullosa.

Detailed Description
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This retrospective prospective interventional study will examine vitamin D availability and its relationship with clinical disease, patient gender and age, and season. The mechanisms of impairment of phosphorus-calcium metabolism and bone tissue metabolism will be analyzed on the basis of biochemical parameters and instrumental research methods in children with dystrophic epidermolysis bullosa in order to develop personalized approaches for correcting vitamin D status and bone metabolism disorders in children with epidermolysis bullosa, followed by an assessment of their clinical efficacy.

Official Title
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Vitamin D Status and Bone Metabolism Status in Children With Congenital Epidermolysis Bullosa

Conditions
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Bullosa Epidermolysis, Vitamin D Deficiency, Osteoporosis, Osteopenia, Phosphorus and Calcium Disorders

Intervention / Treatment
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* Drug: Vitamin D
* Dietary Supplement: Oral nutritional supplement


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Verified diagnosis of epidermolysis bullosa; Signing by parents (legal representatives) of informed consent to participate in the study and fulfill the requirements of the study Exclusion Criteria: not planned

Ages Eligible for Study
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Minimum Age: 0 Years
Maximum Age: 17 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Non-Randomized
Intervention Model: Parallel Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Group 1 - Vitamin D<br>Patients receiving vitamin D supplements in therapy | Drug: Vitamin D<br>* Adding vitamin D preparations to the therapy in the individual required dosage to correct the deficient state<br>|
| Experimental: Group 2 - Oral nutritional supplement<br>Patients receiving oral nutritional supplement | Dietary Supplement: Oral nutritional supplement<br>* Adding оral nutritional supplement to the therapy depending on the degree of protein-energy malnutrition<br>|
| Experimental: Group 3 - Vitamin D+Oral nutritional supplement<br>Patients receiving vitamin D supplements and oral nutritional supplement in therapy | Drug: Vitamin D<br>* Adding vitamin D preparations to the therapy in the individual required dosage to correct the deficient state<br>Dietary Supplement: Oral nutritional supplement<br>* Adding оral nutritional supplement to the therapy depending on the degree of protein-energy malnutrition<br>|
| No Intervention: Group 4 - No intervention<br>Patients with dystrophic form of congenital epidermolysis bullosa who have not taken vitamin D supplements and/or oral nutritional supplement | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Vitamin D level | Study of the provision of vitamin D in children with dystrophic and simple forms of epidermolysis bullosa based on the level of 25 (OH) vitamin D (25 hydroxycholecalciferol) in the blood | Baseline | 
| Vitamin D level | Study of the provision of vitamin D in children with dystrophic and simple forms of epidermolysis bullosa based on the level of 25 (OH) vitamin D (25 hydroxycholecalciferol) in the blood | 24 week | 
| Phosphorus-calcium metabolism assessment | Study of levels of calcium, phosphorus, parathyroid hormone, creatinine, magnesium, albumin in the blood | Baseline | 
| Phosphorus-calcium metabolism assessment | Study of levels of calcium, phosphorus, parathyroid hormone, creatinine, magnesium, albumin in the blood | 24 week | 
| Assessment of the state of bone tissue | Study of levels of alkaline phosphatase, osteocalcin, b-CrossLaps, P1NP in the blood | Baseline | 
| Assessment of the state of bone tissue | Study of levels of alkaline phosphatase, osteocalcin, b-CrossLaps, P1NP in the blood | 24 week | 
| Assessment of indicators of physical development | Z-score calculation (weight-for-height z-score) | Baseline | 
| Assessment of indicators of physical development | Z-score calculation (weight-for-height z-score) | 24 wee | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Assessment of bone mineral density | dual-energy X-ray densitometry | Baseline | 
| Assessment of bone mineral density | dual-energy X-ray densitometry | 24 week | 
| Bone age assessment | X-ray of the bones of the hand with an assessment of bone age | Baseline | 
| Bone age assessment | X-ray of the bones of the hand with an assessment of bone age | 24 week | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Children, Only