Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin

Study Overview
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Brief Summary
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Dowling Meara type of epidermolysis bullosa simplex (EBS-DM) is a rare genodermatosis due to keratin 5 and 14 mutation, characterized by skin fragility and spontaneous or post traumatic blisters. Neonatal period and infancy are critical since this autonomic dominant affection usually improves with age. Cyclins seem to be efficient in some cases of EBS but are prohibited in children younger than 8 years old. Erythromycin can be a good alternative in this population due to its antibacterial and anti-inflammatory potential. The aim of this study is the evaluation of the efficiency of oral erythromycin to decrease the number of cutaneous blisters in severe EBS-DM patients from 6 months to 8 years old after 3 months of treatment. Primary end point is the number of patients with decrease of blisters' number of at least 20% after 3 months of treatment by oral erythromycin. It is a preliminary study on 8 patients. Treatment is oral erythromycin twice a day during 3 months. Follow up for each patient is 5 months. The duration of the study is 1 year.

Official Title
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Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin

Conditions
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Epidermolysis Bullosa

Intervention / Treatment
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* Drug: Oral erythromycin


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Severe Dowling Meara EBS patients (2 or more new blisters a day) signature of informed consent Patient of 2 sexes Age from 6 months to 8 years. From this age we consider that the patient will less need this treatment or can take cyclines. Systematic Obtaining of the consent lit(enlightened) by the relatives(parents) of the child, after information about the objectives and the constraints of the study. Agreement of the minor Patient member to the Social Security Exclusion Criteria: Patient allergic to the erythromycin Patient presenting an intolerance to the fructose, a syndrome of malabsorption some glucose and some galactose or a deficit sucrase-isomaltase Renal and\or hepatic Insufficiency Patient taking a medicine against indicated or misadvised in association with the erythromycin

Ages Eligible for Study
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Minimum Age: 6 Months
Maximum Age: 8 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
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Oral erythromycin<br>Oral erythromycin | Drug: Oral erythromycin<br>* Severe Dowling Meara EBS patients from 6 months to 8 years old<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| number of patients with decrease of blisters' number of at least 20% after 3 months of treatment by oral erythromycin | Principal end point is evaluated at inclusion and after one month of treatment, 3 months of treatment and 2 months after the end of the treatment | at 3 months of treatment | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Secondary end points are : effect of 3 months of oral erythromycin on - Global tolerance of treatment. | For each patient and globally, the nature, the frequency and the severity of the various unwanted effects will be described on the duration of the study. | at 3 months of treatment | 
| Secondary end points are : effect of 3 months of oral erythromycin on - Involved area | These criteria will be analyzed in comparison with the values to the inclusion (M0). We shall try to estimate the obstinacy of an effect 2 months after the end of the treatment. | at 3 months of treatment | 
| Secondary end points are : effect of 3 months of oral erythromycin on - pruritus, | These criteria will be analyzed in comparison with the values to the inclusion (M0). We shall try to estimate the obstinacy of an effect 2 months after the end of the treatment. | at 3 months of treatment |