Treatment of Dysphagia in Patients With Dystrophic Epidermolysis Bullosa With Budesonide: a Retrospective Bicentric Study Nice - Paris St Louis / Necker (EBUDE Study)

NCT07684105 | Not Yet Recruiting

• 2 other identifiers: 26-PP-03IDRCB
• Study Type: interventional
• Target: 15
• Locations: 1 country
• Sites: 3

Brief Summary

Budesonide is an anti-inflammatory medication that works by decreasing the immune system's overreaction. In the treatment of eosinophilic esophagitis, especially with Jorveza or a preparation made in a pharmacy, it reduces the production of substances responsible for inflammation in the esophagus. This action reduces the accumulation of certain inflammatory cells (eosinophils) and thus improves the symptoms and lesions of the esophagus. Dystrophic epidermolysis bullosa (EBD) is a rare genetic disease that makes the skin and mucous membranes very fragile. Blisters, sores and wounds can appear as a result of even minor trauma. Scarring is often abnormal and can cause tissue to shrink or shrink. To date, only two studies involving a total of eight children with EBD have evaluated a budesonide-based preparation. The results show an improvement in swallowing difficulties (dysphagia) as well as good tolerance of the treatment. However, there are currently no published data regarding the use of Jorveza in the form of an orally disintegrating tablet in adults with EBD. Through the follow-up of patients treated at the MAGEC reference center, specialized in rare genetic diseases of the skin and mucous membranes, we aim to evaluate the interest and effects of budesonide treatment in individuals with EBD presenting with dysphagia.

Conditions

Dysphagia; Esophageal Stenosis; Recessive Dystrophic Epidermolysis Bullosa

Outcome Measures

Primary Outcomes (2)

• overall patient satisfaction with the treatment

  5-point Likert scale (4: complete satisfaction and 0: no change)

  month 1

• overall patient satisfaction with the treatment

  5-point Likert scale (4: complete satisfaction and 0: no change)

  month 3

Secondary Outcomes (5)

• The assessment of budesonide treatment tolerance in patients

  Month 3

• Reduce meal time

  Month 0

• Reduce meal time

  Month 1

• oesophagal expansion number

  Month 0

• oesophagal expansion number

  Month 1

Study Arms (1)

recessive dystrophic epidermolysis bullosa with dysphagia treated with oral BUDESONIDE

OTHER

The retrospective data collected will be entered into an eCRF and then analyzed centrally

Other: The retrospective data collected will be entered into an eCRF and then analyzed centrally

Interventions

The retrospective data collected will be entered into an eCRF and then analyzed centrally OTHER

there is no treatment for the study but the patient take a treatment out of MMA and the retrospectives datas collected will be entered into an eCRF and then analyzed centrally by the sponsor

recessive dystrophic epidermolysis bullosa with dysphagia treated with oral BUDESONIDE

Eligibility Criteria

• Age: 1 Year+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Patients of both sexes, of any age, with EBD in dominant or recessive form, treated for at least one month with budesonide for dysphagia resistant to usual treatments.
• A description of the clinical form must be available in the file. The patient must assess the benefit of treatment at 1 and/or 3 months of Budesonide.
• Patients must be affiliated with social security. For adults, consent of non-opposition is required, and for minors, non-opposition from one of the parents or the person holding parental authority must be collected.

You may not qualify if:

• No precise clinical or biological diagnosis. Treatment with Budesonide \< 1 month. No evaluation criteria in the file / Objection to the use of data (withdrawal of non-opposition)

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (3)

CHU de Nice

Nice, France, 06000, France

Location

APHP Necker

Paris, France, 75000, France

Location

APHP St Louis

Paris, France, 75000, France

Location

MeSH Terms

Conditions

Epidermolysis Bullosa Dystrophica; Deglutition Disorders; Esophageal Stenosis

Condition Hierarchy (Ancestors)

Epidermolysis Bullosa; Skin Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin Diseases, Genetic; Genetic Diseases, Inborn; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Skin Diseases; Skin Diseases, Vesiculobullous; Esophageal Diseases; Gastrointestinal Diseases; Digestive System Diseases; Pharyngeal Diseases; Otorhinolaryngologic Diseases

Central Study Contacts

Christine CHIAVERINI, Doctor

CONTACT

0492034702; chiaverini.c@chu-nice.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: Retrospective study of a patient with recessive dystrophic epidermolysis bullosa and dysphagia treated with oral BUDESONIDE

Study Record Dates

• First Submitted: June 16, 2026
• First Posted: July 6, 2026
• Study Start: July 1, 2026
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): June 30, 2027
• Last Updated: July 6, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (3)