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

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Dysphagia; Recessive Dystrophic Epidermolysis Bullosa; Esophageal Stenosis
• Intervention / Treatment: Other: The retrospective data collected will be entered into an eCRF and then analyzed centrally

Detailed Description

Budesonide is a non-halogenated glucocorticoid that has an anti-inflammatory effect by binding to glucocorticoid receptors. In the treatment of eosinophilic esophagitis, whether as Jorveza or as a compounded formulation, it inhibits the antigen-induced secretion of various cytokines and pro-inflammatory molecules such as thymic stromal lymphopoietin, interleukin-13, and eotaxin-3 in the esophageal epithelium (1). This action leads to a significant reduction in inflammatory eosinophil infiltrates in the esophagus.

Dystrophic epidermolysis bullosa (DEB) is a rare genetic disease that causes fragile skin and mucous membranes, leading to blisters and wounds after trauma. Healing is abnormal and often associated with scarring and contractures.

The literature only reports two pediatric studies, with a total of eight DEB patients treated with a compounded formulation (CF) budesonide-based. These studies have shown good tolerance and satisfactory effectiveness on dysphagia (2, 3). To date, there is no data on the use of Jorveza in orally disintegrating tablets in adults with EBD, even though it is recommended for this indication in official guidelines (4). Our goal is to evaluate, within a cohort followed at the MAGEC reference center, the usefulness of budesonide in PM/orally disintegrating tablets, in patients of all ages with EBD.

• Study Type: Interventional
• Enrollment (Estimated): 15
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Christine CHIAVERINI, Doctor; Phone Number: 0492034702; Email: chiaverini.c@chu-nice.fr

Study Locations

• France
  • France
    • Nice, France, France, 06000
      • CHU de Nice
    • Paris, France, France, 75000
      • APHP Necker
      • Contact: Nathalia BELLON, Doctor; Phone Number: 0492034702; Email: nathalia.bellon@aphp.fr
    • Paris, France, France, 75000
      • APHP St Louis
      • Contact: Pauline Bataille, Doctor; Phone Number: 0492034702; Email: pauline.bataille@aphp.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

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.

Exclusion Criteria:

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)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Treatment
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: recessive dystrophic epidermolysis bullosa with dysphagia treated with oral BUDESONIDE; 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; 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
The assessment of budesonide treatment tolerance in patients	Assessed based on the side effects and/or reasons for stopping the treatment recorded in the medical file.	Month 3
Reduce meal time	yes or no	Month 0
Reduce meal time	yes or no	Month 1
oesophagal expansion number	number of necessary expansions during the study	Month 0
oesophagal expansion number	number of necessary expansions during the study	Month 1

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Nice

Study record dates

Study Major Dates

• Study Start (Estimated): July 1, 2026
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): June 30, 2027

Study Registration Dates

• First Submitted: June 16, 2026
• First Submitted That Met QC Criteria: July 1, 2026
• First Posted (Actual): July 6, 2026

Study Record Updates

• Last Update Posted (Actual): July 6, 2026
• Last Update Submitted That Met QC Criteria: July 1, 2026
• Last Verified: July 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Connective Tissue Diseases; Digestive System Diseases; Gastrointestinal Diseases; Esophageal Diseases; Skin Diseases; Congenital Abnormalities; Otorhinolaryngologic Diseases; Skin Diseases, Genetic; Pharyngeal Diseases; Skin Abnormalities; Skin Diseases, Vesiculobullous; Collagen Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Epidermolysis Bullosa; Deglutition Disorders; Epidermolysis Bullosa Dystrophica; Esophageal Stenosis
• Other Study ID Numbers: 26-PP-03; IDRCB (Other Identifier: 2025-A02957-42)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No