Recessive dystrophic epidermolysis bullosa
MONDO:0009179Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
Also known as: EBD inversa, RDEB generalisata gravis, RDEB, Hallopeau-Siemens type, RDEB-sev gen, autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, autosomal recessive, modifier of
24 clinical trials for this condition and its sub-types.
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Broader categories
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Gene therapy heals wounds in rare skin disease?
Disease control OngoingThis phase 3 trial tests a gene therapy called FCX-007 for people with recessive dystrophic epidermolysis bullosa, a rare disease that causes fragile skin and painful blisters. The therapy uses the patient's own skin cells, genetically corrected to produce collagen, and injects t…
Phase: PHASE3 • Sponsor: Castle Creek Biosciences, LLC. • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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Gene-Fixed skin patches tested for rare 'Butterfly' disease
Disease control OngoingThis trial tests a new approach for recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic condition that causes fragile, blistering skin. Researchers take a small piece of the patient's own skin, fix the faulty gene in a lab, grow it into a larger sheet, and graft it …
Phase: PHASE1, PHASE2 • Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Disease control
Last updated Jun 27, 2026 09:04 UTC
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Stem cell therapy offers hope for children with butterfly skin
Disease control OngoingThis study tests a stem cell treatment for epidermolysis bullosa, a rare disease causing fragile skin that blisters easily. About 91 people with two types of EB will receive the cells or a placebo through an IV. The main goal is to see if the treatment can safely close stubborn w…
Phase: PHASE3 • Sponsor: RHEACELL GmbH & Co. KG • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Stem cell trial aims to heal wounds in 'Butterfly Skin' disease
Disease control OngoingThis phase 3 trial tests whether ABCB5-positive stem cells given through an IV can safely and effectively heal wounds in people with epidermolysis bullosa, a rare genetic condition that causes fragile, blistering skin. The study includes 9 participants with a specific type of the…
Phase: PHASE3 • Sponsor: RHEACELL GmbH & Co. KG • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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AI app aims to catch deadly skin cancer early in rare disease patients
Diagnosis OngoingThis study is developing an artificial intelligence app to detect squamous cell carcinoma (a type of skin cancer) in people with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic blistering condition. Twenty adults with RDEB and a history of skin cancer will submi…
Sponsor: Northwestern University • Aim: Diagnosis
Last updated Jun 27, 2026 09:01 UTC
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New eye drops aim to soothe blistering eye pain in rare skin disease
Symptom relief OngoingThis early-stage study tests whether ELK-003 eye drops can safely reduce eye symptoms in people with two types of epidermolysis bullosa (EB), a rare condition causing fragile skin and blisters. About 20 participants will first be observed without treatment, then receive the eye d…
Phase: PHASE1 • Sponsor: Fundación DEBRA Chile, Niños Piel de Cristal • Aim: Symptom relief
Last updated Jun 27, 2026 08:07 UTC
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AI vs. skin doctors: who diagnoses better?
Knowledge-focused ENROLLING_BY_INVITATIONThis study looks at whether artificial intelligence (AI) can match a dermatologist's diagnosis when a general practitioner sends in photos and questions about a patient's skin condition. Researchers will compare the AI's diagnosis to the dermatologist's for about 1000 adults. The…
Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC