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.
Follow this condition — get notified about new trialsSub-types
Broader categories
-
New combo therapy aims to heal wounds in rare skin disease
Disease control Recruiting nowThis study tests whether adding IV IgG treatment to standard VYJUVEK therapy can help wounds heal faster and reduce blistering in people with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic skin condition. Eight participants will receive IV IgG alongside their u…
Phase: PHASE1, PHASE2 • Sponsor: M. Peter Marinkovich • Aim: Disease control
Last updated Jun 27, 2026 12:29 UTC
-
Gene therapy gel aims to stop skin cancer from coming back in RDEB patients
Disease control Recruiting nowThis phase 2 trial tests whether a gene therapy gel called BVEC can reduce the return of squamous cell carcinoma (a type of skin cancer) in people with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic condition that causes fragile, blistering skin. The gel is app…
Phase: PHASE2 • Sponsor: Stanford University • Aim: Disease control
Last updated Jun 27, 2026 12:09 UTC
-
Lab-Grown skin patch could heal wounds in 'Butterfly Children'
Disease control Recruiting nowThis study tests a new skin graft made from a patient's own cells, genetically modified to produce a missing protein. It aims to safely heal wounds in 9 people with recessive dystrophic epidermolysis bullosa (RDEB), a rare disease that causes fragile, blistering skin. The graft i…
Phase: PHASE1, PHASE2 • Sponsor: CHU de Quebec-Universite Laval • Aim: Disease control
Last updated Jun 27, 2026 11:02 UTC
-
New eye drops aim to ease painful corneal scratches in rare skin disease
Disease control Recruiting nowThis study tests an eye drop called KB803 in 16 people aged 6 months and older with dystrophic epidermolysis bullosa (DEB), a rare genetic condition causing fragile skin and recurrent corneal abrasions. Participants will receive both KB803 and a placebo in random order to see if …
Phase: PHASE3 • Sponsor: Krystal Biotech, Inc. • Aim: Disease control
Last updated Jun 27, 2026 11:01 UTC
-
AI reads your skin: new tool aims to help doctors spot rashes and moles
Diagnosis Recruiting nowThis study is testing a software tool called Belle.ai that uses artificial intelligence to help doctors diagnose common skin diseases. About 400 patients at dermatology clinics will have three photos taken of their skin condition. The AI will analyze the photos and suggest possib…
Sponsor: Wake Forest University Health Sciences • Aim: Diagnosis
Last updated Jun 27, 2026 07:55 UTC
-
New program aims to reduce shame from chronic illness
Symptom relief Recruiting nowThis study tests a group counseling program called Healing HEARTS to help people with conditions like obesity, skin disease, cancer, HIV, diabetes, or chronic pain deal with internalized stigma. Participants will either join the counseling program or a peer support group. The goa…
Phase: NA • Sponsor: University of Florida • Aim: Symptom relief
Last updated Jun 27, 2026 09:02 UTC
-
Scientists seek skin samples to unlock disease secrets
Knowledge-focused Recruiting nowThis study collects biological samples—like blood, skin biopsies, and swabs—from people with or at risk for skin diseases, as well as healthy volunteers. Researchers will use these samples to study the causes of skin conditions and explore potential treatments. Up to 700 particip…
Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:00 UTC
-
Stanford launches study to better understand rare blistering skin disease
Knowledge-focused Recruiting nowThis study is screening people with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic disease that causes painful blisters and open wounds from minor skin contact. Researchers at Stanford want to learn more about the disease and the patients' cells to develop new …
Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:23 UTC
-
Cancer Patients' skin woes under the microscope
Knowledge-focused Recruiting nowThis study looks at how skin conditions related to cancer or cancer treatments affect the well-being of cancer patients and survivors. About 1,025 participants will fill out questionnaires about their skin condition. The goal is to better understand these effects and improve trea…
Sponsor: Memorial Sloan Kettering Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC