Autosomal dominant generalized epidermolysis bullosa simplex, severe form

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ORPHA:79396OMIM:131760Q81.0
Who is this for?
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1Active trials8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

Clinical phenotype terms— hover any for plain English:

Aplasia cutis congenitaHP:0001057Aplasia cutis congenita on trunk or limbsHP:0007589Generalized reticulate brown pigmentationHP:0007599Gastrostomy tube feeding in infancyHP:0011471ScarringHP:0100699
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Sep 2025A Phase II, Placebo Controlled, Clinical Trial of Topical TolaSure Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex

BioMendics, LLC — PHASE2

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Autosomal dominant generalized epidermolysis bullosa simplex, severe form.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Phase 21 trial
A Phase II, Placebo Controlled, Clinical Trial of Topical TolaSure Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex
Phase 2
Actively Recruiting
· Sites: Palo Alto, California; Chicago, Illinois · Age: 499 yrs

No specialists are currently listed for Autosomal dominant generalized epidermolysis bullosa simplex, severe form.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Autosomal dominant generalized epidermolysis bullosa simplex, severe form.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Disease timeline:

New recruiting trial: A Phase II, Placebo Controlled, Clinical Trial of Topical TolaSure Targeting Aggregated Mutant Keratin in Epidermolysis Bullosa Simplex

A new clinical trial is recruiting patients for Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Are there clinical trials for Autosomal dominant generalized epidermolysis bullosa simplex, severe form?

Yes — 1 recruiting clinical trial is currently listed for Autosomal dominant generalized epidermolysis bullosa simplex, severe form on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.