Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

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ORPHA:79399OMIM:131900Q81.0
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2Active trials2Specialists8Treatment centers

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

Also known as:

Epidermolysis bullosa simplex, Koebner typeEpidermolysis bullosa simplex, Köbner typeAutosomal dominant generalized EBS, intermediate form

Clinical phenotype terms— hover any for plain English:

Lamina lucida cleavageHP:0003341Skin fragility with non-scarring blisteringHP:0007585Spotty hyperpigmentationHP:0005585Spotty hypopigmentationHP:0005590Plantar hyperkeratosisHP:0007556Palmar hyperkeratosisHP:0010765Mixed hypo- and hyperpigmentation of the skinHP:0009123Hypomelanotic maculeHP:0009719
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events
Aug 2024A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized

Centre Hospitalier Universitaire de Nice — PHASE2

TrialRECRUITING
Apr 2024An International, Multicenter, Randomized, Double-Blind, Parallel Group, Vehicle-Controlled, Phase 2/3 Study With Open-Label Extension Evaluating the Efficacy and Safety of Diacerein 1% Ointment for the Treatment of Generalized Epidermolysis Bullosa Simplex (EBS)

TWi Biotechnology, Inc. — PHASE2, PHASE3

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, intermediate form.

2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

2 recruitingView all trials with filters →
Phase 21 trial
A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized
Phase 2
Actively Recruiting
· Sites: Nice, France; Paris, France +2 more · Age: 6–99 yrs
View on ClinicalTrials.gov ↗I'm interested →

Specialists

2 foundView all specialists →
JT
Joyce M Teng
PALO ALTO, CA
Specialist
PI on 2 active trials
DM
Dedee F Murrell
Specialist
PI on 1 active trial

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, intermediate form.

Search all travel grants →NORD Financial Assistance ↗

Community

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

Disease timeline:

New recruiting trial: An International, Multicenter, Randomized, Double-Blind, Parallel Group, Vehicle-Controlled, Phase 2/3 Study With Open-Label Extension Evaluating the Efficacy and Safety of Diacerein 1% Ointment for the Treatment of Generalized Epidermolysis Bullosa Simplex (EBS)

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

New recruiting trial: A 20-Week Study Assessing the Efficacy of Apremilast in Patients with EB Simplex Generalized

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

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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, intermediate form

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

Yes — 2 recruiting clinical trials are currently listed for Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form?

2 specialists and care centers treating Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.