Ectodermal dysplasia syndrome

Last reviewed March 21, 2026

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ORPHA:79373

Who is this for?

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3Active trials 13Specialists 8Treatment centers

Where are you in your journey?

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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:

Ectodermal dysplasia

Orphanet ↗NORD ↗

FDA & Trial Timeline

3 events

Feb 2026Organization's Unique Protocol ID

Cairo University — NA

TrialRECRUITING

Jul 2023Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study

Pierre Fabre Medicament

TrialACTIVE NOT RECRUITING

Apr 2022Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia

EspeRare Foundation — PHASE2

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Ectodermal dysplasia syndrome.

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

View clinical trials →

Clinical Trials

3 recruitingView all trials with filters →

Phase 21 trial

Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia

Phase 2

Actively Recruiting

PI: Holm Schneider, MD (University Erlangen-Nürnberg Erlangen, Germany) · Sites: Los Angeles, California; St Louis, Missouri +6 more · Age: 18–99 yrs

N/A1 trial

Organization's Unique Protocol ID

N/A

Actively Recruiting

· Sites: Cairo · Age: 10–35 yrs

Other1 trial

Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study

Active

PI: Marlène Guiraud (Pierre Fabre Médicament) · Sites: Paris; Erlangen · Age: 0–11 yrs

Specialists

13 foundView all specialists →

DM

Dorothy K Grange, MD

SAINT LOUIS, MO

Specialist

Hypohidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia

PI on 6 active trials

Active trials Directions Travel grants

HM

Holm Schneider, MD

Specialist

Hypohidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia

PI on 5 active trials

Active trials Directions Travel grants

IM

Ignatia B Van den Veyver, MD

Specialist

Aicardi syndrome Complete hydatidiform mole Focal dermal hypoplasia+3 more

PI on 3 active trials1 Ectodermal dysplasia syndrome publication

Active trials Directions Travel grants

AM

Amy Paller, MD

CHICAGO, IL

Specialist

Anterior cutaneous nerve entrapment syndrome Autosomal anomaly syndrome Autosomal ichthyosis syndrome+7 more

PI on 7 active trials

Active trials Directions Travel grants

KP

Kenneth Huttner, MD, PhD

WALTHAM, MA

Specialist

Hypohidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia

PI on 2 active trials

Active trials Directions Travel grants

MM

Maegan E Roberts, MS

OCEANSIDE, CA

Specialist

Blepharo-cheilo-odontic syndrome Cleft lip/palate-ectodermal dysplasia syndrome

PI on 1 active trial

Active trials Directions Travel grants

MP

Maria Lourdes Posadas Martinez, PhD

Specialist

Adrenogenital syndrome Autoimmune lymphoproliferative syndrome Congenital adrenal hyperplasia+61 more

PI on 1 active trial

Active trials Directions Travel grants

MP

Marcelo Serra, PhD

Buenos Aires, Buenos Aires

Specialist

Rare Disease Specialist

Adrenogenital syndrome Autoimmune lymphoproliferative syndrome Congenital adrenal hyperplasia+62 more

PI on 1 active trial

Active trials Directions Travel grants

SM

Soledad Kleppe, MD

Specialist

Adrenogenital syndrome Autoimmune lymphoproliferative syndrome Congenital adrenal hyperplasia+62 more

PI on 1 active trial

Active trials Directions Travel grants

CB

Christine BODEMER

Bobigny

Specialist

Rare Disease Specialist

Benign peripheral nerve sheath tumor Bullous pemphigoid Genetic pigmentation anomaly of the skin+12 more

PI on 2 active trials

Active trials Directions Travel grants

AP

Antoni Gostynski, MD, PhD

Maastricht, Limburg

Specialist

Rare Disease Specialist

Genetic hypopigmentation of the skin Gorlin syndrome Hereditary palmoplantar keratoderma+3 more

PI on 2 active trials

Active trials Directions Travel grants

RM

Ramsey Johnson, MSM

Specialist

Hypohidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia

PI on 1 active trial

Active trials Directions Travel grants

SP

Steven Isakoff, MD, PhD

BOSTON, MA

Specialist

Cleft lip/palate-ectodermal dysplasia syndrome Ectrodactyly-cleft palate syndrome

PI on 1 active trial

Active trials Directions Travel grants

Treatment Centers

8 centers

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Ectodermal dysplasia syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Ectodermal dysplasia syndrome

Disease timeline:

New recruiting trial: A Study Evaluating the Safety and Pharmacokinetics of QTORIN Rapamycin 3.9% Anhydrous Gel in the Treatment of Adults With Pachyonychia Congenita

A new clinical trial is recruiting patients for Ectodermal dysplasia syndrome

New recruiting trial: International Pachyonychia Congenita Research Registry

A new clinical trial is recruiting patients for Ectodermal dysplasia syndrome

New recruiting trial: Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia

A new clinical trial is recruiting patients for Ectodermal dysplasia syndrome

New recruiting trial: Organization's Unique Protocol ID

A new clinical trial is recruiting patients for Ectodermal dysplasia syndrome

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 Ectodermal dysplasia syndrome

Are there clinical trials for Ectodermal dysplasia syndrome?

Yes — 3 recruiting clinical trials are currently listed for Ectodermal dysplasia syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Ectodermal dysplasia syndrome?

13 specialists and care centers treating Ectodermal dysplasia syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.