Congenital erythropoietic porphyria | UniteRare Disease Library

Overview

Also known as:

Clinical phenotype terms— hover any for plain English:

Severe photosensitivityHP:0007537Red-brown urineHP:0040320Corneal ulcerationHP:0012804ScarringHP:0100699ErythrodontiaHP:0030756Nonimmune hydrops fetalisHP:0001790Facial hypertrichosisHP:0002219Increased fecal coproporphyrin 1HP:0033009AnisocytosisHP:0011273PoikilocytosisHP:0004447

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

8 events

Jan 2026A Study to Investigate the Improvement of Photosensitivity in Terms of Skin Lesions Associated With CEP Following Administration of Oral ATL-001 (Ciclopirox Oral Solution) in Participants Aged >18 Years of Age With CEP

Atlas Molecular Pharma — PHASE1, PHASE2

TrialRECRUITING

Jul 2025Efficacy Of Erythromycin Phonophoresis on Chronic Rhinosinusitis

Cairo University — NA

TrialNOT YET RECRUITING

Jun 2025Post-Market Celect Platinum Vena Cava Filter and Gunther Tulip Retrieval Set Study

Cook Research Incorporated

TrialRECRUITING

Apr 2025Clinical Feasibility and Evaluation Study of POINT-GUARD Embolic Protection Device During TAVR (GUARDIAN)

Transverse Medical, Inc. — NA

TrialRECRUITING

Sep 2024Clinical Observations of Pain and Pruritus Induced by Exposure to Allergic Contact Dermatitis Caused by Macrolides

Affiliated Hospital of Nantong University

TrialNOT YET RECRUITING

Mar 2024Erythromycin Versus Azithromycin for Preterm Prelabor Rupture of Membranes

Inova Health Care Services — PHASE3

TrialRECRUITING

Apr 2023The Efficacy and Safety of Nanoparticle Albumin-bound (NAB)-Paclitaxel Plus Cisolation Versus CEP (Cisplatin, Epirubicin,Cyclophosphamide) in Induction Therapy for Thymoma: a Study for a Single-center Prospective Phase II Randomized Controlled Train.

Peng Liu — PHASE2

TrialNOT YET RECRUITING

Mar 2014The Effect of Motilin on the Frequency and Amount of Food Intake

Universitaire Ziekenhuizen KU Leuven — PHASE4

TrialENROLLING BY INVITATION

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

Treatments

No FDA-approved treatments are currently listed for Congenital erythropoietic porphyria.

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

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →

Specialists

Showing 25 of 39View all specialists →

Tzeon-Jye Chiou

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Yu-Chen Huang

DURHAM, NC

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Marie-Pier Desjardins

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Angelika L Erwin

CLEVELAND, OH

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Barthélémy Tosello

Specialist

2 Congenital erythropoietic porphyria publications

Directions Travel grants

Paula Aguilera

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Robert J Desnick

NEW YORK, NY

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Alba Álvarez-Abella

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Andrea Núñez-Conde

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Marco A Alba

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Ya-Wen Hsiao

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Antoine Poli

WELLESLEY, MA

Specialist

2 Congenital erythropoietic porphyria publications

Directions Travel grants

Jordi To-Figueras

Specialist

1 Congenital erythropoietic porphyria publication

Directions Travel grants

Karl E Anderson, MD

Specialist

Acute hepatic porphyria Disorder of porphyrin and heme metabolism Erythropoietic porphyria+8 more

PI on 3 active trials

Active trials Directions Travel grants

Eliane Sardh, MD PhD

Specialist

Acute hepatic porphyria Disorder of porphyrin and heme metabolism Erythropoietic porphyria+2 more

PI on 1 active trial

Active trials Directions Travel grants

Karl E Anderson

Specialist

Acute hepatic porphyria Disorder of porphyrin and heme metabolism Erythropoietic porphyria+4 more

PI on 2 active trials

Active trials Directions Travel grants

Amy K Dickey, MD

Specialist

Disorder of porphyrin and heme metabolism Erythropoietic porphyria Hepatic porphyria+2 more

PI on 1 active trial1 Congenital erythropoietic porphyria publication

Active trials Directions Travel grants

Manisha Balwani, MD

NEW YORK, NY

Specialist

Disorder of porphyrin and heme metabolism Erythropoietic porphyria Hepatic cutaneous porphyria+3 more

PI on 1 active trial

Active trials Directions Travel grants

Pilar Bilbao

Specialist

Disorder of porphyrin and heme metabolism Erythropoietic porphyria Hepatic porphyria+1 more

PI on 1 active trial

Active trials Directions Travel grants

Nader Najafian, MD

BOSTON, MA

Specialist

Acute hepatic porphyria Atypical hemolytic uremic syndrome Disorder of porphyrin and heme metabolism+5 more

PI on 3 active trials

Active trials Directions Travel grants

Sean Rudnick, MD

CHARLOTTE, NC

Specialist

Disorder of porphyrin and heme metabolism Erythropoietic porphyria Hepatic porphyria+2 more

PI on 1 active trial

Active trials Directions Travel grants

Will Savage, MD PhD

Specialist

Autosomal erythropoietic protoporphyria Disorder of porphyrin and heme metabolism Erythropoietic porphyria+4 more

PI on 4 active trials

Active trials Directions Travel grants

Christer Andersson, MD

Specialist

Acute hepatic porphyria Disorder of porphyrin and heme metabolism Erythropoietic porphyria+2 more

PI on 1 active trial

Active trials Directions Travel grants

Karl Anderson, MD

Specialist

Disorder of porphyrin and heme metabolism Erythropoietic porphyria Hepatic porphyria+2 more

PI on 1 active trial

Active trials Directions Travel grants

Dr. Yolandi Swart, FCPHM(SA)

Specialist

Acute hepatic porphyria Disorder of porphyrin and heme metabolism Erythropoietic porphyria+2 more

PI on 1 active trial

Active trials Directions Travel grants

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 Congenital erythropoietic porphyria.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Congenital erythropoietic porphyria

Disease timeline:

New recruiting trial: Post-Market Celect Platinum Vena Cava Filter and Gunther Tulip Retrieval Set Study

A new clinical trial is recruiting patients for Congenital erythropoietic porphyria

New recruiting trial: NIV for Hypercapnic Respiratory Failure: AVAPS vs S/T BIPAP

A new clinical trial is recruiting patients for Congenital erythropoietic porphyria

New recruiting trial: Erythromycin Versus Azithromycin for Preterm Prelabor Rupture of Membranes

A new clinical trial is recruiting patients for Congenital erythropoietic porphyria

New recruiting trial: Clinical Feasibility and Evaluation Study of POINT-GUARD Embolic Protection Device During TAVR (GUARDIAN)

A new clinical trial is recruiting patients for Congenital erythropoietic porphyria

New recruiting trial: A Study to Investigate the Improvement of Photosensitivity in Terms of Skin Lesions Associated With CEP Following Administration of Oral ATL-001 (Ciclopirox Oral Solution) in Participants Aged >18 Years of Age With CEP

A new clinical trial is recruiting patients for Congenital erythropoietic porphyria

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 Congenital erythropoietic porphyria

Are there clinical trials for Congenital erythropoietic porphyria?

Yes — 1 recruiting clinical trial is currently listed for Congenital erythropoietic porphyria on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Congenital erythropoietic porphyria?

25 specialists and care centers treating Congenital erythropoietic porphyria are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.