Autosomal erythropoietic protoporphyria

Last reviewed March 21, 2026

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ORPHA:79278OMIM:177000E80.0

Who is this for?

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1Active trials 8Specialists 8Treatment centers

Where are you in your journey?

ℹ

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:

Microcytic anemiaHP:0001935Abnormal circulating porphyrin concentrationHP:0010472

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

4 events

Jul 2024Entire Papilla Preservation and Conventional Flap Surgery in Treating Intrabony Defects: A 6-Month Clinical Trial

Necmettin Erbakan University

TrialACTIVE NOT RECRUITING

Dec 2023INcreased Sun Exposure Without Pain In Research Participants With EPP or XLP

Tanabe Pharma America, Inc. — PHASE3

TrialACTIVE NOT RECRUITING

Aug 2023HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLP

Disc Medicine, Inc — PHASE2, PHASE3

TrialENROLLING BY INVITATION

Aug 2021Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)

Tanabe Pharma America, Inc. — PHASE3

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Autosomal erythropoietic protoporphyria.

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

8 foundView all specialists →

WP

Will Savage, MD PhD

Specialist

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

PI on 4 active trials

Active trials Directions Travel grants

KM

Karthik Ravi, MD

ROCHESTER, MN

Specialist

Eosinophilic gastroenteritis Idiopathic achalasia

PI on 6 active trials

Active trials Directions Travel grants

MM

Micheline Mary Mathews-Roth

Specialist

PI on 1 active trial

Active trials Directions Travel grants

HW

Hans C Wulf

Specialist

PI on 1 active trial

Active trials Directions Travel grants

MM

Micheline M Mathews-Roth

Specialist

PI on 1 active trial

Active trials Directions Travel grants

AA

Alex Anstey

Specialist

PI on 1 active trial

Active trials Directions Travel grants

RD

Robert Desnick

NEW YORK, NY

Specialist

PI on 2 active trials

Active trials Directions Travel grants

HB

Herbert Bonkovsky

WINSTON SALEM, NC

Specialist

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 Autosomal erythropoietic protoporphyria.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Autosomal erythropoietic protoporphyria

Disease timeline:

New recruiting trial: Study of Bitopertin in Participants With EPP or XLP (APOLLO)

A new clinical trial is recruiting patients for Autosomal erythropoietic protoporphyria

New recruiting trial: Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)

A new clinical trial is recruiting patients for Autosomal erythropoietic protoporphyria

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 erythropoietic protoporphyria

Are there clinical trials for Autosomal erythropoietic protoporphyria?

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

Which specialists treat Autosomal erythropoietic protoporphyria?

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