Hepatoerythropoietic porphyria

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:95159OMIM:176100E80.2
Who is this for?
Show terms as
2Specialists8Treatment centers

Where are you in your journey?

ℹ
UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Also known as:

HEP

Clinical phenotype terms— hover any for plain English:

Red urineHP:0040318Abnormal circulating porphyrin concentrationHP:0010472Increased fecal porphyrinHP:0032999Severe photosensitivityHP:0007537Red-brown urineHP:0040320Corneal ulcerationHP:0012804ScarringHP:0100699ErythrodontiaHP:0030756Nonimmune hydrops fetalisHP:0001790Facial hypertrichosisHP:0002219
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

10 events
Jan 2026Rapid HIV, Hep C, and Syphilis Screening in a Rural Street Medicine Clinic

West Virginia University

TrialNOT YET RECRUITING
Dec 2025A Phase 1/2, Open-Label, Single and Multiple Ascending Dose Study of CRMA-1001 in Adults With Chronic Hepatitis B

nChroma Bio — PHASE1, PHASE2

TrialRECRUITING
Nov 2024Phase 1b, Open-label Study of Tune-401 to Assess Safety, PK and PD in Adults With Chronic Hepatitis B

Tune Therapeutics, Inc. — PHASE1

TrialRECRUITING
Sep 2024Screening, Treatment, and Eradication of Hep C

Liver Institute PLLC

TrialNOT YET RECRUITING
Feb 2024Immune Dynamics in the Natural History of Chronic HBV Infection

Nanfang Hospital, Southern Medical University

TrialRECRUITING
Oct 2023Accelerated Recovery After MIS Hepatectomy (ARAMIS Hep) to Support Early Discharge for Patients Undergoing Minimally Invasive Liver Resection

M.D. Anderson Cancer Center — NA

TrialRECRUITING
Sep 2023Dose-Escalation Prime/Boost Therapeutic Vaccination Study Of 2 Chimp Adenoviral Vectors in Adults With Chronic HBV On Nucleos(t)Ide Therapy

Virion Therapeutics — PHASE1

TrialACTIVE NOT RECRUITING
Jan 2023Quercus Ilex and Quercus Robur Allergen Extracts Standardisation

Inmunotek S.L. — NA

TrialRECRUITING
Sep 2022Efficacy of VTP-300 in Chronic Hepatitis B Infection

Barinthus Biotherapeutics — PHASE2

TrialACTIVE NOT RECRUITING
Oct 2019

SCENESSE®: FDA approved

SCENESSE® is indicated to increase pain free light exposure in adult patients with a history of phototoxic reactions from erythropoietic protoporphyria (EPP)

FDAcompleted

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

Treatments

No FDA-approved treatments are currently listed for Hepatoerythropoietic porphyria.

View clinical trials →

Clinical Trials

View all trials with filters →

No actively recruiting trials found for Hepatoerythropoietic porphyria at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Hepatoerythropoietic porphyria community →

Specialists

2 foundView all specialists →
MM
Manisha C Balwani, MD
NEW YORK, NY
Specialist
PI on 1 active trial
AM
Andrew Muir, MD
IMPERIAL, MO
Specialist
PI on 4 active trials1 Hepatoerythropoietic porphyria publication

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 Hepatoerythropoietic porphyria.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Hepatoerythropoietic porphyriaForum →

No community posts yet. Be the first to share your experience with Hepatoerythropoietic porphyria.

Start the conversation →

Latest news about Hepatoerythropoietic porphyria

Disease timeline:

New recruiting trial: Phase 1b, Open-label Study of Tune-401 to Assess Safety, PK and PD in Adults With Chronic Hepatitis B

A new clinical trial is recruiting patients for Hepatoerythropoietic porphyria

New recruiting trial: Quercus Ilex and Quercus Robur Allergen Extracts Standardisation

A new clinical trial is recruiting patients for Hepatoerythropoietic porphyria

New recruiting trial: Accelerated Recovery After MIS Hepatectomy (ARAMIS Hep) to Support Early Discharge for Patients Undergoing Minimally Invasive Liver Resection

A new clinical trial is recruiting patients for Hepatoerythropoietic porphyria

New recruiting trial: Immune Dynamics in the Natural History of Chronic HBV Infection

A new clinical trial is recruiting patients for Hepatoerythropoietic porphyria

New recruiting trial: A Phase 1/2, Open-Label, Single and Multiple Ascending Dose Study of CRMA-1001 in Adults With Chronic Hepatitis B

A new clinical trial is recruiting patients for Hepatoerythropoietic 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 Hepatoerythropoietic porphyria

Which specialists treat Hepatoerythropoietic porphyria?

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