United Porphyrias Association

Cycle 3

Web:

https://www.porphyria.org

Contact:

The porphyrias are a group of rare, genetic disorders. ach type of porphyria is caused by a defect in a specific enzyme in the heme biosynthetic pathway. Without these enzymes working properly, the body is not able to finish making heme and it causes a buildup of other compounds, called porphyrins. Types of porphyrias include acute hepatic porphyrias and cutaneous porphyrias.

Last updated 04/30/2026

Clinical

Disease Class

Hematological diseases

Hepatic diseases

Inherited metabolic disorder

Neurological diseases

Body Systems

Metabolic

Organs

Blood

Bone marrow

Brain

Kidneys

Liver

Muscles

Nerves

Skin

Stomach

Known Genetic Link

Yes, one or more genes directly cause the condition

Causative Genes

ALAD

ALAS1

CPOX

FECH

HMBS

PPOX

UROD

UROS

Contributory Genes

None specified / unknown

Type of Inheritance

Autosomal dominant

Autosomal recessive

De novo

Mitochondrial

X-linked dominant

X-linked recessive

Newborn Screening

Disease Mechanism(s)

Heme synthesis defect (porphyrias)

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Prebirth

Average Age at Diagnosis

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Infancy (age 0-1)

Pre-Birth

Life Expectancy

Adulthood (age 18-64)

Elderly (age 65+)

Infancy (age 0-1)

Affected Sex(es)

Female

Intersex

Male

National Prevalence

1001-10000

Global Prevalence

10000+

National Incidence

51-100

Global Incidence

101-1000

Populations and/or ancestry with higher prevalence

Yes, there is a founder effect of different porphyrias - this varies per type.

Symptoms / Phenotypes

abnormal blistering of the skin

abnormal skeletal morphology

abnormality of skin pigmentation

anemia

anxiety

atypical scarring of skin

bone break / fracture

cardiac abnormalities

cognitive impairment / confusion / brain fog

constipation

cutaneous photosensitivity

dark urine

depression

diarrhea

fragile skin

hallucinations

hypertension

hypertrichosis

liver disease

neuropathic pain

pain, abdominal

peripheral neuropathy

thickened skin

vomiting / nausea

Biomarkers

Diagnostic

· porphobiliniogen;aminolevulinic acid;protoporphyrin

Monitoring

· porphobiliniogen;aminolevulinic acid;protoporphyrin; urine porphyrins

Therapeutic

· porphobiliniogen;aminolevulinic acid;protoporphyrin

Existing Therapies

Complementary and Alternative treatments

· hydroxychloriquine; cimetidine; phlebotomy

Regulatory Agency-Approved for Symptom Relief

· Scenesse; Panhematin; Givlaari

Therapies in Development

Gene therapy

Other (please specify)

RNA interference (RNAi) therapy (siRNA, etc.)

Repurposed drug

Small molecule therapy (novel small molecule drugs)

Therapeutic Development Stages

Approved/Available

Awaiting final regulatory decision

IND/CTA submitted but not approved

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Data analysis

Data sharing

Focus group participation or coordination

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Results dissemination (including publications)

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Travel coordination

Organizational & Research

Cell Lines

None

Cell Lines, Institution

None

Cell Lines, share

N/A

Disease Model

None

Disease Model, share

N/A

Organizational Challenges

Unspecified

Clinical Trial Role

Data analysis

Data sharing

Focus group

Funding

Meeting with regulators

Outcome measures, development

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Results dissemination, publication

Study material design, review (not protocol)

Study protocol design, review

Travel coordination

Clinical Trial Types

Observational

Phase 1

Phase 2

Phase 3

Phase 4

Biobank, Institution

None

Center of Excellence, Institution

Atrium Health Wake Forest North Carolina Baptist Hospital

Banner Health

Cleveland Clinic

Massachusetts General Hospital

Mt. Sinai

Thomas Jefferson University Hospital

UTHealth Houston (The University of Texas Health Science Center at Houston)

University of Alabama

University of California San Francisco (UCSF)

University of Illinois Chicago

University of Kentucky

University of Miami

University of Minnesota

University of Missouri

University of Pittsburgh

University of Texas Medical Branch at Galveston

University of Utah

University of Washington

Center of Excellence, Involvement

Endorsed/Certified/Accredited

Funded

Registry

Yes, we have collaborated on a registry

Data Collected, Registry

Clinical data

Electronic health records/electronic medical records

Genetic data

Imaging data

Longitudinal natural history data

Medication usage

Patient contact info

Patient-reported data

Data Entered by, Registry

Clinicians

Platform, Registry

REDCap

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Genetic data

Medication usage

Patient-reported outcomes

Retrospective data

Platform, Natural History Study

REDCap

FDA Patient Listening Session

Yes

FDA Patient-Focused Drug Development (PFDD) Program

Yes

ICD Codes

We use an ICD-10 code capturing the family of diseases to which our disease belongs

We use an ICD-11 code capturing the family of diseases to which our disease belongs

Yes, we have an ICD-10 code specific to our exact disease

Yes, we have an ICD-11 code specific to our exact disease

Diagnostic Guidelines

Yes, we have guidance available on our website

Yes, we have published formal guidelines in a peer-reviewed journal

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Has CRN but no policies

Patient Priority Survey

Yes

Patient Priority Survey, share

Yes, will share

Research Roadmap

We don't have a Research Roadmap

South America

Africa

Europe

North America

South America

Africa

Europe

North America

South America