Variegate porphyria

Summary

Variegate porphyria (MONDO:0008297) is a disease caused by PPOX (GenCC Definitive), with 5 cohort genes and 6 clinical trials. Top therapeutic interventions include afamelanotide, hemin, and givosiran.

At a glance

• Prevalence: 1-9 / 1 000 000 (France) [Orphanet-validated]
• Causal gene: PPOX (GenCC Definitive)
• Cohort genes: 5
• ClinVar variants: 77
• Phenotypes (HPO): 48
• Clinical trials: 6

Clinical features

Epidemiology

Prevalence records

22 prevalence record(s), Orphanet, top 20 (validated / broadest geography first):

Type	Class	Value	Geography	Validation
Annual incidence	<1 / 1 000 000	0.012	France	Validated
Annual incidence	<1 / 1 000 000	0.006	Finland	Validated
Annual incidence	<1 / 1 000 000	0.016	Ireland	Validated
Annual incidence	<1 / 1 000 000	0.006	Italy	Validated
Annual incidence	<1 / 1 000 000	0.006	Netherlands	Validated
Annual incidence	<1 / 1 000 000	0.007	Norway	Validated
Annual incidence	<1 / 1 000 000	0.004	Spain	Validated
Annual incidence	<1 / 1 000 000	0.011	Sweden	Validated
Annual incidence	<1 / 1 000 000	0.026	Switzerland	Validated
Annual incidence	<1 / 1 000 000	0.008	United Kingdom	Validated
Point prevalence	1-9 / 1 000 000	0.48	France	Validated
Point prevalence	1-9 / 1 000 000	0.24	Finland	Validated
Point prevalence	1-9 / 1 000 000	0.64	Ireland	Validated
Point prevalence	1-9 / 1 000 000	0.24	Netherlands	Validated
Point prevalence	1-9 / 1 000 000	0.24	Italy	Validated
Point prevalence	1-9 / 1 000 000	0.28	Norway	Validated
Point prevalence	1-9 / 1 000 000	0.16	Spain	Validated
Point prevalence	1-9 / 1 000 000	0.44	Sweden	Validated
Point prevalence	1-9 / 100 000	1.04	Switzerland	Validated
Point prevalence	1-9 / 1 000 000	0.32	United Kingdom	Validated

Signs & symptoms

Clinical features (HPO)

48 HPO clinical features (Orphanet curated; top 48 by frequency):

HPO ID	Term	Frequency
HP:0002027	Abdominal pain	Very frequent (80-99%)
HP:0010472	Abnormal circulating porphyrin concentration	Very frequent (80-99%)
HP:0010473	Porphyrinuria	Very frequent (80-99%)
HP:0012217	Increased urinary porphobilinogen	Very frequent (80-99%)
HP:0012379	Abnormal enzyme/coenzyme activity	Very frequent (80-99%)
HP:0000707	Abnormality of the nervous system	Frequent (30-79%)
HP:0000708	Atypical behavior	Frequent (30-79%)
HP:0000739	Anxiety	Frequent (30-79%)
HP:0000992	Cutaneous photosensitivity	Frequent (30-79%)
HP:0001324	Muscle weakness	Frequent (30-79%)
HP:0002019	Constipation	Frequent (30-79%)
HP:0002273	Tetraparesis	Frequent (30-79%)
HP:0003163	Elevated urinary delta-aminolevulinic acid	Frequent (30-79%)
HP:0003418	Back pain	Frequent (30-79%)
HP:0007178	Motor polyneuropathy	Frequent (30-79%)
HP:0008066	Abnormal blistering of the skin	Frequent (30-79%)
HP:0008997	Proximal muscle weakness in upper limbs	Frequent (30-79%)
HP:0100749	Chest pain	Frequent (30-79%)
HP:0200037	Skin vesicle	Frequent (30-79%)
HP:0200041	Skin erosion	Frequent (30-79%)
HP:0000011	Neurogenic bladder	Occasional (5-29%)
HP:0000822	Hypertension	Occasional (5-29%)
HP:0000953	Hyperpigmentation of the skin	Occasional (5-29%)
HP:0000998	Hypertrichosis	Occasional (5-29%)
HP:0001010	Hypopigmentation of the skin	Occasional (5-29%)
HP:0001056	Milia	Occasional (5-29%)
HP:0001072	Thickened skin	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001265	Hyporeflexia	Occasional (5-29%)
HP:0001347	Hyperreflexia	Occasional (5-29%)
HP:0001649	Tachycardia	Occasional (5-29%)
HP:0002018	Nausea	Occasional (5-29%)
HP:0002203	Respiratory paralysis	Occasional (5-29%)
HP:0002595	Ileus	Occasional (5-29%)
HP:0002902	Hyponatremia	Occasional (5-29%)
HP:0002910	Elevated circulating hepatic transaminase concentration	Occasional (5-29%)
HP:0003474	Somatic sensory dysfunction	Occasional (5-29%)
HP:0011355	Localized skin lesion	Occasional (5-29%)
HP:0012332	Abnormal autonomic nervous system physiology	Occasional (5-29%)
HP:0031218	Inappropriate antidiuretic hormone secretion	Occasional (5-29%)
HP:0100699	Scarring	Occasional (5-29%)
HP:0000738	Hallucinations	Very rare (<1-4%)
HP:0001259	Coma	Very rare (<1-4%)
HP:0001392	Abnormality of the liver	Very rare (<1-4%)
HP:0001402	Hepatocellular carcinoma	Very rare (<1-4%)
HP:0001903	Anemia	Very rare (<1-4%)
HP:0011999	Paranoia	Very rare (<1-4%)
HP:0012622	Chronic kidney disease	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	variegate porphyria
Mondo ID	MONDO:0008297
MeSH	D046350
OMIM	176200
Orphanet	79473
DOID	DOID:4346
ICD-11	1227474618
NCIT	C85219
SNOMED CT	58275005
UMLS	C0162532
MedGen	58118
GARD	0007848
NORD	1821
Is cancer (heuristic)	no

Also known as: porphyria variegate · Protocoproporphyria · protoporphyrinogen oxidase deficiency · variegate porphyria · VP

Data availability: 77 ClinVar variants · 6 GenCC gene-disease records · 1 cell line.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › liver disorder › hepatic porphyria › PPOX-related hepatic porphyria › variegate porphyria

Subtypes (1): variegate porphyria, childhood-onset

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

77 retrieved; paginated sample, class counts are floors:

28 uncertain significance, 15 conflicting classifications of pathogenicity, 11 pathogenic, 7 likely pathogenic, 5 pathogenic/likely pathogenic, 5 benign/likely benign, 3 benign, 1 conflicting classifications of pathogenicity; other, 1 likely benign, 1 conflicting classifications of pathogenicity; other; risk factor

ClinVar	Variant (HGVS)	Gene	Classification	Review
559476	Single allele		Pathogenic	criteria provided, single submitter
2500825	NM_001122764.3(PPOX):c.420del (p.Glu141fs)	B4GALT3	Pathogenic	criteria provided, single submitter
1065637	NM_000410.4(HFE):c.1006+1G>A	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
407079	NM_000410.4(HFE):c.546_547del (p.Leu183fs)	HFE	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1704297	NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr)	PPOX	Pathogenic	no assertion criteria provided
189241	NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer)	PPOX	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
664759	NM_001122764.3(PPOX):c.745dup (p.Val249fs)	PPOX	Pathogenic	criteria provided, multiple submitters, no conflicts
8693	NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg)	PPOX	Pathogenic	criteria provided, single submitter
8694	NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys)	PPOX	Pathogenic/Likely pathogenic	no assertion criteria provided
8695	NM_001122764.3(PPOX):c.59A>C (p.His20Pro)	PPOX	Pathogenic	no assertion criteria provided
8696	NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)	PPOX	Pathogenic	criteria provided, multiple submitters, no conflicts
8697	NM_001122764.3(PPOX):c.503G>A (p.Arg168His)	PPOX	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
8699	NM_001122764.3(PPOX):c.538_539del (p.Ile180fs)	PPOX	Pathogenic	no assertion criteria provided
8700	NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs)	PPOX	Pathogenic	no assertion criteria provided
8702	PPOX, IVS11DS, G-A, -1	PPOX	Pathogenic	no assertion criteria provided
8703	NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr)	PPOX	Pathogenic	no assertion criteria provided
3067865	NM_001122764.3(PPOX):c.87+1G>A	PPOX	Likely pathogenic	criteria provided, single submitter
3362804	NM_001122764.3(PPOX):c.313dup (p.Leu105fs)	PPOX	Likely pathogenic	criteria provided, single submitter
3775017	NM_001122764.3(PPOX):c.1123C>T (p.Gln375Ter)	PPOX	Likely pathogenic	criteria provided, single submitter
4535974	NM_001122764.3(PPOX):c.917T>C (p.Leu306Pro)	PPOX	Likely pathogenic	criteria provided, single submitter
4846908	NM_001122764.3(PPOX):c.362_363del (p.Pro121fs)	PPOX	Likely pathogenic	criteria provided, single submitter
623210	NM_001122764.3(PPOX):c.869-3_869-2del	PPOX	Likely pathogenic	criteria provided, single submitter
976468	NM_001122764.3(PPOX):c.1291+1G>T	PPOX	Likely pathogenic	no assertion criteria provided
1284646	NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)	ABCB6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
68473	NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	ABCB6	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
10	NM_000410.4(HFE):c.187C>G (p.His63Asp)	HFE	Conflicting classifications of pathogenicity; other	criteria provided, conflicting classifications
11	NM_000410.4(HFE):c.193A>T (p.Ser65Cys)	HFE	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE	Conflicting classifications of pathogenicity; other; risk factor	criteria provided, conflicting classifications
1668855	NM_001122764.3(PPOX):c.1296A>G (p.Ser432=)	PPOX	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
293239	NM_001122764.3(PPOX):c.-246G>T	PPOX	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 7 · Orphanet: 15 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
PPOX	Definitive	Semidominant	variegate porphyria	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PPOX	Orphanet:79473	Variegate porphyria
ABCB6	Orphanet:241	Dyschromatosis universalis hereditaria
ABCB6	Orphanet:90044	Familial pseudohyperkalemia
ABCB6	Orphanet:98938	Colobomatous microphthalmia
ABCB6	Orphanet:98942	Coloboma of choroid and retina
ABCB6	Orphanet:98943	Coloboma of eye lens
ABCB6	Orphanet:98944	Coloboma of iris
ABCB6	Orphanet:98945	Coloboma of macula
ABCB6	Orphanet:98946	Coloboma of eyelid
ABCB6	Orphanet:98947	Coloboma of optic disc
HFE	Orphanet:443057	Sporadic porphyria cutanea tarda
HFE	Orphanet:443062	Familial porphyria cutanea tarda
HFE	Orphanet:465508	Symptomatic form of HFE-related hemochromatosis
HFE	Orphanet:586	Cystic fibrosis
HFE	Orphanet:648581	Digenic hemochromatosis

Cohort genes → proteins

5 cohort genes, 4 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	5

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PPOX	HGNC:9280	ENSG00000143224	P50336	Protoporphyrinogen oxidase	gencc,clinvar
ABCB6	HGNC:47	ENSG00000115657	Q9NP58	ATP-binding cassette sub-family B member 6	clinvar
HFE	HGNC:4886	ENSG00000010704	Q30201	Hereditary hemochromatosis protein	clinvar
HFE-AS1	HGNC:55168			HFE antisense RNA 1	clinvar
B4GALT3	HGNC:926	ENSG00000158850	O60512	Beta-1,4-galactosyltransferase 3	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PPOX	Protoporphyrinogen oxidase	Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX.
ABCB6	ATP-binding cassette sub-family B member 6	ATP-dependent transporter that catalyzes the transport of a broad-spectrum of porphyrins from the cytoplasm to the extracellular space through the plasma membrane or into the vesicle lumen.
HFE	Hereditary hemochromatosis protein	Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin.
B4GALT3	Beta-1,4-galactosyltransferase 3	Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.

Protein-family classification

Druggable: 3 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.6

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transporter	1	15.6×	0.251
Antibody/Immunoglobulin	1	5.8×	0.320
Enzyme (other)	1	2.4×	0.471
Other/Unknown	2	0.7×	0.877

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PPOX	Enzyme (other)	yes	1.3.3.4	Amino_oxidase, Protoporphyrinogen_oxidase, FAD/NAD-bd_sf
ABCB6	Transporter	yes		ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC1_TM_dom
HFE	Antibody/Immunoglobulin	yes		MHC_I_a_a1/a2, Ig/MHC_CS, Ig_C1-set
HFE-AS1	Other/Unknown	no
B4GALT3	Other/Unknown	no		Galactosyl_T, Galactosyl_T_C, Galactosyl_T_N

Expression context

Cohort genes with no expression data: 1.

4 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	4
unknown	1

Top tissues across cohort

Tissue	Cohort genes
epithelium of bronchus	1
olfactory segment of nasal mucosa	1
right uterine tube	1
left ovary	1
right hemisphere of cerebellum	1
right ovary	1
olfactory bulb	1
stromal cell of endometrium	1
type B pancreatic cell	1
granulocyte	1
oocyte	1
secondary oocyte	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PPOX	264	ubiquitous	marker	right uterine tube, olfactory segment of nasal mucosa, epithelium of bronchus
ABCB6	140	ubiquitous	marker	right ovary, right hemisphere of cerebellum, left ovary
HFE	238	ubiquitous	marker	type B pancreatic cell, olfactory bulb, stromal cell of endometrium
HFE-AS1
B4GALT3	284	ubiquitous	marker	oocyte, granulocyte, secondary oocyte

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
HFE	1,569
PPOX	1,525
ABCB6	1,480
B4GALT3	1,085
HFE-AS1	0

Intra-cohort edges

A	B	Sources
ABCB6	PPOX	string_interaction

Structural data

PDB: 3 · AlphaFold-only: 1 · No structure: 1

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ABCB6	Q9NP58	16
PPOX	P50336	3
HFE	Q30201	2

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
B4GALT3	O60512	88.72

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 20. Enrichment computed across 5 evidence-associated genes (4 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Defective ABCB6 causes MCOPCB7	1	2855.0×	0.007	ABCB6
Mitochondrial ABC transporters	1	713.8×	0.014	ABCB6
Heme biosynthesis	1	190.3×	0.024	PPOX
N-Glycan antennae elongation	1	190.3×	0.024	B4GALT3
N-glycan antennae elongation in the medial/trans-Golgi	1	142.8×	0.024	B4GALT3
Keratan sulfate/keratin metabolism	1	124.1×	0.024	B4GALT3
ABC transporter disorders	1	109.8×	0.024	ABCB6
Keratan sulfate biosynthesis	1	95.2×	0.024	B4GALT3
Transferrin endocytosis and recycling	1	92.1×	0.024	HFE
Glycosaminoglycan metabolism	1	54.9×	0.036	B4GALT3
Disorders of transmembrane transporters	1	34.8×	0.051	ABCB6
ABC-family protein mediated transport	1	30.4×	0.051	ABCB6
Metabolism of carbohydrates and carbohydrate derivatives	1	30.1×	0.051	B4GALT3
Transport to the Golgi and subsequent modification	1	25.7×	0.055	B4GALT3
Asparagine N-linked glycosylation	1	15.0×	0.087	B4GALT3
Transport of small molecules	1	6.3×	0.187	ABCB6
Post-translational protein modification	1	4.8×	0.227	B4GALT3
Disease	1	3.3×	0.301	ABCB6
Metabolism of proteins	1	3.1×	0.301	B4GALT3
Metabolism	1	2.9×	0.302	B4GALT3

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
porphyrin-containing compound biosynthetic process	2	2106.5×	1e-05	PPOX, ABCB6
intracellular iron ion homeostasis	2	122.1×	0.002	ABCB6, HFE
tetrapyrrole metabolic process	1	4213.0×	0.003	ABCB6
negative regulation of antigen processing and presentation of endogenous peptide antigen via MHC class I	1	4213.0×	0.003	HFE
regulation of iron ion transport	1	2106.5×	0.003	HFE
heme transmembrane transport	1	2106.5×	0.003	ABCB6
glucosylceramide metabolic process	1	1404.3×	0.003	B4GALT3
cellular detoxification of cadmium ion	1	1404.3×	0.003	ABCB6
response to iron ion starvation	1	1404.3×	0.003	HFE
porphyrin-containing compound metabolic process	1	1053.2×	0.003	ABCB6
heme transport	1	1053.2×	0.003	ABCB6
negative regulation of CD8-positive, alpha-beta T cell activation	1	1053.2×	0.003	HFE
galactosylceramide biosynthetic process	1	842.6×	0.004	B4GALT3
heme metabolic process	1	842.6×	0.004	ABCB6
negative regulation of T cell cytokine production	1	601.9×	0.005	HFE
cellular response to iron ion	1	601.9×	0.005	HFE
obsolete protoporphyrinogen IX biosynthetic process	1	421.3×	0.005	PPOX
heme B biosynthetic process	1	421.3×	0.005	PPOX
regulation of protein localization to cell surface	1	421.3×	0.005	HFE
heme A biosynthetic process	1	383.0×	0.005	PPOX
transferrin transport	1	383.0×	0.005	HFE
urate metabolic process	1	383.0×	0.005	HFE
positive regulation of peptide hormone secretion	1	383.0×	0.005	HFE
hormone biosynthetic process	1	351.1×	0.005	HFE
intracellular copper ion homeostasis	1	234.1×	0.007	ABCB6
response to iron ion	1	234.1×	0.007	HFE
melanosome assembly	1	221.7×	0.007	ABCB6
negative regulation of ubiquitin-dependent protein catabolic process	1	210.7×	0.007	HFE
positive regulation of receptor-mediated endocytosis	1	200.6×	0.008	HFE
heme biosynthetic process	1	150.5×	0.010	PPOX

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Afamelanotide, Hemin.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 5

Druggability breadth: 2 of 5 evidence-associated genes (40%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PPOX	0	0
ABCB6	0	0
HFE	0	0
HFE-AS1	0	0
B4GALT3	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PPOX	5	Binding:5
ABCB6	3	Functional:3

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
PPOX	1.3.3.4	protoporphyrinogen oxidase

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	3	PPOX, ABCB6, HFE
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	2	HFE-AS1, B4GALT3

Undrugged target profiles

5 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
PPOX	5	—
ABCB6	3	—
HFE	0	—
HFE-AS1	0	—
B4GALT3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 6.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3
PHASE2	2
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03338816	PHASE3	COMPLETED	ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP)
NCT02922413	PHASE2	TERMINATED	Panhematin for Prevention of Acute Attacks of Porphyria
NCT05854784	PHASE2	COMPLETED	Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Variegate Porphyria (VP)
NCT02935400	Not specified	ACTIVE_NOT_RECRUITING	Acute Porphyria Biomarkers for Disease Activity
NCT01568554	Not specified	COMPLETED	Clinical Diagnosis of Acute Porphyria
NCT03547297	Not specified	TERMINATED	INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
AFAMELANOTIDE	4	1
HEMIN	3	2
GIVOSIRAN	3	1
CHEMBL4303664	0	2
CHEMBL5308479	0	2
HEMATIN	-1	2