ORPHA:443197
X-linked erythropoietic protoporphyria
Also known as: X-linked dominant erythropoietic protoporphyria · X-linked dominant protoporphyria · XLDPP · XLPP
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
188
70.4th percentile
Trials
2
Interventional, condition-specific
Researchers
856
Distinct authors in sample
Gene link
ALAS2
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010420
- MeSH:C567464
- OMIM:300752
- UMLS:C2677889
Additional Mondo synonyms (2)
ALAS2-related erythropoietic protoporphyria · erythropoietic protoporphyria, X-linked
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ALAS2
- LiteraturePresent
188 matched papers (127 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (ALAS2).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
188
188 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
188 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
127 in the last 10 years · medium confidence · 70.4th percentile (publications denominator)
Phrase hits: 188 · MeSH hits: 0
Who's working on it?
856
Distinct author names in 188 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Anderson KE15 papers · 2026
Department of Preventive Medicine and Community Health, The University of Texas Medical Branch, Galveston, Texas.
Papers in Europe PMC - 02Balwani M15 papers · 2025
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.
Papers in Europe PMC - 03Puy H15 papers · 2022
Assistance Publique-Hôpitaux de Paris, Centre Français des Porphyries, Hôpital Louis Mourier , 178 rue des Renouillers, 92701 Colombes Cedex, France.
Papers in Europe PMC - 04Desnick RJ14 papers · 2022
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address: Robert.Desnick@mssm.edu.
Papers in Europe PMC - 05Gouya L14 papers · 2022
Assistance Publique-Hôpitaux de Paris, Centre Français des Porphyries, Hôpital Louis Mourier , 178 rue des Renouillers, 92701 Colombes Cedex, France.
Papers in Europe PMC - 06Naik H13 papers · 2025
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York.
Papers in Europe PMC - 07Ferreira GC12 papers · 2025
Department of Molecular Medicine, Morsani College of Medicine, University of South Florida , Tampa, Florida 33612, United States.
Papers in Europe PMC - 08Bonkovsky HL11 papers · 2025
Department of Internal Medicine, Section on Gastroenterology.
Papers in Europe PMC - 09Deybach JC11 papers · 2015
Assistance Publique-Hôpitaux de Paris, Centre Français des Porphyries, Hôpital Louis Mourier , 178 rue des Renouillers, 92701 Colombes Cedex, France.
Papers in Europe PMC - 10Ducamp S8 papers · 2025
Assistance Publique-Hôpitaux de Paris, Centre Français des Porphyries, Hôpital Louis Mourier , 178 rue des Renouillers, 92701 Colombes Cedex, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 21 trials are registered for erythropoietic protoporphyria, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: erythropoietic protoporphyria
21
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT05005975·RECRUITING·Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP)
Conditions: EPP · XLP·Matched via name phrase
- NCT06971900·ENROLLING BY INVITATION·GATEWAY: A Phase 2a Study of PORT-77 in Adults With Erythropoietic Protoporphyria
Conditions: Erythropoietic Protoporphyria (EPP)·Matched via name phrase
- NCT05883748·ENROLLING BY INVITATION·HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLP
Conditions: Erythropoietic Protoporphyria·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"X-linked erythropoietic protoporphyria" OR "X-linked dominant erythropoietic protoporphyria" OR "X-linked dominant protoporphyria" OR "XLDPP" OR "ALAS2-related erythropoietic protoporphyria" OR "erythropoietic protoporphyria, X-linked"
MeSH descriptor terms unioned into the query: Protoporphyria, Erythropoietic, X-Linked Dominant
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked erythropoietic protoporphyria" OR "X-linked dominant erythropoietic protoporphyria" OR "X-linked dominant protoporphyria" OR "XLDPP" OR "ALAS2-related erythropoietic protoporphyria" OR "erythropoietic protoporphyria, X-linked" OR "Protoporphyria, Erythropoietic, X-Linked Dominant" OR "ALAS2"
Recall-expansion terms: ALAS2
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"erythropoietic protoporphyria"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XLPP
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T16:26:09.465Z