RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:79276

Acute intermittent porphyria

low confidenceDisorder

Publications

4,019

Trials

9

Interventional, condition-specific

Researchers

972

Distinct authors in sample

Gene link

HMBS

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

acute intermittent porphyria

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.

  1. Gene identifiedPresent

    Definitive — HMBS

  2. LiteraturePresent

    4,019 matched papers (1,421 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    9 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (HMBS).

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?

4,019

4,019 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

4,019 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).

1,421 in the last 10 years · low confidence

Phrase hits: 4,018 · MeSH hits: 7

Open Europe PMC search

Who's working on it?

972

Distinct author names in 200 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.

  1. 01
    Aucella F7 papers · 2024

    Interregional Reference Center for Porphyria, 71013 San Giovanni Rotondo, Italy.

    Papers in Europe PMC
  2. 02
    Di Pierro E7 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

    Papers in Europe PMC
  3. 03
    Bonkovsky HL6 papers · 2026

    Division of Gastroenterology and Hepatology, Wake Forest University School of Medicine/NC Baptist Hospital, Winston-Salem, NC, USA.

    Papers in Europe PMC
  4. 04
    Sardh E6 papers · 2026

    Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden.

    Papers in Europe PMC
  5. 05
    Anderson KE5 papers · 2025

    Division of Gastroenterology and Hepatology, Department of Internal Medicine, University of Texas Medical Branch, Galveston, Texas, USA.

    Papers in Europe PMC
  6. 06
    Schmitt C5 papers · 2026

    Department of Medical Biochemistry, Université Paris Cité and INSERM U1149, Centre de Recherche sur l'Inflammation, Paris, France.

    Papers in Europe PMC
  7. 07
    Yang J5 papers · 2026

    Department of Endocrinology,The First Hospital of Shanxi Medical University,Taiyuan 030001,China.

    Papers in Europe PMC
  8. 08
    Aarsand AK4 papers · 2026

    Norwegian Porphyria Centre and Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.

    Papers in Europe PMC
  9. 09
    Balwani M4 papers · 2026

    The Porphyrias Consortium, New York, New York, USA.

    Papers in Europe PMC
  10. 10
    Gouya L4 papers · 2025

    Laboratory of Excellence Gr-Ex, F-75015 Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

9 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

9 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.2th percentile).

low confidence · 91.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

9 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

7 observational studies match 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

Directly listed under NPRD Group 2.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Acute intermittent porphyria"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Porphyria, Acute Intermittent

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Acute intermittent porphyria" OR "Porphyria, Acute Intermittent" OR "HMBS"

Recall-expansion terms: HMBS

Interventional trials matched via: both, 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: 9 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4019) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:11:29.813Z