ORPHA:100924

Porphyria due to ALA dehydratase deficiency

low confidenceDisorder

Also known as: ALAD porphyria · Porphyria due to ALAD deficiency · Porphyria due to delta-aminolevulinate dehydratase deficiency · Porphyria of Doss

Publications

4,130

Trials

Interventional, condition-specific

Researchers

827

Distinct authors in sample

Gene link

ALAD

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare acute hepatic porphyria characterized by neurovisceral attacks without skin 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.

MONDO:0013000
MeSH:C562618
OMIM:612740
UMLS:C0268328
NCIT:C133887

Additional Mondo synonyms (7)

ALAD Porphyria · ALAD-related hepatic porphyria · ALAD-related porphyria · acute hepatic porphyria · porphyria due to ALAD deficiency · porphyria due to delta-aminolevulinate dehydratase deficiency · porphyria of Doss

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

Gene identifiedPresent
Strong — ALAD
LiteraturePresent
4,130 matched papers (2,390 in last 10 years) Source
Phenotype characterisedPresent
52 HPO annotations (e.g. Agitation; Episodic vomiting; Constipation) Source
Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
Orphan designationPartial
1 FDA · 1 EMA designations (none yet with FDA orphan-indication approval) — e.g. synthetic double-stranded siRNA oligonucleotide directed against delta-aminolevulinic acid synthase 1 mRNA, covalently linked to a ligand containing three N-acetylgalactosamine residues (givosiran) Source
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 (ALAD).

GenCC classification: Strong.

ALAD

Phenotypes (Monarch / HPO)

Associated phenotypes · MONDO:0013000

Agitation
Episodic vomiting
Constipation
Diarrhea
Myeloproliferative disorder

Showing 5 of 52 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

Designations · no FDA orphan-indication approval yet

EMA synthetic double-stranded siRNA oligonucleotide directed against delta-aminolevulinic acid synthase 1 mRNA, covalently linked to a ligand containing three N-acetylgalactosamine residues (givosiran) (Givlaari)Treatment of acute hepatic porphyria · 29/08/2016 · PositiveEMA designation
FDA givosiran (GIVLAARI)Acute hepatic porphyria · 2016-08-29

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,130

4,130 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=3967) is 59.

4,130 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,390 in the last 10 years · low confidence

Phrase hits: 1,024 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

827

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.

01
Meninger S11 papers · 2025
Alnylam Pharmaceuticals , Cambridge, MA
Papers in Europe PMC
02
Sardh E11 papers · 2024
From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).
Papers in Europe PMC
03
Anderson KE10 papers · 2026
From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).
Papers in Europe PMC
04
Bonkovsky HL10 papers · 2026
From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).
Papers in Europe PMC
05
Wang B9 papers · 2025
From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).
Papers in Europe PMC
06
Balwani M8 papers · 2025
From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).
Papers in Europe PMC
07
Sweetser MT8 papers · 2024
From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).
Papers in Europe PMC
08
Ventura P8 papers · 2023
From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).
Papers in Europe PMC
09
Vassiliou D7 papers · 2023
From the Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York (M.B.); Porphyria Center Sweden, Center for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm (E.S., P.H., D.V.); the Department of Surgical and Medical Sciences for Children and Adults, Internal Medicine Unit, University of Modena and Reggio Emilia, Modena, Italy (P.V.); Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona (P.A.P.); King's College London, King's College Hospital, London (D.C.R., P.E.S.); Klinikum Chemnitz, Chemnitz, Germany (U.S.); the Liver Center and Porphyria Center, University of California, San Francisco, San Francisco (D.M.B., B.W.); the Section on Gastroenterology and Hepatology, Wake Forest University-North Carolina Baptist Medical Center, Winston-Salem (H.L.B.); the Department of Hemostatic Disorders and Internal Medicine, Institute of Hematology and Transfusion Medicine, Warsaw, Poland (J.W.); the University of Texas Medical Branch, Galveston (K.E.A.); the University of Utah, Salt Lake City (C. Parker, J.P.); the University of Michigan, Ann Arbor (S.M.S.); the Department of Medicine, Division of Hematology, University of Washington, Seattle (S.B.K.); the Center for Rare Disease and Hemophilia, Taichung Veterans General Hospital, Taichung, Taiwan (J.-D.W.); St. Ivan Rilski University Hospital, Sofia, Bulgaria (A.I.); Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus Medical Center, University Medical Center Rotterdam, Rotterdam, the Netherlands (J.G.L.); the Department of Medicine, University Hospital of Helsinki, Helsinki, Finland (R.K.); Stadtspital Triemli, Zentrallabor, Zurich, Switzerland (E.M.); Tottori University School of Medicine, Tottori, Japan (Y.H.); Alnylam Pharmaceuticals, Cambridge, MA (C. Penz, J.C., S.L., J.J.K., M.T.S., P.G., A.V., J.B.K., A.R.S.); and the University of Paris and the Laboratory of Excellence GR-Ex, Paris, and Centre de Référence Maladies Rares Porphyries, Assistance Publique-Hôpitaux de Paris, Colombes - all in France (L.G.).
Papers in Europe PMC
10
Aucella F6 papers · 2024
Scientific Institut for Research and Health Care, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Papers in Europe PMC

Clinical research

Is a treatment being tested?

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 19 trials are registered for porphyria, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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: porphyria

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

NCT07024316·RECRUITING·A Study to Investigate the Improvement of Photosensitivity in Terms of Skin Lesions Associated With CEP Following Administration of Oral ATL-001 (Ciclopirox Oral Solution) in Participants Aged >18 Years of Age With CEP
Not reviewed·Conditions: Congenital Erythropoietic Porphyria (CEP)·Matched via name phrase
NCT06273644·RECRUITING·Clinical Research on Acute Intermittent Porphyria and the Use of Carbohydrate-Rich Diet as a Treatment
Not reviewed·Conditions: Porphyria, Acute Intermittent·Matched via name phrase

Observational and natural-history studies

6 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

NCT04883905·RECRUITING·ELEVATE, a Registry of Patients With Acute Hepatic Porphyria (AHP)
Not reviewed·Conditions: Acute Hepatic Porphyria·Matched via name phrase

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Porphyria due to ALA dehydratase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Porphyria due to ALA dehydratase deficiency" OR "ALAD porphyria" OR "Porphyria due to ALAD deficiency" OR "Porphyria due to delta-aminolevulinate dehydratase deficiency" OR "Porphyria of Doss" OR "Porphyria of the Doss" OR "ALAD-related hepatic porphyria" OR "ALAD-related porphyria" OR "acute hepatic porphyria") OR (MESH:"Porphyria, Acute Hepatic") OR ("ALAD" OR "ALAD syndrome" OR "ALAD-related")

Run this search on Europe PMC

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

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

"Porphyria due to ALA dehydratase deficiency" OR "ALAD porphyria" OR "Porphyria due to ALAD deficiency" OR "Porphyria due to delta-aminolevulinate dehydratase deficiency" OR "Porphyria of Doss" OR "Porphyria of the Doss" OR "ALAD-related hepatic porphyria" OR "ALAD-related porphyria" OR "acute hepatic porphyria" OR "Porphyria, Acute Hepatic"

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 · 6 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"porphyria"

Query health: ok — strategies attempted: phrase, mesh; 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 (4130) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:07:14.345Z