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ORPHA:868

Triose phosphate-isomerase deficiency

low confidenceDisorder

Publications

13,758

Trials

0

Interventional, condition-specific

Researchers

803

Distinct authors in sample

Gene link

TPI1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Triosephosphate isomerase (TPI) deficiency is a severe inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

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 (4)

hemolytic anaemia due to triosephosphate isomerase deficiency · hemolytic anemia due to triosephosphate isomerase deficiency · triose phosphate-isomerase deficiency · triosephosphate isomerase deficiency

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — TPI1

  2. LiteraturePresent

    13,758 matched papers (8,131 in last 10 years) Source

  3. Phenotype characterisedPresent

    40 HPO annotations (e.g. Hypotonia; Hypertrophic cardiomyopathy; Diaphragmatic paralysis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (TPI1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

40

Associated phenotypes · MONDO:0014221

  • Hypotonia
  • Hypertrophic cardiomyopathy
  • Diaphragmatic paralysis
  • Central nervous system degeneration
  • Decreased nerve conduction velocity

Showing 5 of 40 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

13,758

13,758 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

13,758 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).

8,131 in the last 10 years · low confidence

Phrase hits: 194 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

803

Distinct author names in 194 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Palladino MJ11 papers · 2026

    Department of Pharmacology & Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA; Pittsburgh Institute for Neurodegenerative Diseases (PIND), University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA. Electronic address: mjp44@pitt.edu.

    Papers in Europe PMC
  2. 02
    Beutler E6 papers · 2000

    Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, CA 92037.

    Papers in Europe PMC
  3. 03
    Hollán S6 papers · 2005

    National Institute of Hematology and Immunology, H-1113 Budapest, Hungary.

    Papers in Europe PMC
  4. 04
    Maquat LE6 papers · 1993
    Papers in Europe PMC
  5. 05
    Orosz F6 papers · 2011

    Institute of Enzymology, Hungarian Academy of Sciences, Budapest, Hungary.

    Papers in Europe PMC
  6. 06
    Ovádi J6 papers · 2011
    Papers in Europe PMC
  7. 07
    VALENTINE WN6 papers · 1976
    Papers in Europe PMC
  8. 08
    Barcellini W5 papers · 2021

    UOS Fisiopatologia delle Anemie, UOC Ematologia, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Horányi M5 papers · 2005
    Papers in Europe PMC
  10. 10
    Myers TD5 papers · 2024

    Department of Pharmacology and Chemical Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-29

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 Triose phosphate-isomerase 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.

("Triose phosphate-isomerase deficiency" OR "hemolytic anaemia due to triosephosphate isomerase deficiency" OR "hemolytic anemia due to triosephosphate isomerase deficiency" OR "triosephosphate isomerase deficiency") OR ("TPI1" OR "TPI1 syndrome" OR "TPI1-related")

Run this search on Europe PMC

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

"Triose phosphate-isomerase deficiency" OR "hemolytic anaemia due to triosephosphate isomerase deficiency" OR "hemolytic anemia due to triosephosphate isomerase deficiency" OR "triosephosphate isomerase deficiency"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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 (13758) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T15:41:49.710Z