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ORPHA:746

Mitochondrial trifunctional protein deficiency

low confidenceDisorder

Also known as: TFP deficiency · TFPD

Publications

4,753

Trials

4

Interventional, condition-specific

Researchers

1,288

Distinct authors in sample

Gene link

HADHA, HADHB

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe manifestations including , , , skeletal and , liver disease and death to a mild with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

mitochondrial trifunctional protein 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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — HADHA, HADHB

  2. LiteraturePresent

    4,753 matched papers (3,213 in last 10 years) Source

  3. Phenotype characterisedPresent

    99 HPO annotations (e.g. Hypotonia; Congestive heart failure; Muscle spasm) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. triheptanoin Source

  6. Interventional trialPresent

    4 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 (HADHA, HADHB).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

99

Associated phenotypes · MONDO:0012172

  • Hypotonia
  • Congestive heart failure
  • Muscle spasm
  • Difficulty climbing stairs
  • Diffuse hepatic steatosis

Showing 5 of 99 — 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)

1

Designation · no FDA orphan-indication approval yet

  • EMA triheptanoinTreatment of mitochondrial trifunctional protein deficiency · 28/07/2015 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

3

Drugs / clinical candidates · MONDO_0012172

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,753

4,753 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.

4,753 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).

3,213 in the last 10 years · low confidence

Phrase hits: 274 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,288

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
    Vockley J21 papers · 2026

    University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15238, USA. Electronic address: gerard.vockley@chp.edu.

    Papers in Europe PMC
  2. 02
    Gillingham MB14 papers · 2025

    Department of Pediatrics, Oregon Health and Science University, Portland, OR 97239-3098, USA. gillingm@ohsu.edu <gillingm@ohsu.edu>

    Papers in Europe PMC
  3. 03
    Harding CO11 papers · 2025

    Molecular & Medical Genetics, Oregon Health & Science University, Portland, Oregon.

    Papers in Europe PMC
  4. 04
    Yamaguchi S9 papers · 2017

    Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.

    Papers in Europe PMC
  5. 05
    Kobayashi H8 papers · 2026

    Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.

    Papers in Europe PMC
  6. 06
    Ferdinandusse S7 papers · 2025

    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry and Pediatrics, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

    Papers in Europe PMC
  7. 07
    Grünert SC7 papers · 2026

    Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Centre-University of Freiburg, 79106 Freiburg, Germany.

    Papers in Europe PMC
  8. 08
    Hasegawa Y7 papers · 2020

    Department of Pediatrics, Shimane University Faculty of Medicine, Shimane, Japan.

    Papers in Europe PMC
  9. 09
    Pennesi ME7 papers · 2025

    Casey Eye Institute, Oregon Health & Science University, Portland, Oregon. Electronic address: pennesim@ohsu.edu.

    Papers in Europe PMC
  10. 10
    Spiekerkoetter U7 papers · 2024

    Department of General Pediatrics, University Children's Hospital, Duesseldorf, Germany. ute.spiekerkoetter@uni-duesseldorf.de

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

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

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

low confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 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.

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.

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 2026-07-29

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 Mitochondrial trifunctional protein 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.

("Mitochondrial trifunctional protein deficiency" OR "TFP deficiency") OR ("HADHA" OR "HADHA syndrome" OR "HADHA-related" OR "HADHB" OR "HADHB syndrome" OR "HADHB-related")

Run this search on Europe PMC

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

"Mitochondrial trifunctional protein deficiency" OR "TFP deficiency"

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

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: TFPD

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
  • Publication count (4753) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:09:24.781Z