ORPHA:692296
Idiopathic triglyceride deposit cardiomyovasculopathy
Also known as: I-TGCV · Idiopathic neutral lipid storage disease with severe cardiovascular involvement
Publications
9
Trials
1
Interventional, condition-specific
Researchers
70
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
9 matched papers (9 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
1 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
9
9 papers have ever been indexed 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.
9 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).
9 in the last 10 years · low confidence
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
70
Distinct author names in 9 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.
- 01Hirano KI8 papers · 2026
Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka, 565-0874, Japan. khirano@cnt-osaka.com.
Papers in Europe PMC - 02Ikeda Y8 papers · 2026
Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka, 565-0874, Japan.
Papers in Europe PMC - 03Miyauchi H7 papers · 2026
Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, 1-8-1, Inohara, Chuo-ku, Chiba, 260-8670, Japan.
Papers in Europe PMC - 04Kobayashi K6 papers · 2026
Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, 1-1-1, Zokumyoin, Chikushino, Fukuoka, 818-8502, Japan.
Papers in Europe PMC - 05Amano T4 papers · 2026
Department of Cardiology, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Papers in Europe PMC - 06Nakano Y4 papers · 2026
Department of Cardiology, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Papers in Europe PMC - 07Shimada K4 papers · 2023
Department of Cardiovascular Medicine, Juntendo University Graduate School of Medicine, 2-1-1, Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan.
Papers in Europe PMC - 08Fujimoto S3 papers · 2026
Department of Cardiovascular Biology and Medicine, Juntendo University Graduate School of Medicine, Hongo, Bunkyo-ku, Tokyo, Japan.
Papers in Europe PMC - 09Hao H3 papers · 2024
Department of Pathology, Nihon University School of Medicine, 30-1 Ohyaguchikami-cho, Itabashi-ku, Tokyo, 173-8610, Japan.
Papers in Europe PMC - 10Hashimoto C3 papers · 2020
Laboratory of Cardiovascular Disease, Novel, Non-invasive, and Nutritional Therapeutics and Triglyceride Research Center (TGRC), Graduate School of Medicine, Osaka University, 6-2-4, Furuedai, Suita, Osaka, 565-0874, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 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.
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.
"Idiopathic triglyceride deposit cardiomyovasculopathy" OR "I-TGCV" OR "Idiopathic neutral lipid storage disease with severe cardiovascular involvement"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Idiopathic triglyceride deposit cardiomyovasculopathy" OR "I-TGCV" OR "Idiopathic neutral lipid storage disease with severe cardiovascular involvement"
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: 1 interventional · 1 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
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T20:36:01.155Z