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ORPHA:309015

Familial lipoprotein lipase deficiency

high confidenceSubtype of disorder

Also known as: LPL deficiency

Publications

1,594

86.3th percentile

Trials

6

Interventional, condition-specific

Researchers

1,085

Distinct authors in sample

Gene link

LPL

Definitive

Readiness

6/6

Stages with a signal

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

familial lipoprotein lipase deficiency (disorder) [ambiguous] · familial lipoprotein lipase deficiency with type I phenotype · high density lipoprotein cholesterol level QTL 11 · hyperchylomicronemia

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — LPL

  2. LiteraturePresent

    1,594 matched papers (764 in last 10 years) Source

  3. Phenotype characterisedPresent

    14 HPO annotations (e.g. Episodic abdominal pain; Splenomegaly; Vomiting) Source

  4. Animal modelPresent

    5 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    2 FDA designations (2 FDA orphan-indication approvals) — e.g. lomitapide Source

  6. Interventional trialPresent

    6 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 (LPL).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

14

Associated phenotypes · MONDO:0009387

  • Episodic abdominal pain
  • Splenomegaly
  • Vomiting
  • Hypercholesterolemia
  • Hepatosplenomegaly

Showing 5 of 14 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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)

2

Designations · 2 with FDA orphan-indication approval

  • FDA lomitapideFamilial Chylomicronemia · 2011-03-03 · Not FDA Approved for Orphan Indication
  • FDA ImplitapideFredrickson type I or V hyperlipoproteinemia · 2004-08-19 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0009387

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,594

1,594 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.

1,594 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).

764 in the last 10 years · high confidence · 86.3th percentile (publications denominator)

Phrase hits: 1,524 · MeSH hits: 6

Open Europe PMC search

Who's working on it?

1,085

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
    Goldberg IJ9 papers · 2026

    NYU-Langone Medical Center, New York, New York, USA.

    Papers in Europe PMC
  2. 02
    Gaudet D6 papers · 2026

    Lipidology Unit, Community Genomic Medicine Center, Department of Medicine, Université de Montréal and ECOGENE-21 Clinical and Translational Research Center, G7H 7K9, Chicoutimi, Quebec, Canada.

    Papers in Europe PMC
  3. 03
    Basu D5 papers · 2026

    Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, New York University Grossman School of Medicine (A.G.C., D.B., I.J.G.).

    Papers in Europe PMC
  4. 04
    Brisson D5 papers · 2026

    Lipidology Unit, Community Genomic Medicine Center, Department of Medicine, Université de Montréal and ECOGENE-21 Clinical and Translational Research Center, G7H 7K9, Chicoutimi, Quebec, Canada.

    Papers in Europe PMC
  5. 05
    Cabodevilla AG5 papers · 2026

    Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, New York University Grossman School of Medicine (A.G.C., D.B., I.J.G.).

    Papers in Europe PMC
  6. 06
    Larouche M5 papers · 2026

    Department of Medicine, Université de Montréal, ECOGENE-21, 930 Jacques Cartier Est, Chicoutimi, G7H 7K9, Canada.

    Papers in Europe PMC
  7. 07
    Tada H5 papers · 2024

    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine, Japan. Electronic address: ht240z@sa3.so-net.ne.jp.

    Papers in Europe PMC
  8. 08
    Hooper AJ4 papers · 2022

    Department of Core Clinical Pathology and Biochemistry, PathWest Laboratory Medicine W/A, Royal Perth Hospital, Perth, WA 6847, Australia.

    Papers in Europe PMC
  9. 09
    Kobayashi J4 papers · 2026

    Graduate School of Medicine, Chiba University Endocrine Metabolism/Hematology/Geriatric Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba 260-8677, Japan. Electronic address: junjimaryland@gmail.com.

    Papers in Europe PMC
  10. 10
    Maezawa Y4 papers · 2026

    Graduate School of Medicine, Chiba University Endocrine Metabolism/Hematology/Geriatric Medicine, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba 260-8677, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

6

interventional trials for this specific condition

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

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

6 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.1th percentile).

high confidence · 90.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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.

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 2026-07-30

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 Familial lipoprotein lipase 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.

("Familial lipoprotein lipase deficiency" OR "LPL deficiency" OR "familial lipoprotein lipase deficiency (disorder) [ambiguous]" OR "familial lipoprotein lipase deficiency with type I phenotype" OR "high density lipoprotein cholesterol level QTL 11" OR "hyperchylomicronemia") OR (MESH:"Hyperlipoproteinemia Type I") OR ("LPL syndrome" OR "LPL-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hyperlipoproteinemia Type I

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

"Familial lipoprotein lipase deficiency" OR "LPL deficiency" OR "familial lipoprotein lipase deficiency (disorder) [ambiguous]" OR "familial lipoprotein lipase deficiency with type I phenotype" OR "high density lipoprotein cholesterol level QTL 11" OR "hyperchylomicronemia" OR "Hyperlipoproteinemia Type I"

Interventional trials matched via: phrase, mesh (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 6 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Ingested 2026-07-27T12:53:50.440Z