ORPHA:411
Hyperlipoproteinemia type 1
Also known as: HLP type 1
Publications
1,910
Trials
2
Interventional, condition-specific
Researchers
1,360
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
1,910 matched papers (915 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
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?
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?
1,910
1,910 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=5449) is 41.
1,910 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).
915 in the last 10 years · low confidence
Phrase hits: 1,910 · MeSH hits: 0
Who's working on it?
1,360
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.
- 01Yang L7 papers · 2026
Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 02Chen X6 papers · 2026
Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 03Hegele RA6 papers · 2025
Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, 4288A-1151 Richmond Street North, London, Ontario N6A 5B7, Canada (Perera, Wang, McIntyre and Hegele); Department of Biochemistry, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada (Perera and Hegele); Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada (Hegele). Electronic address: hegele@robarts.ca.
Papers in Europe PMC - 04Li Y4 papers · 2024
Department of Endocrinology and Metabolism, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Papers in Europe PMC - 05Huang Q3 papers · 2024
Department of Endocrinology, Zhongnan Hospital of Wuhan University , ,
Papers in Europe PMC - 06Kobayashi J3 papers · 2022
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 - 07Koshizaka M3 papers · 2022
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 - 08Li X3 papers · 2026
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
Papers in Europe PMC - 09Liu Y3 papers · 2026
MRC Integrative Epidemiology Unit, Bristol Medical School, Bristol BS8 1QU, UK.
Papers in Europe PMC - 10Maezawa Y3 papers · 2022
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?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th 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.
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.
"Hyperlipoproteinemia type 1" OR "HLP type 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyperlipoproteinemia type 1" OR "HLP type 1"
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 · 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 2026-07-26T13:45:41.039Z