ORPHA:75234
Cholesteryl ester storage disease
Also known as: Cholesterol ester storage disease
Publications
714
78.2th percentile
Trials
3
Interventional, condition-specific
Researchers
1,186
Distinct authors in sample
Gene link
—
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A form of lysosomal acid lipase deficiency characterized by cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with , liver dysfunction and/or dyslipidemia.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019149
- OMIM:278000
- UMLS:C0008384
Additional Mondo synonyms (5)
LAL deficiency, partial · LIPA deficiency, partial · cholesterol ester hydrolase deficiency, partial · cholesterol ester storage disease · lysosomal acid lipase deficiency, partial
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
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
714 matched papers (340 in last 10 years) Source
- Phenotype characterisedPresent
50 HPO annotations (e.g. Hepatic steatosis; Decreased circulating HDL-C concentration; Cirrhosis) Source
- Animal modelPresent
2 genotype models (Rattus norvegicus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
3 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)
50
Associated phenotypes · MONDO:0019149
- Hepatic steatosis
- Decreased circulating HDL-C concentration
- Cirrhosis
- Disseminated intravascular coagulation
- Bone-marrow foam cells
Showing 5 of 50 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- SD-Tspoem1Vpl·RGD:150429828·Rattus norvegicus
- SD-Tspoem2Vpl·RGD:150429830·Rattus norvegicus
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.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
714
714 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.
714 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).
340 in the last 10 years · high confidence · 78.2th percentile (publications denominator)
Phrase hits: 714 · MeSH hits: 0
Who's working on it?
1,186
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.
- 01Pisciotta L6 papers · 2020
Department of Internal Medicine, University of Genoa, Italy.
Papers in Europe PMC - 02Bertolini S5 papers · 2018
Department of Internal Medicine, University of Genoa, Italy. Electronic address: stefbert@unige.it.
Papers in Europe PMC - 03Di Rocco M4 papers · 2023
IRCCS Institute Giannina Gaslini, Department of Pediatrics, Unit of Rare Diseases, Genoa, Italy.
Papers in Europe PMC - 04Lipiński P4 papers · 2025
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 05Lopez AM4 papers · 2022
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, United States. Electronic address: adam.lopez@utsouthwestern.edu.
Papers in Europe PMC - 06Turley SD4 papers · 2022
Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, United States. Electronic address: stephen.turley@utsouthwestern.edu.
Papers in Europe PMC - 07Tylki-Szymańska A4 papers · 2024
Department of Pediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.
Papers in Europe PMC - 08Zhang H4 papers · 2025
Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York, New York, USA.
Papers in Europe PMC - 09Balwani M3 papers · 2018
Mount Sinai Hospital and Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States. Electronic address: manisha.balwani@mssm.edu.
Papers in Europe PMC - 10Brassier A3 papers · 2026
Reference Center for Inherited Metabolic Diseases, Assistance Publique-Hôpitaux de Paris, Necker Hospital, Paris University, Paris, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026
3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).
high confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 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
6 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.
Recruiting or not-yet-recruiting
- NCT01633489·RECRUITING·Lysosomal Acid Lipase (LAL) Deficiency Registry
Not reviewed·Conditions: Lysosomal Acid Lipase Deficiency · Cholesterol Ester Storage Disease · Wolman Disease · Acid Cholesteryl Ester Hydrolase Deficiency, Type 2·Matched via name phrase
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 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · 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).
Uncertain / not reviewed (60)
- ctis·2026-526821-16-00·Authorised·Melanoma-TBK1-inhibitor enhanced Immuno Therapy with Checkpoint Inhibitors: a Phase IB/II Trial in Unresectable Stage III or Stage IV Cutaneous Melanoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-523960-19-00·Authorised·An Open-Label, Randomized, Multicenter Phase 3 Study Investigating the Efficacy and Safety of BGB-43395 Plus Letrozole versus CDK4/6 Inhibitors (Abemaciclib, Palbociclib, Ribociclib) Plus Letrozole in Patients with Advanced or Metastatic HR+/HER2- Breast Cancer Who Have Not Received Prior Systemic Anticancer Treatment for Advanced or Metastatic Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524125-40-01·Authorised·Immune dynamics and biomarkers of anti-tumor response in BMS-986340 (anti-CCR8) and nivolumab (anti-PD-1) co-treatment of metastatic tumors
skipped — LLM skipped (--skip-llm)
- ctis·2025-524918-28-00·Authorised·A Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy and Safety of SIR9900 in Patients with VEXAS Syndrome (SIVEX)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525620-23-00·Authorised·Local and systemic immune modulation by Rilvegostomig (AZD2936) in the treatment of advanced gastric cancer (RILVE Project)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525736-42-00·Authorised·A PHASE II, SINGLE ARM, OPEN LABEL, MULTICENTER STUDY EVALUATING THE EFFICACY AND SAFETY OF CEVOSTAMAB IN COMBINATION WITH POMALIDOMIDE AND DEXAMETHASONE IN PATIENTS WITH MULTIPLE MYELOMA WHO HAVE RECEIVED A PRIOR BCMA TARGETING CAR T-CELL THERAPY
skipped — LLM skipped (--skip-llm)
- ctis·2025-525020-99-00·Authorised·PROPHY-SEIN - Evaluation of the effect of antibiotic prophylaxis during lumpectomy for breast cancer: prospective randomised double-blind noninferiority study of placebo vs cefazolin
skipped — LLM skipped (--skip-llm)
- ctis·2025-524403-80-00·Authorised·A Phase 3, Randomized, Open-Label, Multicenter Study Evaluating the Efficacy of KITE-753 Versus Axicabtagene Ciloleucel in Participants with Relapsed or Refractory Large B-Cell Lymphoma After First-Line Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-519985-35-00·Authorised·Obinutuzumab for systemic lupus erythematosus pure membranous nephropathy: a phase II trial
(OBLUMEN)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525876-24-00·Authorised·Phase I/II clinical trial on the use of central nervous system administrations of CART-NKG2D or NKIL15 cells in children, adolescent and young adults with recurrent/refractory high grade Central Nervous System tumours (CINK-CAR)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525088-34-00·Authorised·RASolute 303: A Phase 3 Global, Multicenter, Open-label, Randomized, 3-Arm Study of Daraxonrasib Monotherapy or Daraxonrasib Plus Gemcitabine and Nab-paclitaxel versus Gemcitabine and Nab-paclitaxel as a First-Line Treatment for Patients with Metastatic Pancreatic Adenocarcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-524139-38-00·Authorised·A Phase 2, Open-label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Surovatamig in Adults with Antibody-mediated Kidney Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-525096-83-00·Authorised·Phase II, Multicenter, Randomized Study to Evaluate Safety and Efficacy of MRD-guided Therapy with Reduced versus Standard Dose of Belantamab Mafodotin in Combination with Pomalidomide and Dexamethasone in Patients with Relapsed/Refractory Multiple Myeloma (REBEL)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524285-18-00·Authorised·A Phase 2 Open-Label, Multi-Center Study of BMS-986504 as Monotherapy and in Combination with Other Agents in Participants with Advanced and/or Metastatic Solid Tumors with Homozygous MTAP Deletion
skipped — LLM skipped (--skip-llm)
- ctis·2025-524028-23-00·Authorised, recruiting·A Phase III, Randomized, Open-Label, Multicenter Study Evaluating the Efficacy and Safety of Cevostamab in Combination with Pomalidomide and Dexamethasone Versus Standard of Care in Patients with Multiple Myeloma who Have Received One to Three Prior Lines of Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-517799-40-00·Authorised·A multicenter open-label phase II study of Cemiplimab plus chemotherapy, selected on the basis of baseline cytidine deaminase activity, in advanced squamous non-small cell lung cancer - CECYDE trial - GOIRC-04-2024
skipped — LLM skipped (--skip-llm)
- ctis·2026-525566-21-00·Authorised, ongoing·A phase IIa, single-arm, single-center, open label, proof-of-concept trial evaluating increased frequency dosing of VCN-01 (zabilugene almadenorepvec) in combination with nab-Paclitaxel/Gemcitabine (GnP) in Patients with Newly-Diagnosed Metastatic Pancreatic Cancer (VIRAGE2)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519299-16-00·Authorised·A 2-Part, Phase 3, Multicenter, Randomized, Open-Label, Active-Controlled Study to Assess Efficacy and Safety of REGN7508, a Monoclonal Antibody Against Factor XI, for the Treatment and Secondary Prevention of Venous Thromboembolism in Participants with Solid and Hematologic Cancers (ROXI-CAT-II)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525157-39-00·Authorised·A Prospective, Randomized, Controlled, Multinational, Phase 2/3, Open-Label Trial to Evaluate the Efficacy and Safety of SIL204-SL Administered as an Integrated Therapeutic Regimen in Combination with Chemotherapy vs. Chemotherapy Treatment Alone in Participants with Locally Advanced Pancreatic Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-523479-49-00·Authorised, recruiting·A Phase 2a Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of MK-8690 in Adult Participants with Moderately to Severely Active Ulcerative Colitis
skipped — LLM skipped (--skip-llm)
- ctis·2025-524048-36-00·Authorised·Paclitaxel plus ramucirumab and tislelizumab as switch maintenance versus continuation of chemotherapy and tislelizumab in patients with advanced HER2-negative and PD-L1 positive gastroesophageal adenocarcinoma: the ARMANI-2/ENGIC08 trial by GONO
skipped — LLM skipped (--skip-llm)
- ctis·2026-525643-32-00·Authorised·STOP - Safety and efficacy of a STOPping strategy versus classical maintenance dose of JAK inhibitors in deep remission patients with ulcerative colitis: a randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-522267-15-00·Authorised, recruiting·A Phase 2/3, Randomized, Open-Label, Comparison Study of MK-1045 Versus Blinatumomab in Participants With Relapsed or Refractory CD19+ B-Cell Acute Lymphoblastic Leukemia (B-ALL)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524095-27-00·Authorised·A Phase 2, Open-Label, Multicenter, Randomized Study to Evaluate Denikitug as Monotherapy or in Combination With Nivolumab or Chemotherapy in Participants With HER2-Negative, Unresectable, Recurrent, and/or Metastatic Gastric, Gastroesophageal Junction (GEJ), and Esophageal Adenocarcinomas
skipped — LLM skipped (--skip-llm)
- ctis·2025-524283-38-00·Authorised·HOVON 182 CLL: Prospective randomized phase 3 study of treatment with rituximab (6 cycles) in combination with 6 or 26 cycles of venetoclax in patients with relapsed or refractory chronic lymphocytic leukemia
RED RIVER CLL study: Reduced Duration Rituximab VEnetoclax in Relapsed/refractory CLL
skipped — LLM skipped (--skip-llm)
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 Cholesteryl ester storage disease — check Associations / patient organisations on that page.
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.
"Cholesteryl ester storage disease" OR "Cholesterol ester storage disease" OR "LAL deficiency, partial" OR "LIPA deficiency, partial" OR "cholesterol ester hydrolase deficiency, partial" OR "lysosomal acid lipase deficiency, partial"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Cholesteryl ester storage disease" OR "Cholesterol ester storage disease" OR "LAL deficiency, partial" OR "LIPA deficiency, partial" OR "cholesterol ester hydrolase deficiency, partial" OR "lysosomal acid lipase deficiency, partial"
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: 3 interventional · 6 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
Ingested 2026-07-27T01:46:20.635Z