ORPHA:293621
X-linked endothelial corneal dystrophy
Also known as: XECD
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
28
33.4th percentile
Trials
0
Interventional, condition-specific
Researchers
170
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
X-linked endothelial corneal (XECD) is a rare subtype of posterior corneal characterized by ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010426
- MeSH:C567587
- OMIM:300779
- UMLS:C2749049
Additional Mondo synonyms (1)
corneal dystrophy, endothelial, X-linked, X-linked dominant
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
28 matched papers (16 in last 10 years) Source
- Phenotype characterisedPresent
10 HPO annotations (e.g. Corneal opacity; Band keratopathy; Corneal dystrophy) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPartial
None under the specific name; 38 for broader category corneal dystrophy
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)
10
Associated phenotypes · MONDO:0010426
- Corneal opacity
- Band keratopathy
- Corneal dystrophy
- Reduced visual acuity
Showing 4 of 10 — 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 2026-07-27
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.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
28
28 papers have ever been published on this condition (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=3967) is 59.
28 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).
16 in the last 10 years · medium confidence · 33.4th percentile (publications denominator)
Phrase hits: 28 · MeSH hits: 0
Who's working on it?
170
Distinct author names in 28 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Aldave AJ4 papers · 2016
The Jules Stein Eye Institute, David Geffen School of Medicine at the University of California-Los Angeles, Los Angeles, California, United States.
Papers in Europe PMC - 02Lisch W4 papers · 2026
Department of Ophthalmology, Johannes Gutenberg University Mainz, Mainz, Germany.
Papers in Europe PMC - 03Seitz B4 papers · 2026
Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Papers in Europe PMC - 04Berger T3 papers · 2026
Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Papers in Europe PMC - 05Frausto RF3 papers · 2016
The Jules Stein Eye Institute, David Geffen School of Medicine at the University of California-Los Angeles, Los Angeles, California, United States.
Papers in Europe PMC - 06Nischal KK3 papers · 2024
Children's Eye Center, Children's Hospital of Pittsburgh of UPMC (Dr Nischal), the Eye and Ear Institute, UPMC (Dr Nischal, Ms Lathrop), the Department of Ophthalmology, University of Pittsburgh School of Medicine (Dr Nischal, Ms Lathrop), and the Department of Bioengineering, University of Pittsburgh Swanson School of Engineering (Ms Lathrop).
Papers in Europe PMC - 07Bredrup C2 papers · 2024
Department of Clinical Medicine, University of Bergen, Bergen, Norway.
Papers in Europe PMC - 08Busin M2 papers · 2024
Department of Translational Medicine, University of Ferrara, Ferrara, Italy.
Papers in Europe PMC - 09Dudakova L2 papers · 2025
Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08 Prague, Czech Republic.
Papers in Europe PMC - 10Flockerzi E2 papers · 2026
Department of Ophthalmology, Saarland University Medical Center, Homburg, Saarland, Germany; and.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 38 trials are registered for corneal dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 9 September 2026 · last trial check 9 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
38 interventional trials matched corneal dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: corneal dystrophy
38
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04129021·RECRUITING·High Resolution, High-speed Multimodal Ophthalmic Imaging
Conditions: Retinitis Pigmentosa · Maculopathy, Age Related · Macular Dystrophy · Macular Edema·Matched via name phrase
- NCT04642729·ENROLLING BY INVITATION·Fresh Corneal Lenticule Implantation in Macular Corneal Distrophy With Relex Smile Surgery
Conditions: Macular Corneal Dystrophy·Matched via name phrase
- NCT04440280·RECRUITING·Targeting Reactive Oxygen Species Production as a Novel Therapeutic in Fuch's Endothelial Corneal Dystrophy
Conditions: Fuchs Endothelial Corneal Dystrophy·Matched via name phrase
- NCT07024693·RECRUITING·DT-168 in Keratoplasty Patients With Fuchs Endothelial Corneal Dystrophy
Conditions: Fuchs Endothelial Corneal Dystrophy · Fuchs·Matched via name phrase
- NCT07539012·RECRUITING·Effect of Descemet Membrane Polishing in Fuchs Endothelial Corneal Dystrophy
Conditions: Fuchs Endothelial Corneal Dystrophy·Matched via name phrase
- NCT06425666·RECRUITING·Trial Comparing Cataract Surgery With Triple-DMEK in Patients With Cataract and Fuchs Endothelial Corneal Dystrophy
Conditions: Cataract Surgery · Cataract and Fuchs Endothelial Corneal Dystrophy·Matched via name phrase
- NCT06844123·RECRUITING·Microsurgical Robot-assisted Corneal Transplant
Conditions: Corneal Dystrophy·Matched via name phrase
- NCT07729137·NOT YET RECRUITING·Study of EO2002 in Subjects With Corneal Edema Secondary to Corneal Endothelial Dysfunction
Conditions: Corneal Edema · Fuchs · Fuchs Dystrophy · Fuchs' Endothelial Dystrophy·Matched via name phrase
- NCT07217249·ENROLLING BY INVITATION·Effect of Donor Diabetes and Other Factors on Corneal Transplant Endothelial Cell Loss and Success at 5 Years
Conditions: Fuchs Endothelial Corneal Dystrophy · Corneal Endothelial Decompensation·Matched via name phrase
- NCT07750678·NOT YET RECRUITING·Safety and Efficacy Study of GEB-101 Injection in Subjects With TGFBI-related Corneal Dystrophy
Conditions: Hereditary Corneal Dystrophy · Corneal Abnormality · Corneal Dystrophies · Corneal Dystrophies, Hereditary·Matched via name phrase
- NCT07373821·RECRUITING·Influence of Supine Positioning on the Outcomes After Descemet Membrane Endothelial Keratoplasty (DMEK)
Conditions: Fuchs Endothelial Corneal Dystrophy · Descemet Membrane Endothelial Keratoplasty (DMEK)·Matched via name phrase
- NCT07441616·NOT YET RECRUITING·Partial Range Of Field IOLs in DMEK-Enabled Procedures
Conditions: Cataract · Fuchs Endothelial Corneal Dystrophy·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 27 · dropped 33 · fetched 2026-07-27
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 (27)
- ctis·2024-515061-33-00·Cancelled·The effect of sertraline on anxiety-depressive symptoms, endothelial dysfunction and biomarkers in heart failure patients with preserved ejection fraction
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-517880-22-00·Authorised, ongoing·FORMA – a multicentre randomized-controlled trial to evaluate the efficacy and safety of ketoanalogues of essential amino acids in prophylaxis of protein-energy wasting in nephrotic syndrome.
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-509390-23-00·Authorised, ongoing·A Multicenter, Open-label, Phase 1/2, Dose-escalation and Subsequent Safety Extension Study of Subcutaneous KK8123 in Adult Patients with X-linked Hypophosphatemia
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-518383-12-00·Authorised·Randomized, controlled, double-blind trial to investigate the effect of colchicin on the endothelial function in patients with CHIP mutations and chronic heart failure with reduced left ventricular function (CHIP-HF)
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-518345-21-00·Expired·Evaluation of the effects of bosentan in the management of patients in the acute phase of acute anterior ischemic optic neuropathy.
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-515387-31-00·Authorised, ongoing·Mesenchymal stem cells for Angiogenesis and Neovascularisation in digital Ulcers of Systemic sclerosis: the MANUS Trial
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2024-513600-33-00·Authorised, ongoing·Impact of the presence of the corpus luteum on pregnancies obtained through frozen embryo transfer(FET): a prospective randomizedcontrolled study
Uncertain — At least one provider returned uncertain or parent-category.
- ctis·2023-510091-31-00·Authorised, ongoing·A randomized clinical two-arm trial comparing inflammation and cystoid macular edema for the medication regimens postoperative topical NSAIDs and steroids to only postoperative topical steroids in patients undergoing corneal endothelial transplantations (DMEC).
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-515997-28-00·Authorised, ongoing·DANOHCA: The Danish Out-of-Hospital Cardiac Arrest study
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-512757-24-00·Authorised, ongoing·LANdiolol MIcrocirculatory effects during Septic chOc (MILANOS)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-516594-71-01·Cancelled·Clinical trial phase IIb multicenter, double-blind, randomized, placebo-controlled trial evaluating the efficacy of intracoronary infusion of autologous adult mononuclear bone marrow unexpanded on functional recovery in patients with dilated cardiomyopathy of idiopathic origin and heart failure.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-517104-11-00·Cancelled·A Phase IIa, Randomized, Double-Masked, Placebo-Controlled, Parallel-Group, Multicenter Study Assessing the Efficacy and Safety of STN1010904 Ophthalmic Suspension 0.03% and 0.1% Compared with Vehicle in Subjects with Fuchs Endothelial Corneal Dystrophy (FECD) - PHANTOM Study
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-507994-16-00·Cancelled·A Long-term Follow-up Study to Evaluate the Safety and Efficacy of Retinal Gene Therapy in Subjects with Choroideremia Previously Treated with Adeno-Associated Viral Vector Encoding Rab Escort Protein-1 (AAV2-REP1) and in Subjects with X-Linked Retinitis Pigmentosa Previously Treated with Adeno-Associated Viral Vector Encoding RPGR (AAV8-RPGR) in an Antecedent Study (SOLSTICE)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-515577-10-00·Authorised, ongoing·Comparison of the effects of Belatacept and Anticalcineurins on endothelial function in kidney transplant patients - BELAFENDO
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-516429-30-00·Cancelled·VIRTUOSE: Efficiency of sildenafil on the absolute claudication distance of peripheral arterial disease patients with intermittent claudication. A phase III, National, Multicenter, Prospective, Randomized, Double-blind, Placebo-Controlled trial.
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-507575-22-00·Expired·Imaging Perfusion Restrictions from Extracellular Solid Stress - An open-label losartan study (ImPRESS)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-515999-13-00·Cancelled·LOW-DOSE DOBUTAMINE INFUSION AND SINGLE-DOSE TOCILIZUMAB IN ACUTE MYOCARDIAL INFARCTION PATIENTS WITH HIGH RISK OF CARDIOGENIC SHOCK DEVELOPMENT (DOBERMANN) - A 2X2 MULTIFACTORIAL, DOUBLE-BLINDED, RANDOMIZED, PLACEBO-CONTROLLED TRIAL
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-511181-36-00·11·A Randomized, Controlled, Masked, Multi-center Study Evaluating the Efficacy, Safety, and Tolerability of Two Doses of AGTC-501 Compared to an Untreated Control Group in Male Participants with X-linked Retinitis Pigmentosa
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-515328-35-00·Authorised, ongoing·Temporal characterization of Extracellular Vesicles during cellular therapy using CAR-T cells and during the occurrence of Immune effector Cell-Associated Neurotoxicity Syndrome : the VESICANS study
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-517314-15-00·Authorised·IMPACT OF ANTI-TNF, VEDOLIZUMAB AND TOFACITINIB ON AORTIC STIFFNESS, CAROTID INTIMA-MEDIA
THICKNESS AND CARDIOVASCULAR RISK OF PATIENTS WITH ULCERATIVE COLITIS
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-508535-32-00·Authorised, ongoing·Effects of Metformin on hepatic venous pressure gradient in patients with cirrhosis and portal hypertension – A randomized placebo-controlled study
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-514887-14-00·Cancelled·Impact of dapagliflozin on vascular function in chronic kidney disease patients - (DAPA-VASC)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-515928-36-00·Authorised·VASCULAR AND RENAL IMPACT OF ENDOTHELIN-1 RECEPTOR BLOCKADE IN PATIENTS WITH UNCONTROLLED ARTERIAL HYPERTENSION - ENDOTHELIN-2
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-513808-34-00·Cancelled·A randomized crossover clinical trial regarding the blockage of the mineralocorticoid receptor using Eplerenone on the evolution of arterial stiffness in kidney patients one year after transplant: EVATRAN (The effect of Eplerenone on the evolution of Vasculopathy in renal transplant patients).
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-515569-32-00·Expired·Evaluation of safety and efficacy of mitapivat sulfate in adult patients with sickle cell disease
skipped — Beyond per-disease secondary LLM cap
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 X-linked endothelial corneal dystrophy — 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.
"X-linked endothelial corneal dystrophy" OR "corneal dystrophy, endothelial, X-linked, X-linked dominant"
MeSH descriptor terms unioned into the query: Corneal Dystrophy, Endothelial, X-Linked
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked endothelial corneal dystrophy" OR "corneal dystrophy, endothelial, X-linked, X-linked dominant" OR "Corneal Dystrophy, Endothelial, X-Linked"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"corneal dystrophy"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: XECD
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
Ingested 2026-07-26T02:11:31.363Z