ORPHA:1459
Celiac disease-epilepsy-cerebral calcification syndrome
Also known as: CEC
Publications
2
8th percentile
Trials
0
Interventional, condition-specific
Researchers
23
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Celiac disease, and cerebral calcification syndrome (CEC) is a rare disorder characterized by the combination of auto-immune intestinal disease, epileptic and cerebral calcifications.
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:0009187
- MeSH:C535496
- OMIM:226810
- UMLS:C1856930
Additional Mondo synonyms (2)
celiac disease, epilepsy, and cerebral calcification syndrome · coeliac disease, epilepsy, and cerebral calcification syndrome
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2 matched papers (1 in last 10 years) Source
- Phenotype characterisedPresent
1 HPO annotations (e.g. Celiac disease) 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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.
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 2026-07-29
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.
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?
2
2 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=3967) is 59.
2 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).
1 in the last 10 years · medium confidence · 8th percentile (publications denominator)
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
23
Distinct author names in 2 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.
- 01Barua S1 paper · 2026
Department of Pathology, Anatomy & Laboratory Medicine, West Virginia University, Health Sciences Campus, 763 Chestnut Ridge Rd. Morgantown, WV 26505, United States.
Papers in Europe PMC - 02Braun I1 paper · 2026
Critical Path Institute, 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960, United States.
Papers in Europe PMC - 03Brünger T1 paper · 2026
The University of Texas Health Science Center at Houston, 7000 Fannin, Suite 1706. Houston, Texas 77030, United States.
Papers in Europe PMC - 04Coughlin C 2nd1 paper · 2026
University of Colorado Anschutz, 13001 E 17th Pl, Aurora, CO 80045, United States.
Papers in Europe PMC - 05Gehrke S1 paper · 2026
The University of North Carolina at Chapel Hill, 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264, United States.
Papers in Europe PMC - 06Grabenstatter H1 paper · 2026
Critical Path Institute, 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960, United States.
Papers in Europe PMC - 07Grover PJ1 paper · 2010
Neurosciences Intensive Care Unit, West Wing, John Radcliffe Hospital, Headley Way, Headington, Oxford, UK. patrick.grover@doctors.org.uk
Papers in Europe PMC - 08Haendel M1 paper · 2026
The University of North Carolina at Chapel Hill, 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264, United States.
Papers in Europe PMC - 09Ivaniuk A1 paper · 2026
Mayo Clinic Florida, 4500 San Pablo Road Jacksonville, FL 32224, United States.
Papers in Europe PMC - 10Jayaram R1 paper · 2010Papers 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).
Data as of 11 September 2026 · last trial check 11 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 64 · after dedupe 61 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 61 · dropped 0 · fetched 2026-07-29
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 (61)
- ctis·2026-525162-21-00·Authorised·A Phase 2a, multi centric, open label clinical study to explore the safety and tolerability, the pharmacokinetics and pharmacodynamics profile and first signs of efficacy of PTI5803 administered as adjunctive therapy with a 3-dose escalation regimen in patients >= 14 years of age with drug-resistant seizures associated to focal cortical dysplasia, followed by an optional open-label extension study.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521506-17-01·Authorised·iSTOP-CP: intranasal Stem Cells to treat Perinatal brain injury to combat Cerebral Palsy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524019-35-00·Authorised, ongoing·Three-part PK and PD study of AXN-027
skipped — LLM skipped (--skip-llm)
- ctis·2026-525518-70-00·Authorised·Clinical trial to evaluate the correlation between variation in intestinal lactase activity measured with LacTEST 0.45g and alteration of intestinal barrier integrity and/or intestinal permeability in patients with celiac disease
skipped — LLM skipped (--skip-llm)
- ctis·2026-525478-21-00·Authorised·A randomized, multiple ascending doses, clinical trial to evaluate safety, tolerability, pharmacokinetics, and pharmacodynamics of CV-01 after double-blind, placebo-controlled multiple oral administrations for 2 weeks in healthy volunteers, and multiple oral administrations open-label for 2 weeks in a cohort of participants with drug resistant epilepsy
skipped — LLM skipped (--skip-llm)
- ctis·2025-524511-36-00·Authorised·Impact of epilepsy on the brainstem adenosine pathway and its relation with arousal and respiratory reactivity
BRAVE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524134-26-00·Authorised, ongoing·Effect of NBI-921355 on corticospinal excitability in healthy participants
skipped — LLM skipped (--skip-llm)
- ctis·2025-522552-20-00·Authorised, recruiting·Multicenter, Randomized, Double-blind, Placebo-controlled Trial of Clemizole HCl as Adjunctive Therapy in Patients with Lennox-Gastaut Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-524038-24-00·Authorised, recruiting·A Double-blind, Randomized Clinical Trial Evaluating the Efficacy and Safety of Vormatrigine in Adults with Focal Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2025-524199-40-00·Authorised, ongoing·A PET-MRI study of serotoninergic brainstem pathway in patients with Dravet Syndrome - DRAPETONINE
skipped — LLM skipped (--skip-llm)
- ctis·2025-524310-28-00·Authorised, ongoing·A Study Evaluating the Safety and Tolerability of a Novel Formulation of QRL-101 in Healthy Participants
skipped — LLM skipped (--skip-llm)
- ctis·2025-520587-18-00·Authorised, ongoing·RENAISSANCE 2:
A Double-Blind, Randomized, Placebo-Controlled, Multicenter, Parallel-Group Study to Evaluate the Efficacy, Safety, and Tolerability of SPN-817 in Adults with Focal Onset Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2024-519133-29-00·Authorised·Efficacy of probenecid on cluster seizures during dosage reduction of Anti Seizure Medication (ASM) in presurgical focal epilepsy video-EEG monitoring
skipped — LLM skipped (--skip-llm)
- ctis·2025-521640-38-00·Authorised, ongoing·Open Label Extension Clinical Trial of Vormatrigine in Adult Patients with Epilepsy.
skipped — LLM skipped (--skip-llm)
- ctis·2025-520541-72-00·Authorised, ongoing·NBI-1065845-MDD3027: A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Maintenance of Effect of NBI 1065845 as an Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519421-37-00·Authorised, ongoing·NBI-1065845-MDD3026: A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519420-25-00·Authorised, ongoing·NBI-1065845-MDD3025: A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-520409-38-00·Authorised, ongoing·Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single and Multiple Doses of ANB033
skipped — LLM skipped (--skip-llm)
- ctis·2024-519423-24-00·Authorised, recruiting·NBI-1065845-MDD3028: A Long-Term, Open-Label Study to Assess the Safety and Tolerability of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519555-28-00·Authorised, recruiting·EMPEROR: A Multicenter, Randomized, Double-blind, Sham-controlled, Parallel Group, Phase 3 Study Evaluating the Efficacy, Safety, and Tolerability of Zorevunersen (STK-001) in Patients with Dravet Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-519418-29-00·Authorised, ongoing·NBI-1065845-MDD3024: A Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of NBI-1065845 as Adjunctive Treatment in Subjects with Major Depressive Disorder (MDD)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514937-39-00·Authorised, ongoing·A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Investigate the Efficacy, Safety, and Tolerability of LP352 in the Treatment of Seizures in Children and Adults with Dravet Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-517081-42-00·Expired·A Multicenter, Randomized, Double-blind, Placebo-controlled, Phase 2a Trial to Characterize the Efficacy and Safety of TEV-53408 in Adults with Celiac Disease While Undergoing Oral Gluten Exposure
skipped — LLM skipped (--skip-llm)
- ctis·2024-517061-16-01·Cancelled·An Open Label Clinical Trial to Evaluate the Efficacy and Safety of PRAX-628 in Adult Patients with Focal Onset or Primary Generalized Tonic-Clonic Seizures
skipped — LLM skipped (--skip-llm)
- ctis·2024-514499-42-00·Authorised, recruiting·A Double-Blind, Randomized, Placebo and Active Controlled Study to Evaluate the Efficacy and Safety of Once Daily, Extended Release Levetiracetam as Add-on Therapy in Patients with Refractory Partial Onset Epilepsy.
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 Celiac disease-epilepsy-cerebral calcification syndrome — 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.
"Celiac disease-epilepsy-cerebral calcification syndrome" OR "celiac disease, epilepsy, and cerebral calcification syndrome" OR "coeliac disease, epilepsy, and cerebral calcification syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Celiac disease-epilepsy-cerebral calcification syndrome" OR "celiac disease, epilepsy, and cerebral calcification syndrome" OR "coeliac disease, epilepsy, and cerebral calcification syndrome"
Study-type breakdown: 0 interventional · 0 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
Synonyms dropped by stoplist: CEC
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 2026-07-26T17:27:14.291Z