ORPHA:353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Publications
29
39.4th percentile
Trials
0
Interventional, condition-specific
Researchers
210
Distinct authors in sample
Gene link
EP300
Definitive
Readiness
3/6
Stages with a signal
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:0013364
- OMIM:613684
- UMLS:C3150941
- NCIT:C153291
Additional Mondo synonyms (3)
EP300 Rubinstein-Taybi syndrome · Rubinstein-Taybi syndrome caused by mutation in EP300 · Rubinstein-Taybi syndrome type 2
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 identifiedPresent
Definitive — EP300
- LiteraturePresent
29 matched papers (23 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 trialPartial
None under the specific name; 3 for broader category Rubinstein-Taybi syndrome
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 (EP300).
GenCC classification: Definitive.
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?
29
29 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=5449) is 41.
29 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).
23 in the last 10 years · high confidence · 39.4th percentile (publications denominator)
Phrase hits: 29 · MeSH hits: 0
Who's working on it?
210
Distinct author names in 29 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.
- 01Gervasini C2 papers · 2025
Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.
Papers in Europe PMC - 02Lettieri A2 papers · 2025
Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Papers in Europe PMC - 03Massa V2 papers · 2025
Department of Health Sciences, Università degli Studi di Milano, 20142 Milano, Italy.
Papers in Europe PMC - 04Rasheed A2 papers · 2021
School of Biological Sciences, University of the Punjab Quaid-i-Azam Campus, Lahore, Pakistan.
Papers in Europe PMC - 05Aarts-Tesselaar C1 paper · 2022
Department of Pediatrics, Amphia Hospital, Breda, North Brabant, Netherlands.
Papers in Europe PMC - 06
- 07Afink GB1 paper · 2015
Reproductive Biology Laboratory, Academic Medical Center, Amsterdam, the Netherlands.
Papers in Europe PMC - 08Ahmed SF1 paper · 2016Papers in Europe PMC
- 09Al B1 paper · 2026
Department for Immunology & Metabolism, Life and Medical Sciences Institute (LIMES), University of Bonn, Bonn, Germany.
Papers in Europe PMC - 10Al-Shehhi M1 paper · 2016Papers 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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 3 trials are registered for Rubinstein-Taybi syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
3 interventional trials matched Rubinstein-Taybi syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Rubinstein-Taybi syndrome
3
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
- NCT06740162·RECRUITING·Physical Activity and Community EmPOWERment Project
Conditions: Intellectual Disability · Neurodevelopmental Disorders · Autism Spectrum Disorder · Down Syndrome·Matched via name phrase
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.
Recruiting or not-yet-recruiting
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
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.
"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" OR "EP300 Rubinstein-Taybi syndrome" OR "Rubinstein-Taybi syndrome caused by mutation in EP300" OR "Rubinstein-Taybi syndrome type 2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency" OR "EP300 Rubinstein-Taybi syndrome" OR "Rubinstein-Taybi syndrome caused by mutation in EP300" OR "Rubinstein-Taybi syndrome type 2" OR "EP300"
Recall-expansion terms: EP300
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Rubinstein-Taybi syndrome"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T14:25:05.758Z