ORPHA:3375
Trisomy X syndrome
Also known as: 47,XXX syndrome · Triplo-X syndrome · XXX syndrome
Publications
2,328
88.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,075
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare sex-chromosome anomaly characterized by a variable , including various degree of global , tall stature, epicanthal folds, , and clinodactyly in association with , renal and genitourinary abnormalities, and premature ovarian failure (POF).
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018066
- MeSH:C535318
- UMLS:C0221033
- NCIT:C129718
Additional Mondo synonyms (4)
47,XXX · triple X syndrome · trisomy X · trisomy type X
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
2,328 matched papers (1,241 in last 10 years) Source
- Phenotype characterisedPresent
31 HPO annotations (e.g. Anxiety; Tremor; Hip dysplasia) 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; 22 for broader category trisomy
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)
31
Associated phenotypes · MONDO:0018066
- Anxiety
- Tremor
- Hip dysplasia
- Abnormality of chromosome segregation
- Delayed speech and language development
Showing 5 of 31 — 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 2026-07-29
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?
2,328
2,328 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.
2,328 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).
1,241 in the last 10 years · high confidence · 88.5th percentile (publications denominator)
Phrase hits: 2,328 · MeSH hits: 0
Who's working on it?
1,075
Distinct author names in 200 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.
- 01Tartaglia N11 papers · 2026
eXtraordinarY Kids Clinic, Developmental Pediatrics, Children's Hospital Colorado, Aurora, Colorado, USA.
Papers in Europe PMC - 02Gravholt CH10 papers · 2025
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus 8200, Denmark; Department of Molecular Medicine, Aarhus University Hospital, Brendstrupgårdsvej 21A, Aarhus 8200, Denmark; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Blvd. 82, Aarhus 8200, Denmark. Electronic address: claus.gravholt@clin.au.dk.
Papers in Europe PMC - 03Bothwell S8 papers · 2026
Department of Pediatrics, University of Colorado School of Medicine, USA; Extraordinary Kids Clinic, Developmental Pediatrics, Children's Hospital Colorado, USA.
Papers in Europe PMC - 04Li Y8 papers · 2026
Department of Laboratory Medicine, Zhongnan Hospital, Wuhan university, Wuhan, Hubei, P. R. China.
Papers in Europe PMC - 05Zhang Y8 papers · 2026
Department of Prenatal diagnosis and screening center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou, Zhejiang, China.
Papers in Europe PMC - 06Chen CP7 papers · 2026
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com.
Papers in Europe PMC - 07Davis S7 papers · 2026
Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
Papers in Europe PMC - 08Davis SM7 papers · 2025
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, 80045, USA. Shanlee.davis@childrenscolorado.org.
Papers in Europe PMC - 09Howell S6 papers · 2026
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, 80045, USA.
Papers in Europe PMC - 10Huang H6 papers · 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 22 trials are registered for trisomy, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
high 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.
22 interventional trials matched trisomy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: trisomy
22
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
- NCT05527652·RECRUITING·Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia
Conditions: Obstructive Sleep Apnea · Hypertonia, Muscle · Nasal Airway Obstruction · Tolerance·Matched via name phrase
- NCT06740162·RECRUITING·Physical Activity and Community EmPOWERment Project
Conditions: Intellectual Disability · Neurodevelopmental Disorders · Autism Spectrum Disorder · Down Syndrome·Matched via name phrase
- NCT07812181·NOT YET RECRUITING·An Open-Label Phase II Feasibility Study for the Use of Ublituximab in Adults With Down Syndrome Regression Disorder
Conditions: Down Syndrome Regression Disorder (DSRD) · Down Syndrome (Trisomy 21) · Neuroinflammatory / Neuropsychiatric Disorder·Matched via name phrase
- NCT06783725·RECRUITING·Sleep Intervention and Quality of Life in Down Syndrome
Conditions: Down Syndrome · Down Syndrome (Trisomy 21)·Matched via name phrase
- NCT07334912·RECRUITING·AEF0217 in Participants With Down Syndrome
Conditions: Down Syndrome (Trisomy 21)·Matched via name phrase
- NCT05231798·RECRUITING·Cholinergic Integrity in Down Syndrome in Association With Aging, Alzheimer's Disease Pathology, and Cognition
Conditions: Down Syndrome · Down Syndrome, Partial Trisomy 21 · Alzheimer Disease·Matched via name phrase
- NCT07234695·RECRUITING·LEvetiracetam to Prevent Seizures in Symptomatic Alzheimer's Disease in Adults With Down Syndrome
Conditions: Down Syndrome · Down Syndrome (DS) · Down Syndrome (Trisomy 21) · Alzheimer Dementia·Matched via name phrase
- NCT07658053·NOT YET RECRUITING·Effects of a Pacifier on Obstructive Sleep Apnea and Its Repercussions in Infants With Down Syndrome
Conditions: Obstructive Sleep Apnea · Down Syndrome (Trisomy 21)·Matched via name phrase
- NCT05970965·RECRUITING·Periodontitis and Inflammation in Children With Down Syndrome/Trisomy 21: Study on Biological Samples
Conditions: Periodontitis · Trisomy 21·Matched via name phrase
- NCT06938542·ENROLLING BY INVITATION·Palliative Care Needs of Children With Rare Diseases and Their Families
Conditions: Trisomy 13 Syndrome · Arthrogryposis Congenita Multiplex With Intestinal Atresia · Asparagine Synthetase Deficiency · CHARGE Syndrome·Matched via name phrase
- NCT07792382·NOT YET RECRUITING·Executive Function Play Opportunities for Children With Down Syndrome
Conditions: Down Syndrome · Trisomy 21·Matched via name phrase
- NCT06911944·NOT YET RECRUITING·Amyloid Lowering for Alzheimer's in Down's With Donanemab Investigation
Conditions: Down Syndrome (DS) · Down Syndrome (Trisomy 21) · Alzheimer Disease · Amyloid Beta Protein·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
- NCT03396562·RECRUITING·The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
Conditions: Klinefelter Syndrome · Trisomy X · XYY Syndrome · XXXY and XXXXY Syndrome·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 59 · after dedupe 58 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 58 · 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 (58)
- isrctn·ISRCTN78830591·Stopped·AML-BFM 2012: clinical trial for the treatment of acute myeloid leukemia in children and adolescents
skipped — LLM skipped (--skip-llm)
- ctis·2026-525382-47-00·Authorised·A Phase 2 Study of Alisertib in Combination with Paclitaxel in Patients with Small Cell Lung Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-520783-17-01·Authorised·Shared decision-making in uncomplicated appendicitis: a pragmatic randomized trial comparing patient-driven choice (antibiotics only or appendectomy) with systematic appendectomy (FRENCH 47 — ALACARTE trial)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523579-47-00·Authorised, recruiting·An Extension Study to Evaluate the Long-Term Safety and Efficacy of Afimkibart (RO7790121) in Patients with Rheumatoid Arthritis who Participated in Previous Afimkibart Clinical Trials
skipped — LLM skipped (--skip-llm)
- ctis·2026-525930-47-00·Cancelled·Pilot, randomized, crossover, comparative bioavailability study of two tadalafil formulations (oral suspension and film-coated tablets) after a single oral dose of 20 mg under fasting conditions in healthy male volunteers.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522970-35-00·Authorised, ongoing·REVERsal to normoglycemia by Treating PREDIABETES: the REVERT-PREDIABETES trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-514693-47-01·Authorised, ongoing·Increasing the dosing interval of osimertinib in patients with EGFR mutated locally advanced or meta-static non-small cell lung cancer - OSI-SAVE
skipped — LLM skipped (--skip-llm)
- ctis·2024-516906-47-00·Authorised, recruiting·A Randomized, Open-Label, Phase 2/3 Study of Datopotamab Deruxtecan (Dato-DXd) plus Carboplatin or Cisplatin versus Gemcitabine plus Carboplatin or Cisplatin in Participants with Locally Advanced or Metastatic Urothelial Carcinoma (la/mUC) who Progressed During or After Enfortumab Vedotin (EV) plus Pembrolizumab Combination Treatment.
TROPION-Urothelial03 (TU03).
skipped — LLM skipped (--skip-llm)
- ctis·2024-518500-47-00·Authorised, ongoing·Repurposing statins as adjuvants for cancer patients receiving therapy with immune checkpoint inhibitors: the STARK trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-521856-47-00·Authorised, ongoing·Treatment of Bile Acid Diarrhoea with Atorvastatin (BASTA)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517983-47-00·Authorised, ongoing·An Open-label Extension Study Evaluating the Long-term Safety, Tolerability, Efficacy, Pharmacokinetics, and Pharmacodynamics of VX-670 in Adult Subjects with Myotonic Dystrophy Type I
skipped — LLM skipped (--skip-llm)
- ctis·2025-520665-47-00·Authorised, ongoing·A Phase I/IIa Clinical Trial to Assess the Safety, Tolerability, and Efficacy of a Single Intravitreal Injection of SPVN20 Gene Therapy in Participants with Advanced Rod Cone Dystrophy
skipped — LLM skipped (--skip-llm)
- ctis·2024-518359-47-00·Authorised, recruiting·A Pivotal Phase 2/3, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Adaptive Design Study of L Annamycin for Injection in Combination with Cytarabine Injection Versus Placebo in Combination with Cytarabine Injection as Second Line Therapy for Remission Induction in Adult Subjects with Refractory/Relapsed Acute Myeloid Leukemia
skipped — LLM skipped (--skip-llm)
- ctis·2024-515847-47-00·Authorised, recruiting·Phase 2, Multicenter, Open label, Platform Study investigating Tarlatamab (AMG 757) in patients with Metastatic/Locally Advanced Small-Cell Lung Cancer (SCLC) and Other Poorly Differentiated Neuroendocrine Carcinomas (NECs), with biomarker analysis to characterize response/resistance (UNLOCK TARLATAMAB)
skipped — LLM skipped (--skip-llm)
- ctis·2022-501830-47-01·Authorised·Monocentric Pilot Trial evaluating the safety and efficacy of Regorafenib in Arterio-Venous Malformations that are refractory to standard care
skipped — LLM skipped (--skip-llm)
- ctis·2024-514023-42-00·Cancelled·ACAV: EFFICACY AND SAFETY OF ALIROCUMAB TO PREVENT EARLY CARDIAC ALLOGRAFT VASCULOPATHY IN RECENT HEART TRANSPLANT RECIPIENTS
skipped — LLM skipped (--skip-llm)
- ctis·2024-510802-10-00·11·The impact of pramlintide on top of semaglutide in obese people with prediabetes
skipped — LLM skipped (--skip-llm)
- ctis·2024-518104-47-00·Cancelled·A clinical study of MK-2420 in healthy men (MK-2420-003)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519104-27-00·Cancelled·Potential of FX06 to improve disease severity in Acute Respiratory Distress Syndrome patients (Ixion 2.0)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514785-39-00·Authorised, ongoing·"Imaging with 68Ga-DOTA-peptides and peptide receptor radionuclide therapy with 177Lu-DOTA-peptides of gastroenteropancreatic neuroendocrine tumors: interest of intra-arterial hepatic infusion in patients with dominant liver metastases" "LUTARTERIAL"
skipped — LLM skipped (--skip-llm)
- ctis·2024-515871-37-00·Expired·OPUS-2 - Oral S1P1 Receptor ModUlation in SLE: A Phase 3, multicenter, randomized, double-blind, placebo-controlled, parallel-group study to evaluate the efficacy, safety, and tolerability of cenerimod in adult subjects with moderate-to-severe systemic lupus erythematosus (SLE) on top of background therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-516072-15-00·Authorised, ongoing·Propofol and Thiopental for intravenous induction in neonates: a dose-finding study (The ProThio Study)
skipped — LLM skipped (--skip-llm)
- ctis·2023-506109-20-00·Authorised, ongoing·An interventional, multi-center, randomized, double blinded, placebo controlled study to investigate semaglutide add-on treatment for metabolic control in antipsychotic-using patients (STABIL-NOR – study)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515616-47-00·Expired·A Randomized, Double-Blind, Controlled Phase 3 Study of Cabozantinib in Combination with Nivolumab and Ipilimumab versus Nivolumab and Ipilimumab in Subjects with Previously Untreated Advanced or Metastatic Renal Cell Carcinoma of Intermediate or Poor Risk
skipped — LLM skipped (--skip-llm)
- ctis·2023-507091-47-00·Revoked·A Phase 1, Open-Label, Multicenter Study of INCB161734 in Participants With Advanced or Metastatic Solid Tumors with KRAS G12D Mutation
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 Trisomy X 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.
"Trisomy X syndrome" OR "47,XXX syndrome" OR "Triplo-X syndrome" OR "XXX syndrome" OR "47,XXX" OR "triple X syndrome" OR "trisomy X" OR "trisomy type X"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Trisomy X syndrome" OR "47,XXX syndrome" OR "Triplo-X syndrome" OR "XXX syndrome" OR "47,XXX" OR "triple X syndrome" OR "trisomy X" OR "trisomy type X"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"trisomy"
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 2026-07-26T23:00:57.629Z