ORPHA:1027
Autosomal recessive amelia
Publications
1,662
Trials
0
Interventional, condition-specific
Researchers
23
Distinct authors in sample
Gene link
TBX4
Strong
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011054
- MeSH:C563338
- OMIM:601360
- UMLS:C1832432
Additional Mondo synonyms (1)
Amelia, posterior, with pelvic and pulmonary hypoplasia 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.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — TBX4
- LiteraturePresent
1,662 matched papers (1,194 in last 10 years) Source
- Phenotype characterisedPresent
2 HPO annotations (e.g. Amelia) 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?
Yes — we know a specific gene responsible (TBX4).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
2
Associated phenotypes · MONDO:0011054
- Amelia
Showing 1 of 2 — 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?
1,662
1,662 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.
1,662 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).
1,194 in the last 10 years · low confidence
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
23
Distinct author names in 1 sampled paper — 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.
- 01Amar E1 paper · 2011Papers in Europe PMC
- 02Bakker MK1 paper · 2011Papers in Europe PMC
- 03Bermejo-Sánchez E1 paper · 2011
Instituto de Investigación de Enfermedades Raras, Madrid, Spain. eva.bermejo@isciii.es
Papers in Europe PMC - 04Bianca S1 paper · 2011Papers in Europe PMC
- 05Bianchi F1 paper · 2011Papers in Europe PMC
- 06Canfield MA1 paper · 2011Papers in Europe PMC
- 07Castilla EE1 paper · 2011Papers in Europe PMC
- 08Clementi M1 paper · 2011Papers in Europe PMC
- 09Cocchi G1 paper · 2011Papers in Europe PMC
- 10Cuevas L1 paper · 2011Papers 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.
low 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 60 · 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)
- 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·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·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·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·2024-518016-39-00·Authorised, recruiting·A Phase 2b/Phase 3, randomized, double-blind, placebo-controlled, multicenter study, to investigate the efficacy and safety of lunsekimig in adult participants with inadequately controlled chronic obstructive pulmonary disease (COPD) characterized by an eosinophilic phenotype
skipped — LLM skipped (--skip-llm)
- ctis·2025-521929-32-01·Authorised·AugmENtation witH cAnnabidiol iN first episode psyChosis: a doublE blind randomised controlled trial (STEP-ENHANCE Trial)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521971-29-00·Authorised·A Phase 3 Multicenter Double-blind Randomized Study of Taletrectinib Versus Placebo in Patients With ROS1-Fusion Positive Stage IB-IIIA Non-Small Cell Lung Cancer Who Have Undergone Complete Tumor Resection
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·2025-523432-39-01·Authorised·A Phase 1/2, Open-label Study of VS-7375, a KRAS G12D (ON/OFF) Inhibitor, as Monotherapy and in Combination, in Patients with Advanced KRAS G12D-Mutant Solid Tumors
skipped — LLM skipped (--skip-llm)
- ctis·2025-523570-17-00·Authorised·A randomized, Phase 2a, double-blinded, biomarker-driven, placebo-controlled study to assess safety, CNS penetration, and target engagement of Mirivadelgat in Parkinson’s disease – SLEIPNIR-2, a sub-protocol in the SLEIPNIR platform trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523280-38-00·Authorised, ongoing·An Open-Label, Rollover Study for Participants With Thyroid Eye Disease Previously Enrolled in Amgen-Sponsored AMG 732 Studies and are Primary Proptosis Non-responders or who Relapsed During the Safety Follow-up
skipped — LLM skipped (--skip-llm)
- ctis·2025-524408-30-01·Authorised, recruiting·Phase III Randomized, International, Open-Label Clinical Trial of Treatment Intensification with Docetaxel plus Apalutamide in Patients with Metastatic Hormone-Sensitive Prostate Cancer Who Did Not Achieve a Deep PSA Response After Initial Treatment with Apalutamide: REINFORCE Trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523567-38-00·Authorised, ongoing·Beamion 44: A randomized, open-label, multi-center Phase IIa platform trial to evaluate the safety and tolerability of zongertinib plus Pt-doublet with or without pembrolizumab (and potential other combinations) in treatment-naïve patients with locally advanced/metastatic non-squamous NSCLC with activating HER2 mutations
skipped — LLM skipped (--skip-llm)
- ctis·2025-523389-26-00·Authorised, recruiting·A Phase 3, Multi-regional, Open-label, Randomized Study of Tirabrutinib vs Rituximab and Temozolomide in Participants with Relapsed/Refractory Primary Central Nervous System Lymphoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-520565-51-00·Authorised, recruiting·DAREON®-Lung-1: A Phase III multi-center, open-label, randomised trial of intravenous obrixtamig in combination with atezolizumab, carboplatin, and etoposide vs. atezolizumab, carboplatin, and etoposide as first-line treatment in patients with extensive-stage small cell lung cancer.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523285-25-00·Authorised·A Phase III Open-label, Randomised, Multicentre Study Comparing AZD0120, a Dual-Targeting Autologous Chimeric Antigen Receptor T-cell (CAR-T) Therapy Directed Against BCMA and CD19, versus Standard Regimens in Participants with Relapsed Refractory Multiple Myeloma (DURGA-4)
skipped — LLM skipped (--skip-llm)
- ctis·2024-518858-17-00·Authorised, recruiting·The MAVRiC Study: A Phase II Study of Disease Risk Mutation-guided Finite Duration Acalabrutinib plus Venetoclax for Relapse in CLL/SLL after First-line Finite covalent BTKi plus BCL2i combination, with or without Obinutuzumab
skipped — LLM skipped (--skip-llm)
- ctis·2025-522051-26-00·Authorised, recruiting·A Phase 3, Randomized, Double-blind, Placebo-controlled, 3-Part Study to Evaluate the Efficacy and Safety of Orally Administered Deucrictibant XR Tablet for Prophylaxis and Deucrictibant Soft Capsule for On-demand Treatment of Angioedema Attacks in Adults with Acquired Angioedema due to C1 Inhibitor Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-511790-30-00·Authorised·APICALE - Cervical facet injection of corticosteroids for the management of cervicobrachialgia : protocol for a randomized pilot study
skipped — LLM skipped (--skip-llm)
- ctis·2025-521713-57-00·Authorised·A Phase 1/2a Study of REGN7041 (anti-CD3 monoclonal antibody) in patients with Active Noninfectious Uveitis affecting the Posterior Segment
skipped — LLM skipped (--skip-llm)
- ctis·2025-522873-12-00·Authorised, ongoing·A phase 3 randomized, double-blind, active-controlled study of palazestrant with ribociclib versus letrozole with ribociclib for the first-line treatment of ER+, HER2- advanced breast cancer (OPERA-02)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522015-42-00·Authorised, ongoing·A Phase 2b/3, Open-Label, Multicenter Trial Evaluating the Efficacy and Safety of Switching to Brelovitug for the Treatment of Chronic Hepatitis Delta Infection in Participants Receiving Bulevirtide (AZURE-3)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521805-41-00·Authorised, ongoing·Patient-Centered Study of Trastuzumab Deruxtecan (T-DXd) in First-Line HER2-POsitive Metastatic Breast Cancer with Proactive Toxicity ManagementReflecting Real-World Clinical Practice / TOP-REAL Trial
skipped — LLM skipped (--skip-llm)
- ctis·2024-515765-34-00·Authorised, ongoing·A Phase III, multisite, double-blinded randomized trial of BNT327 in combination with chemotherapy (etoposide/carboplatin) compared to atezolizumab in combination with chemotherapy (etoposide/carboplatin) in participants with first-line extensive-stage small-cell lung cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-522233-62-00·Authorised, ongoing·A multi-center, open-label Phase 1/2 study to evaluate the safety, efficacy, PK and PD of ONA-255 in study participants with advanced cancer
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 Autosomal recessive amelia — 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.
("Autosomal recessive amelia" OR "Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome") OR ("TBX4" OR "TBX4 syndrome" OR "TBX4-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive amelia" OR "Amelia, posterior, with pelvic and pulmonary hypoplasia 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1662) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T16:14:03.500Z