ORPHA:295018
Congenital pseudoarthrosis of the tibia
Also known as: Congenital pseudarthrosis of the tibia
Publications
621
82.9th percentile
Trials
5
Interventional, condition-specific
Researchers
769
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare bone development disorder characterized by mostly anterolateral bowing of the tibia usually evident at birth, with subsequent non-healing fractures and formation of a false joint (pseudoarthrosis), and instability and angulation at the pseudoarthrosis site. In the vast majority of patients the defect is unilateral, and more than half of the cases are associated with neurofibromatosis type 1.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017462
- UMLS:C0265661
- NCIT:C132080
Additional Mondo synonyms (2)
congenital pseudarthrosis of the tibia · congenital pseudarthrosis of tibia
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
621 matched papers (266 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 trialPresent
5 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
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?
621
621 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=5449) is 41.
621 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).
266 in the last 10 years · high confidence · 82.9th percentile (publications denominator)
Phrase hits: 621 · MeSH hits: 0
Who's working on it?
769
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Mei H34 papers · 2026
Department of Pediatric Orthopaedics, Hunan Children's Hospital, The Pediatric Academy of the University of South China, 86# Ziyuan Road, Changsha, Hunan Province, 410007, People's Republic of China. meihaiboprof@outlook.com.
Papers in Europe PMC - 02Zhu G31 papers · 2026
Department of Pediatric Orthopaedics, Hunan Children's Hospital, The Pediatric Academy of the University of South China, 86# Ziyuan Road, Changsha, Hunan Province, 410007, People's Republic of China.
Papers in Europe PMC - 03Liu K27 papers · 2026
Orthopedic Department, The School of Pediatrics, University of South China, Affiliated Children's Hospital of Xiangya School of Medicine, Central South University (Hunan Children's Hospital).
Papers in Europe PMC - 04Liu Y27 papers · 2026
Department of Pediatric Orthopaedics, Hunan Children's Hospital, The Pediatric Academy of University of South China, Changsha City, Hunan Province, China.
Papers in Europe PMC - 05Yang G25 papers · 2026
Pediatric orthopedic lab, Department of Orthopedic Surgery, the Hunan Children's Hospital, Hunan 410000, PR China.
Papers in Europe PMC - 06Tan Q18 papers · 2026
Pediatric orthopedic lab, Department of Orthopedic Surgery, the Hunan Children's Hospital, Hunan 410000, PR China.
Papers in Europe PMC - 07Wu J9 papers · 2024
Academy of Pediatrics of University of South China, Department of Pediatric Orthopaedics, Hunan Children's Hospital, Changsha, 410007, China.
Papers in Europe PMC - 08Huang Y8 papers · 2024
Department of Orthopedics, Hunan Provincial Key Laboratory of Pediatric Orthopedics, Hunan Children's Hospital, Changsha, Hunan, China.
Papers in Europe PMC - 09Yan A7 papers · 2024
Department of Pediatric Orthopaedics, Hunan Children's Hospital, The Pediatric Academy of the University of South China, 86# Ziyuan Road, Changsha, Hunan Province, 410007, People's Republic of China.
Papers in Europe PMC - 10Zheng Y7 papers · 2025
Pediatrics Research Institute of Hunan Province, Hunan Children's Hospital, 86 Ziyuan Road, Changsha, Hunan Province, People's Republic of China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
5
interventional trials for this specific condition
5 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).
high confidence · 87.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07112443·RECRUITING·A Study to Assess How Effective and Safe NVD003 is for Treating Patients With Congenital Pseudarthrosis of the Tibia.
Conditions: Congenital Pseudarthrosis of Tibia·Matched via name phrase
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
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.
"Congenital pseudoarthrosis of the tibia" OR "Congenital pseudoarthrosis of tibia" OR "Congenital pseudarthrosis of the tibia" OR "Congenital pseudarthrosis of tibia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital pseudoarthrosis of the tibia" OR "Congenital pseudoarthrosis of tibia" OR "Congenital pseudarthrosis of the tibia" OR "Congenital pseudarthrosis of tibia"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 5 interventional · 1 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
Ingested 2026-07-27T12:31:44.500Z