ORPHA:459051
Spondyloepiphyseal dysplasia, Stanescu type
Also known as: SED, Stanescu type
Publications
35,286
Trials
0
Interventional, condition-specific
Researchers
182
Distinct authors in sample
Gene link
COL2A1
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare spondyloepiphyseal characterized by joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.
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:0014701
- OMIM:616583
- UMLS:C4225273
Additional Mondo synonyms (2)
SEDSTN · spondyloepiphyseal dysplasia, Stanescu type
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
Moderate — COL2A1
- LiteraturePresent
35,286 matched papers (20,140 in last 10 years) Source
- Phenotype characterisedPresent
14 HPO annotations (e.g. Stiff neck; Internal tibial torsion; Arthralgia) 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?
Probably — there is moderate evidence for COL2A1.
GenCC classification: Moderate.
Phenotypes (Monarch / HPO)
14
Associated phenotypes · MONDO:0014701
- Stiff neck
- Internal tibial torsion
- Arthralgia
- Hypoplastic ilia
- Platyspondyly
Showing 5 of 14 — 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?
35,286
35,286 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
35,286 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).
20,140 in the last 10 years · low confidence
Phrase hits: 22 · MeSH hits: 0
Who's working on it?
182
Distinct author names in 22 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.
- 01Bateman JF2 papers · 2022
Musculoskeletal Research, Murdoch Children's Research Institute, Melbourne, Australia.
Papers in Europe PMC - 02DiStefano M2 papers · 2026
Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, MA 02139, USA.
Papers in Europe PMC - 03Huang J2 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, China.
Papers in Europe PMC - 04Lamandé SR2 papers · 2022
Musculoskeletal Research, Murdoch Children's Research Institute, Melbourne, Australia.
Papers in Europe PMC - 05Yeter B2 papers · 2025
University of Health Sciences Türkiye, Ümraniye Training and Research Hospital,, Clinic of Pediatric Genetics, İstanbul, Türkiye
Papers in Europe PMC - 06Ahmed S1 paper · 1989Papers in Europe PMC
- 07Akgülle AH1 paper · 2025
Marmara University Faculty of Medicine, Department of Orthopaedics Surgery and Traumatology, İstanbul, Türkiye
Papers in Europe PMC - 08An W1 paper · 2025
Medical Department, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 09Arseni L1 paper · 2018
Department of Molecular Genetics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany. l.arseni@dkfz-heidelberg.de.
Papers in Europe PMC - 10Aulthouse AL1 paper · 1989Papers 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.
Broader category spondyloepiphyseal dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: spondyloepiphyseal dysplasia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 8 · after dedupe 8 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 8 · dropped 0 · fetched 2026-07-30
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 (8)
- ctis·2026-526383-20-00·Authorised·B-HAPPI: Bipolar disorder and high-dose adjunctive pramipexole for anhedonic depression – a phase III, double-blind, randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-523912-35-00·Authorised·A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ALKS 2680 in Adults With Narcolepsy Type 2
skipped — LLM skipped (--skip-llm)
- ctis·2025-524841-28-00·Cancelled·KET01-IIT03: A Pilot, Open-label Phase II Trial of Adjunctive Treatment with Ketamine Hydrochloride Prolonged-Release Tablets (KET01) during the Initiation of Antidepressant Therapy in Major Depressive Disorder
skipped — LLM skipped (--skip-llm)
- ctis·2025-522805-39-00·Authorised, ongoing·A Phase II, Randomized, Open-Label Study Evaluating Two Inavolisib Dose Levels in Combination with Fulvestrant in Participants with PIK3CA-Mutated, HR-Positive, HER2-Negative Locally Advanced or Metastatic Breast Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2023-508307-21-00·Authorised, ongoing·A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Efficacy and Safety Study of Pitolisant Followed by an Open-Label Extension in Patients with Prader-Willi Syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2024-516123-13-00·Expired·Tiratricol treatment of children with Monocarboxylate Transporter 8 deficiency: Triac Trial II (MCT8-2019-2)
skipped — LLM skipped (--skip-llm)
- ctis·2023-507342-84-00·Expired·A Phase III Randomized, Open-Label, Multicenter Study to Determine the Efficacy and Safety of Durvalumab in Combination With Tremelimumab and Enfortumab Vedotin or Durvalumab in Combination With Enfortumab Vedotin for Perioperative Treatment in Patients Ineligible for Cisplatin or Who Refuse Cisplatin Undergoing Radical Cystectomy for Muscle Invasive Bladder Cancer (VOLGA)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509137-39-00·Cancelled·A randomized, phase 3 trial with anti-PD-1 monoclonal antibody pembrolizumab (MK-3475) versus placebo for patients with early stage NSCLC after resection and completion of standard adjuvant therapy (PEARLS) KEYNOTE-091
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 Spondyloepiphyseal dysplasia, Stanescu type — 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.
("Spondyloepiphyseal dysplasia, Stanescu type" OR "SED, Stanescu type" OR "SEDSTN") OR ("COL2A1" OR "COL2A1 syndrome" OR "COL2A1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Spondyloepiphyseal dysplasia, Stanescu type" OR "SED, Stanescu type" OR "SEDSTN"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"spondyloepiphyseal dysplasia"
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 (35286) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T16:53:20.221Z