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ORPHA:85193

Idiopathic juvenile osteoporosis

low confidenceDisorder

Also known as: IJO · Juvenile osteoporosis

Publications

16,635

Trials

2

Interventional, condition-specific

Researchers

1,142

Distinct authors in sample

Gene link

WNT1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

Ijo · Paediatric osteoporosis · Pediatric osteoporosis · idiopathic juvenile osteoporosis · juvenile osteoporosis

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — WNT1

  2. LiteraturePresent

    16,635 matched papers (9,599 in last 10 years) Source

  3. Phenotype characterisedPresent

    7 HPO annotations (e.g. Osteoporosis; Recurrent fractures; Kyphosis) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov

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 (WNT1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

7

Associated phenotypes · MONDO:0019409

  • Osteoporosis
  • Recurrent fractures
  • Kyphosis
  • Gait disturbance
  • Bone pain

Showing 5 of 7 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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

4

Drugs / clinical candidates · MONDO_0019409

CTD chemicals (MyDisease.info)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Ergocalciferols · therapeutic

MyDisease.info · MONDO:0019409

Literature

Is anyone studying this?

16,635

16,635 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.

16,635 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).

9,599 in the last 10 years · low confidence

Phrase hits: 942 · MeSH hits: 25

Open Europe PMC search

Who's working on it?

1,142

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.

  1. 01
    Sharn AR4 papers · 2026

    Global Medical Affairs and Research, Abbott Nutrition Division of Abbott, 2900 Easton Square Place, Columbus, OH 43219, USA.

    Papers in Europe PMC
  2. 02
    Abdel-Rahman S3 papers · 2024

    Division of Clinical Pharmacology, Medical Toxicology, and Therapeutic Innovation, Children's Mercy Hospital, Kansas City, Missouri, USA.

    Papers in Europe PMC
  3. 03
    Becker PJ3 papers · 2023

    (4)Dayton Children's Hospital Medical Center, Dayton, OH.

    Papers in Europe PMC
  4. 04
    Zhang J3 papers · 2026

    Department of Maternal and Child Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

    Papers in Europe PMC
  5. 05
    Armon K2 papers · 2025

    Department of Paediatrics, , ,

    Papers in Europe PMC
  6. 06
    Bailey K2 papers · 2025

    Department of Paediatric Rheumatology, , ,

    Papers in Europe PMC
  7. 07
    Becker P2 papers · 2024

    Dayton Children's Hospital, Ohio, USA.

    Papers in Europe PMC
  8. 08
    Chen Y2 papers · 2026

    Department of Clinical Nutrition, Rush University Medical Center, Chicago, Illinois, USA.

    Papers in Europe PMC
  9. 09
    Chen Z2 papers · 2025

    Department of Radiology, Hainan Hospital of PLA General Hospital, 572013 Sanya, Hainan, China.

    Papers in Europe PMC
  10. 10
    Chia DT2 papers · 2025

    Department of Paediatrics, , ,

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 1,213 trials are registered for osteoporosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: osteoporosis

1,213

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

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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 4 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 Idiopathic juvenile osteoporosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Idiopathic juvenile osteoporosis" OR "Juvenile osteoporosis" OR "Paediatric osteoporosis" OR "Pediatric osteoporosis") OR (MESH:"Juvenile osteoporosis") OR ("WNT1" OR "WNT1 syndrome" OR "WNT1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Juvenile osteoporosis

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Idiopathic juvenile osteoporosis" OR "Juvenile osteoporosis" OR "Paediatric osteoporosis" OR "Pediatric osteoporosis"

Interventional trials matched via: both, 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: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"osteoporosis"

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: IJO

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (16635) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T02:49:00.401Z