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ORPHA:85193

Idiopathic juvenile osteoporosis

medium confidenceDisorder

Also known as: IJO · Juvenile osteoporosis

Publications

942

90.9th percentile

Trials

2

Interventional, condition-specific

Researchers

1,142

Distinct authors in sample

Gene link

WNT1

Strong

Readiness

3/6

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — WNT1

  2. LiteraturePresent

    942 matched papers (560 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

942

942 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.

942 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).

560 in the last 10 years · medium confidence · 90.9th percentile (publications denominator)

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 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

medium confidence · 82.4th 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

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 2026-07-26

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"

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" OR "WNT1"

Recall-expansion terms: WNT1

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, recall-expansion; 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

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