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ORPHA:666

Osteogenesis imperfecta

medium confidenceDisorder

Also known as: OI · Brittle bone disease · Glass bone disease · Lobstein disease

Publications

17,480

98.3th percentile

Trials

61

Interventional, condition-specific

Researchers

1,136

Distinct authors in sample

Gene link

CCDC134, COL1A1, COL1A2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Osteopsathyrosis · Porak and Durante disease · brittle bone disease · glass bone disease

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

    Definitive — CCDC134, COL1A1, COL1A2, FKBP10, KIF5B…

  2. LiteraturePresent

    17,480 matched papers (8,191 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

    61 matched on ClinicalTrials.gov (9 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?

Yes — we know a specific gene responsible (CCDC134, COL1A1, COL1A2…).

GenCC classification: Definitive.

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?

17,480

17,480 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=5449) is 41.

17,480 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).

8,191 in the last 10 years · medium confidence · 98.3th percentile (publications denominator)

Phrase hits: 17,480 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,136

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
    Lee B5 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine.

    Papers in Europe PMC
  2. 02
    Semler O5 papers · 2026

    University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  3. 03
    Carriero A4 papers · 2026

    Department of Biomedical Engineering, The City College of New York, New York, NY 10031, United States. Electronic address: acarriero@ccny.cuny.edu.

    Papers in Europe PMC
  4. 04
    Carter EM4 papers · 2026

    Hospital for Special Surgery, 535 East 70th Street, New York, NY, 10021, USA.

    Papers in Europe PMC
  5. 05
    Colombo GM4 papers · 2026

    Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine.

    Papers in Europe PMC
  6. 06
    Franzone JM4 papers · 2026

    Nemours Children's Health, Wilmington, DE.

    Papers in Europe PMC
  7. 07
    Krakow D4 papers · 2026

    Department of Orthopaedic Surgery, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA, United States.

    Papers in Europe PMC
  8. 08
    Li Y4 papers · 2026

    Department of Obstetric, Liuzhou Maternal and Child Care Service Centre, Liuzhou, People's Republic of China.

    Papers in Europe PMC
  9. 09
    Liu W4 papers · 2026

    Department of Medicine, Bone and Mineral Unit, Oregon Health & Science University, Portland, OR, USA.

    Papers in Europe PMC
  10. 10
    Murali CN4 papers · 2026

    Department of Molecular and Human Genetics, Baylor College of Medicine.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

61

interventional trials for this specific condition

61 interventional trials matched this specific condition name; 9 currently recruiting in our sample.

Data as of 27 July 2026

61 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.5th percentile).

medium confidence · 97.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

24 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.

Recruiting or not-yet-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

Directly listed under NPRD Group 2.

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

"Osteogenesis imperfecta" OR "Brittle bone disease" OR "Glass bone disease" OR "Lobstein disease" OR "Osteopsathyrosis" OR "Porak and Durante disease"

Run this search on Europe PMC

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

"Osteogenesis imperfecta" OR "Brittle bone disease" OR "Glass bone disease" OR "Lobstein disease" OR "Osteopsathyrosis" OR "Porak and Durante disease" OR "CCDC134" OR "COL1A1" OR "COL1A2" OR "FKBP10" OR "KIF5B" OR "SUCO"

Recall-expansion terms: CCDC134, COL1A1, COL1A2, FKBP10, KIF5B, SUCO

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: 61 interventional · 24 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OI

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 2026-07-26T14:49:32.016Z