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ORPHA:666

Osteogenesis imperfecta

medium confidenceDisorder

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

Publications

144,604

99.7th percentile

Trials

60

Interventional, condition-specific

Researchers

1,136

Distinct authors in sample

Gene link

CCDC134, COL1A1, COL1A2

Definitive

Readiness

6/6

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.”

6/6 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

    144,604 matched papers (90,834 in last 10 years) Source

  3. Phenotype characterisedPresent

    1,590 HPO annotations (e.g. Micrognathia; Visual impairment; Blue sclerae) Source

  4. Animal modelPresent

    54 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPresent

    3 FDA · 5 EMA designations (3 FDA orphan-indication approvals) — e.g. denosumab Source

  6. Interventional trialPresent

    60 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)

1,590

Associated phenotypes · MONDO:0019019

  • Micrognathia
  • Visual impairment
  • Blue sclerae
  • Dental malocclusion
  • Dentinogenesis imperfecta

Showing 5 of 1590 — open Monarch for the full list.

Animal models (Monarch / Alliance)

54

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)

8

Designations · 3 with FDA orphan-indication approval

  • FDA denosumabOsteogenesis Imperfecta · 2021-02-02 · Not FDA Approved for Orphan Indication
  • FDA risedronate sodiumOsteogenesis Imperfecta · 2006-12-18 · Not FDA Approved for Orphan Indication
  • FDA alendronateOsteogenesis Imperfecta · 2003-03-31 · Not FDA Approved for Orphan Indication
  • EMA recombinant humanised monoclonal IgG2 lambda antibody against human sclerostinTreatment of osteogenesis imperfecta · 27/06/2016 · PositiveEMA designation
  • EMA losartanTreatment of osteogenesis imperfecta · 21/06/2022 · PositiveEMA designation
  • EMA Humanised IgG4 bispecific monoclonal antibody against sclerostin and dickkopf-related protein 1Treatment of osteogenesis imperfecta · 20/06/2025 · PositiveEMA designation
  • EMA allogenic fetal mesenchymal stem cellsTreatment of osteogenesis imperfecta · 10/12/2021 · PositiveEMA designation
  • EMA human allogeneic bone-marrow-derived osteoblastic cellsTreatment of osteogenesis imperfecta · 10/08/2015 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

17

Drugs / clinical candidates · MONDO_0019019

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

144,604

144,604 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.

144,604 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).

90,834 in the last 10 years · medium confidence · 99.7th 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?

60

interventional trials for this specific condition

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

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

60 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.6th percentile).

medium confidence · 97.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

23 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

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 51 · after dedupe 49 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 49 · dropped 0 · fetched 2026-07-29

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 (49)

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 Osteogenesis imperfecta — check Associations / patient organisations on that page.

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") OR ("CCDC134" OR "CCDC134 syndrome" OR "CCDC134-related" OR "COL1A1" OR "COL1A1 syndrome" OR "COL1A1-related" OR "COL1A2" OR "COL1A2 syndrome" OR "COL1A2-related")

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"

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: 60 interventional · 23 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

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