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ORPHA:216812

Osteogenesis imperfecta type 3

low confidenceSubtype of disorder

Also known as: OI type 3 · Progressive deforming osteogenesis imperfecta · Severe osteogenesis imperfecta

Publications

1,091

Trials

7

Interventional, condition-specific

Researchers

1,123

Distinct authors in sample

Gene link

COL1A1, COL1A2

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.

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)

OI3 · osteogenesis imperfecta type 3 · osteogenesis imperfecta type III · progressive deforming osteogenesis imperfecta · severe osteogenesis imperfecta

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 — COL1A1, COL1A2

  2. LiteraturePresent

    1,091 matched papers (611 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

    7 matched on ClinicalTrials.gov (2 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 (COL1A1, COL1A2).

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?

1,091

1,091 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.

1,091 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).

611 in the last 10 years · low confidence

Phrase hits: 1,091 · MeSH hits: 31

Open Europe PMC search

Who's working on it?

1,123

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
    Rauch F8 papers · 2024

    Shriners Hospital for Children-Canada, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada. Electronic address: frauch@shriners.mcgill.ca.

    Papers in Europe PMC
  2. 02
    Semler O6 papers · 2026

    Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  3. 03
    Chetty M5 papers · 2021

    1Faculty of Dentistry, University of the Western Cape, Bellville, Cape Town, South Africa.

    Papers in Europe PMC
  4. 04
    David AL5 papers · 2026

    Elizabeth Garrett Anderson Institute for Women's Health, University College London, London, UK.

    Papers in Europe PMC
  5. 05
    Jakubowska-Pietkiewicz E5 papers · 2025

    Department of Pediatrics, Newborn Pathology and Bone Metabolic Diseases, Medical University of Lodz, Lodz, Poland.

    Papers in Europe PMC
  6. 06
    Madhuri V5 papers · 2025

    Department of Pediatric Orthopedics, Christian Medical College, Ida Scudder Road, Vellore, Tamil Nadu, India. madhuriwalter@cmcvellore.ac.in.

    Papers in Europe PMC
  7. 07
    Beighton P4 papers · 2021

    2University of the Western Cape/University of Cape Town Collaborative Dental Genetics Clinic, Red Cross Children's Hospital, Cape Town, South Africa.

    Papers in Europe PMC
  8. 08
    Boraschi-Diaz I4 papers · 2023

    Shriners Hospital for Children-Canada, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada.

    Papers in Europe PMC
  9. 09
    Franzone JM4 papers · 2026

    Sidney Kimmel Medical College at Thomas Jefferson University Philadelphia Pennsylvania USA.

    Papers in Europe PMC
  10. 10
    Götherström C4 papers · 2026

    Department of Clinical Science, Intervention and Technology, Division of Obstetrics and Gynecology, Karolinska Institutet, Stockholm, Sweden.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 53 trials are registered for osteogenesis imperfecta, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

low confidence · 89.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: osteogenesis imperfecta

53

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

1 observational study matches 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

Likely covered — the policy lists Osteogenesis imperfecta as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

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 type 3" OR "OI type 3" OR "Progressive deforming osteogenesis imperfecta" OR "Severe osteogenesis imperfecta" OR "osteogenesis imperfecta type III"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Osteogenesis imperfecta, type 3

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

"Osteogenesis imperfecta type 3" OR "OI type 3" OR "Progressive deforming osteogenesis imperfecta" OR "Severe osteogenesis imperfecta" OR "osteogenesis imperfecta type III" OR "Osteogenesis imperfecta, type 3" OR "COL1A1" OR "COL1A2"

Recall-expansion terms: COL1A1, COL1A2

Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 7 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"osteogenesis imperfecta"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OI3

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 (1091) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:42:17.187Z