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ORPHA:216804

Osteogenesis imperfecta type 2

medium confidenceSubtype of disorder

Also known as: Lethal osteogenesis imperfecta · OI type 2

Publications

546

76.4th percentile

Trials

2

Interventional, condition-specific

Researchers

1,395

Distinct authors in sample

Gene link

COL1A2

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.

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)

OI2 · Vrolik type of osteogenesis imperfecta · lethal osteogenesis imperfecta · osteogenesis imperfecta type 2 · osteogenesis imperfecta type II

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 — COL1A2

  2. LiteraturePresent

    546 matched papers (175 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 (1 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 (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?

546

546 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.

546 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).

175 in the last 10 years · medium confidence · 76.4th percentile (publications denominator)

Phrase hits: 525 · MeSH hits: 27

Open Europe PMC search

Who's working on it?

1,395

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
    Marini JC6 papers · 2025

    Section on Heritable Disorders of Bone and Extracellular Matrix, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, United States. Electronic address: oidoc@helix.nih.gov.

    Papers in Europe PMC
  2. 02
    Micha D5 papers · 2026

    Department of Clinical Genetics, Amsterdam Movement Sciences, Amsterdam University Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  3. 03
    Chen Y4 papers · 2025

    Department of Neonatal Medicine, Xin-Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC
  4. 04
    Drögemüller C4 papers · 2025

    Institute of Genetics, Vetsuisse Faculty, University of Bern, CH-3012, Bern, Switzerland.

    Papers in Europe PMC
  5. 05
    Eekhoff EMW4 papers · 2026

    Department of Internal Medicine, Section Endocrinology, Amsterdam Bone Center, Amsterdam University Medical Center, Amsterdam, The Netherlands.

    Papers in Europe PMC
  6. 06
    Hasegawa T4 papers · 2012
    Papers in Europe PMC
  7. 07
    Liu Y4 papers · 2025

    Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100026, China.

    Papers in Europe PMC
  8. 08
    Stewart F4 papers · 2010

    Department of Clinical Genetics, Belfast City Hospital Belfast

    Papers in Europe PMC
  9. 09
    Wang W4 papers · 2020
    Papers in Europe PMC
  10. 10
    Zhang L4 papers · 2026

    Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, Engineering Research Center of Oral Biomaterials and Devices of Zhejiang Province, Hangzhou, China.

    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; 1 currently recruiting in our sample. 58 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

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.

Broader category: osteogenesis imperfecta

58

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

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 2" OR "Lethal osteogenesis imperfecta" OR "OI type 2" OR "Vrolik type of osteogenesis imperfecta" OR "Vrolik type of the osteogenesis imperfecta" OR "osteogenesis imperfecta type II"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Osteogenesis imperfecta, type 2A

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

"Osteogenesis imperfecta type 2" OR "Lethal osteogenesis imperfecta" OR "OI type 2" OR "Vrolik type of osteogenesis imperfecta" OR "Vrolik type of the osteogenesis imperfecta" OR "osteogenesis imperfecta type II" OR "Osteogenesis imperfecta, type 2A" OR "COL1A2"

Recall-expansion terms: 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: 2 interventional · 0 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: OI2

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 2026-07-27T09:42:05.467Z