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ORPHA:216796

Osteogenesis imperfecta type 1

low confidenceSubtype of disorder

Also known as: Non-deforming osteogenesis imperfecta · OI type 1 · Van der Hoeve syndrome · Adair-Dighton syndrome · Mild osteogenesis imperfecta

Publications

1,497

Trials

2

Interventional, condition-specific

Researchers

1,122

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A mild form of osteogenesis imperfecta (OI) characterized by increased bone fragility and low bone mass that clinically manifests with increased susceptibility to bone fractures (including vertebral crush fractures), normal height or short stature (typically between 0 and -2.0 SD scores), mild (Cobb angle <30 degrees) or no scoliosis, blue sclera, and in dentinogenesis imperfecta, and mild long bone bowing bone deformities.

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 (6)

COL1A1-related osteogenesis imperfecta · OI1 · mild osteogenesis imperfecta · non-deforming osteogenesis imperfecta · osteogenesis imperfecta type 1 · osteogenesis imperfecta type I

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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,497 matched papers (827 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Hearing impairment; Hip dysplasia; Femoral bowing) Source

  4. Animal modelPresent

    3 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

19

Associated phenotypes · MONDO:0008146

  • Hearing impairment
  • Hip dysplasia
  • Femoral bowing
  • Osteopenia
  • Recurrent fractures

Showing 5 of 19 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,497

1,497 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=3967) is 59.

1,497 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).

827 in the last 10 years · low confidence

Phrase hits: 1,497 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,122

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 F9 papers · 2023

    Shriners Hospital for Children, 1529 Cedar Avenue, Montréal, Québec H3G 1A6, Canada; Department of Pediatrics, McGill University, 1529 Cedar Avenue, Montréal, Québec H3G 1A6, Canada; Centre de Réadaptation Marie-Enfant, Research Center, Hôpital Sainte-Justine, 5200 Bélanger Street East, Montréal, Québec H1T 1C9, Canada.

    Papers in Europe PMC
  2. 02
    Liu Y7 papers · 2025

    Jiangxi Maternal and Child Health Hospital, Nanchang, China.

    Papers in Europe PMC
  3. 03
    Glorieux FH6 papers · 2023

    Shriners Hospital for Children, 1529 Cedar Avenue, Montréal, Québec H3G 1A6, Canada; Department of Pediatrics, McGill University, 1529 Cedar Avenue, Montréal, Québec H3G 1A6, Canada.

    Papers in Europe PMC
  4. 04
    Jakubowska-Pietkiewicz E5 papers · 2025

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

    Papers in Europe PMC
  5. 05
    Chen S4 papers · 2025

    The Second Affiliated Hospital of Guangxi Medical University, Nanning, 530000, Guangxi, China.

    Papers in Europe PMC
  6. 06
    Chen Y4 papers · 2026

    Prenatal Diagnosis Center of the Eighth Affiliated Hospital, Sun Yat-sen University, Shenzhen, China.

    Papers in Europe PMC
  7. 07
    Eekhoff EMW4 papers · 2026

    Rare Bone Disease Center Amsterdam, 1081 HV Amsterdam, The Netherlands.

    Papers in Europe PMC
  8. 08
    Liu L4 papers · 2022

    Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan, Beijing, 100730, China.

    Papers in Europe PMC
  9. 09
    Micha D4 papers · 2026

    Department of Human Genetics, Amsterdam Reproduction and Development, Amsterdam Movement Sciences, Amsterdam UMC, Amsterdam, The Netherlands.

    Papers in Europe PMC
  10. 10
    van Dijk FS4 papers · 2024

    North West Thames Regional Genetics Service, London North West University Health Care NHS Trust, Harrow, UK.

    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 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th 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

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 13 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · dropped 0 · fetched 2026-07-30

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 (12)

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 type 1 — check Associations / patient organisations on that page.

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 1" OR "Non-deforming osteogenesis imperfecta" OR "OI type 1" OR "Van der Hoeve syndrome" OR "Adair-Dighton syndrome" OR "Mild osteogenesis imperfecta" OR "COL1A1-related osteogenesis imperfecta" OR "osteogenesis imperfecta type I"

Run this search on Europe PMC

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

"Osteogenesis imperfecta type 1" OR "Non-deforming osteogenesis imperfecta" OR "OI type 1" OR "Van der Hoeve syndrome" OR "Adair-Dighton syndrome" OR "Mild osteogenesis imperfecta" OR "COL1A1-related osteogenesis imperfecta" OR "osteogenesis imperfecta type I"

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: 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; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: OI1

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 (1497) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T09:41:52.419Z