ORPHA:2783
Autosomal dominant osteopetrosis type 1
Clinical definition (Orphanet)
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
87
87 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
87 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
22 in the last 10 years · high confidence · 41.3th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 1 trial are registered for autosomal dominant osteopetrosis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
1
trials for autosomal dominant osteopetrosis, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (LRP5).
GenCC classification: Strong.
Who's working on it?
425
Distinct author names in 87 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Bollerslev J8 papers · 2005
Department of Internal Medicine, Svendborg Hospital, Odense, Denmark.
Papers in Europe PMC - 02Richardson CC7 papers · 2006Papers in Europe PMC
- 03Schaaper RM7 papers · 2022
From the Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709, schaaper@niehs.nih.gov.
Papers in Europe PMC - 04Mosekilde L6 papers · 1994Papers in Europe PMC
- 05Itsko M5 papers · 2017
From the Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, North Carolina 27709.
Papers in Europe PMC - 06Beauchamp BB4 papers · 1988
Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA 02115.
Papers in Europe PMC - 07Van Hul W4 papers · 2020
Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Papers in Europe PMC - 08Sillence D3 papers · 2023
Specialities of Genomic Medicine and Paediatrics and Adolescent Health, Sydney University Clinical School, Children's Hospital, Westmead, NSW, Australia.
Papers in Europe PMC - 09Boudin E2 papers · 2020
Center of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Papers in Europe PMC - 10Cormier-Daire V2 papers · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
1 interventional trial matched autosomal dominant osteopetrosis, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
Observational and natural-history studies
3 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.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26Likely covered — the policy lists Osteopetrosis as a category (Group 1), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 1 — one-time curative treatment
Up to ₹50 lakh per patient
Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).
Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. 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 below but are not added to the query string.
"Autosomal dominant osteopetrosis type 1" OR "LRP5 osteopetrosis (disease)" OR "OPTA1" OR "osteopetrosis (disease) caused by mutation in LRP5" OR "osteopetrosis, autosomal dominant type 1"
MeSH descriptor terms unioned into the query: Osteopetrosis autosomal dominant type 1
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal dominant osteopetrosis type 1" OR "LRP5 osteopetrosis (disease)" OR "OPTA1" OR "osteopetrosis (disease) caused by mutation in LRP5" OR "osteopetrosis, autosomal dominant type 1" OR "Osteopetrosis autosomal dominant type 1" OR "LRP5"
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C536056 OMIM:607634 UMLS:C1843330
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus