Registry of Osteogenesis Imperfecta

NCT04115774 | Recruiting

• 1 other identifier: 21632/2013
• Study Type: observational
• Target: 5,000
• Locations: 1 country
• Sites: 1

Brief Summary

ROI is a retrospective and prospective registry, finalized for care and research purposes. It is articulated in main sections - strongly related and mutually dependent on each other - corresponding to different data domains: personal information, clinical data, genetic data, genealogical data, surgeries, etc. This approach has been developed to corroborate and integrate data from different sources evaluating several aspects of diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology. Due to legal requirements, institutional directives and organizational issues, we are unable to include individuals residing outside Italy in the registry at this time. We are currently engaged in the preparation of a recruitment process for individuals residing outside Italy.

Conditions

Osteogenesis Imperfecta

Keywords

Disease Registry; Natural History Study; Disease Evolution; Genotype-Phenotype Correlation

Outcome Measures

Primary Outcomes (1)

• Natural History and Epidemiology

  To maintain an established registry in order to assess epidemiology and natural history. Collection of physical examinations (severity of the disease), orthopaedics and functionals data (number of fractures, fracture sites, deafness, etc.), genetics background (target gene, type of mutation, etc.), family history (inheritance in maternal or paternal line, etc.) and treatment information (pharmacological, devices, supplements, and other treatments). Clinical, orthopedic, surgical, treatment and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary source of data.

  25 years

Secondary Outcomes (1)

• Genotype-Phenotype Correlation

  25 years

Other Outcomes (1)

• Disease evolution

  25 years

Study Arms (1)

Osteogenesis Imperfecta patients

The group comprises all patients affected by Osteogenesis Imperfecta, including prenatal and fetal diagnosis of Osteogenesis Imperfecta

Drug: bisphosphonates

Interventions

bisphosphonates DRUG

Since this is an observational study, the investigators collect general information on bisphosphonates treatment/impact

Osteogenesis Imperfecta patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients affected by Osteogenesis Imperfecta. The Registry will include also data on foetuses (prenatal and abortion).

You may qualify if:

• All Osteogenesis Imperfecta patients, including prenatal and fetal diagnosis of Osteogenesis Imperfecta

You may not qualify if:

• Any condition unrelated to Osteogenesis Imperfecta

Sponsors & Collaborators

• Luca Sangiorgi: lead

Study Sites (1)

Irccs Istituto Ortopedico Rizzoli

Bologna, Emilia-Romagna, 40136, Italy

RECRUITING

Related Publications (14)

• Ablin DS, Sane SM. Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. Pediatr Radiol. 1997 Feb;27(2):111-3. doi: 10.1007/s002470050079.

  PMID: 9028840 BACKGROUND

• Davie MW, Haddaway MJ. Bone mineral content and density in healthy subjects and in osteogenesis imperfecta. Arch Dis Child. 1994 Apr;70(4):331-4. doi: 10.1136/adc.70.4.331.

  PMID: 8185368 BACKGROUND

• Chapman S, Hall CM. Non-accidental injury or brittle bones. Pediatr Radiol. 1997 Feb;27(2):106-10. doi: 10.1007/s002470050078.

  PMID: 9028839 BACKGROUND

• Lindert U, Cabral WA, Ausavarat S, Tongkobpetch S, Ludin K, Barnes AM, Yeetong P, Weis M, Krabichler B, Srichomthong C, Makareeva EN, Janecke AR, Leikin S, Rothlisberger B, Rohrbach M, Kennerknecht I, Eyre DR, Suphapeetiporn K, Giunta C, Marini JC, Shotelersuk V. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nat Commun. 2016 Jul 6;7:11920. doi: 10.1038/ncomms11920.

  PMID: 27380894 BACKGROUND

• Martin E, Shapiro JR. Osteogenesis imperfecta:epidemiology and pathophysiology. Curr Osteoporos Rep. 2007 Sep;5(3):91-7. doi: 10.1007/s11914-007-0023-z.

  PMID: 17925189 BACKGROUND

• Miller ME, Hangartner TN. Temporary brittle bone disease: association with decreased fetal movement and osteopenia. Calcif Tissue Int. 1999 Feb;64(2):137-43. doi: 10.1007/s002239900592.

  PMID: 9914321 BACKGROUND

• Moore MS, Minch CM, Kruse RW, Harcke HT, Jacobson L, Taylor A. The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop (Belle Mead NJ). 1998 Dec;27(12):797-801.

  PMID: 9880097 BACKGROUND

• Roughley PJ, Rauch F, Glorieux FH. Osteogenesis imperfecta--clinical and molecular diversity. Eur Cell Mater. 2003 Jun 30;5:41-7; discussion 47. doi: 10.22203/ecm.v005a04.

  PMID: 14562271 BACKGROUND

• Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979 Apr;16(2):101-16. doi: 10.1136/jmg.16.2.101.

  PMID: 458828 BACKGROUND

• Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L. Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. Eur J Hum Genet. 2019 Jul;27(7):1090-1100. doi: 10.1038/s41431-019-0373-x. Epub 2019 Mar 18.

  PMID: 30886339 BACKGROUND

• Zionts LE, Nash JP, Rude R, Ross T, Stott NS. Bone mineral density in children with mild osteogenesis imperfecta. J Bone Joint Surg Br. 1995 Jan;77(1):143-7.

  PMID: 7822373 BACKGROUND

• Hill CL, Baird WO, Walters SJ. Quality of life in children and adolescents with Osteogenesis Imperfecta: a qualitative interview based study. Health Qual Life Outcomes. 2014 Apr 16;12:54. doi: 10.1186/1477-7525-12-54.

  PMID: 24742068 BACKGROUND

• Hald JD, Folkestad L, Harslof T, Brixen K, Langdahl B. Health-Related Quality of Life in Adults with Osteogenesis Imperfecta. Calcif Tissue Int. 2017 Nov;101(5):473-478. doi: 10.1007/s00223-017-0301-4. Epub 2017 Jul 4.

  PMID: 28676897 BACKGROUND

• Vanz AP, van de Sande Lee J, Pinheiro B, Zambrano M, Brizola E, da Rocha NS, Schwartz IVD, de Souza Pires MM, Felix TM. Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL. BMC Pediatr. 2018 Mar 2;18(1):95. doi: 10.1186/s12887-018-1077-z.

  PMID: 29499676 BACKGROUND

Related Links

• Institutional webpage of Registries For Rare Hereditary Diseases

Biospecimen

Retention: SAMPLES WITH DNA

Whole peripheral blood, DNA, lymphocytes

MeSH Terms

Conditions

Osteogenesis Imperfecta

Interventions

Diphosphonates

Condition Hierarchy (Ancestors)

Osteochondrodysplasias; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Collagen Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Organophosphonates; Organophosphorus Compounds; Organic Chemicals

Study Officials

• Luca Sangiorgi, PhD

  Istituto Ortopedico Rizzoli

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marina Mordenti, PhD

CONTACT

+39 05 6366062; registri.malattierare@ior.it

Marcella Lanza, PhD

CONTACT

+39 05 6366169; registri.malattierare@ior.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 25 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Head of Departement of Rare Skeletal Disorders

Study Record Dates

• First Submitted: October 2, 2019
• First Posted: October 4, 2019
• Study Start: June 28, 2013
• Primary Completion: July 1, 2018
• Study Completion (Estimated): February 29, 2032
• Last Updated: November 20, 2025

Record last verified: 2025-11

Locations

IT (1)