Registry of Osteogenesis Imperfecta

Osteogenesis Imperfecta Clinical Trial

— ROI  

Official title:

Registry of Osteogenesis Imperfecta That Collects Clinical, Functional, Genetic, Genealogical, Imaging, Surgical, Quality of Life Data. Data Are Linked to Patients Biological Sample

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04115774
• Other study ID #: 21632/2013
• Status: Recruiting
• Start date: June 28, 2013
• Est. completion date: February 29, 2032

Study information

• Verified date: May 2024
• Source: Istituto Ortopedico Rizzoli
• Contact: Marina Mordenti, PhD
• Phone: +39 05 6366062
• Email: marina.mordenti[@]ior.it
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial Summary

ROI is a retrospective and prospective registry, finalized to care and research. 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 individuated in order to corroborate and integrate data from different resources and aspects of the diseases and to correlate genetic background and phenotypic outcomes, in order to better investigate diseases pathophysiology.

Description:

The common way to collect patient information is frequently chaotic and inconvenient (sometimes even unsafe), particularly when dealing with rare diseases. The need to simplify the diagnostic process and to overcome the difficulties of data storage and analysis, suggested in 2013 to implement the Registry of Osteogenesis Imperfecta (ROI).

The ROI relies on an IT Platform named Genotype-phenotype Data Integration platform -GeDI.This solution, realized by a collaboration among Medical Genetic Department and a local software-house (NSI - Nier IT Solution), is a General Data Protection Regulation (GDPR)-compliant, multi-client, web-accessible system and it has been designed according to current medical informatics standards (Orphanet code, ICD-10, Human Genome Variants Society, Findability Accessibility Interoperability Reusability Principles). GeDI is continuously implemented to improve management of persons with Osteogenesis Imperfecta and to help researchers in analysing collected information. ROI is articulated in main sections:

1. Personal data: it comprises general information, birth details and residence data

2. Patient data: including the patients internal code, the hospital code and other details on patients

3. Diagnosis: the diagnosis, the status (affected, suspect, etc.), age at diagnosis, comorbidities, allergies, etc.

4. Genogram: a tool to design family transmission of the disease, flanked by info on diseases status of all included relatives

5. Clinical events: records 23 signs and symptoms of Osteogenesis Imperfecta (representing the main Osteogenesis Imperfecta features) and 12 additional items to describe the disease

6. Genetic Analysis and Alteration: including technique, sample information, duration of analysis, etc. In addition, this section comprises detailed information on detected pathological variants (gene, international reference, DNA change, Protein change, genomic position, etc.)

7. Visits: it includes the typology of the visit (genetic, orthopaedic, rehabilitation, paediatric, etc.), the date of the visit, treatment, prescription, imaging, etc.

8. Surgeries: this section contains information on the surgeries type, the age of the patients, the site/localization of the procedures, etc.

9. Documents: this repository is allowed to store all type of documents (radiological reports, imaging, consents, clinical reports, etc.)

10. Consents: this section comprises a complete overview of all collected consents, including the date of collection.

11. Samples: it comprises the type of samples (DNA, tissue, whole peripheral blood, etc.)

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 5000
• Est. completion date: February 29, 2032
• Est. primary completion date: July 2018
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• Any condition unrelated to Osteogenesis Imperfecta

Related Conditions & MeSH terms

• Osteogenesis Imperfecta

Intervention

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

Locations

Country	Name	City	State
Italy	Irccs Istituto Ortopedico Rizzoli	Bologna	Emilia Romagna

Sponsors (1)

Lead Sponsor	Collaborator
Luca Sangiorgi

Country where clinical trial is conducted

Italy, 

References & 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. — View Citation

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

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

* Note: There are 14 references in all — Click here to view all references

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Disease evolution	This outcome aims to investigate the evolution of Osteogenesis Imperfecta during time. This will be evaluated within the families and among the families.; Main clinical features, such as height, number of fractures, bone evaluations, will be collected both retrospectively and prospectively. An evaluation of these parameters will be performed at each visit to keep trace on the progression of the clinical manifestations.	25 years
Primary	Natural History and Epidemiology	To maintain an established registry in order to assess epidemiology and natural history (such as incidence, prevalence, etc.). 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.) and family history (inheritance in maternal or paternal line, etc.).; Clinical, orthopaedic and functional features are updated at each follow up. Clinical reports, medical charts and imaging are the primary source of data.	25 years
Secondary	Genotype-Phenotype Correlation	The secondary outcome comprises the correlation between genotype and phenotype. This includes, but is not limited to clinical features and genetic background. This will be pursued using the information collected during visits and follow-ups and the genetic information resulting from molecular investigations.	25 years