Current OI Studies and Publications

Participation in OI research helps advance the scientific understanding of OI so that more and better treatments can be made available to the OI community. Take a look at OI studies and recent OI publications below.


CURRENT OI STUDIES


Supporting research is an important part of the OI Foundation’s mission. Often, the success of clinical studies of a rare disorder like osteogenesis imperfecta (OI) depends on getting enough people to participate in the study so the results are meaningful. People who are interested in participating in a clinical trial are encouraged to review the fact sheet What You Need to Know about Clinical Trials. Additional information about research studies can be found on www.clinicaltrials.gov.

The following studies are currently enrolling participants:

Disclaimer: The OI Foundation is not involved in the design or management of this research, and as such, is neither endorsing nor supporting these studies. The mission of the OIF is to keep the OI community informed of all relevant studies. This information is made available as a service to the OI community.

Participate in the OI Wellbeing Study

Baylor College of Medicine is conducting this OI Wellbeing Study as a part of the Brittle Bone Disorders Consortium which aims to improve the lives of people with Osteogenesis Imperfecta.
This study addresses an under-researched aspect of health critical to the wellbeing of the OI community, namely psychological health. Participants will meet with a researcher over a secure teleconference platform for about 1 hour and complete a series of questionnaires about mental health, physical health, quality of life, social wellbeing, and experience with health care professionals. Participants are compensated $50.

This information may help develop psychological interventions personalized for people with OI. Please share information about this study with any adult with OI that you believe may be interested in participating.

If you have any questions about the study or are considering participating, please email OIWellbeing@bcm.edu or call (713) 798-0117.

7707: Use of clear aligners for the treatment of dental malocclusion in individuals with Osteogenesis Imperfecta Types III and IV (Brittle Bone Disorders Consortium)
The purpose of this study is to determine if it is safe to use Invisalign clear aligners in correcting the misalignment of teeth in people with OI. Clear aligners are transparent plastic trays that are designed to fit over your teeth. With each new tray, teeth are moved a little at a time until they reach the desired position. We plan to have approximately 57 people take part in this study.

For more information, please contact Dianne Nguyen (BBDC Project Manager) at (713)798-6694 or diannen@bcm.edu. For more information about current studies through the Brittle Bones Disorders Consortium (BBDC), visit the BBDC webpage.

7710: Pregnancy in Osteogenesis Imperfecta – Part 2: Complications in pregnancy and postpartum

UCLA is conducting a Pregnancy in OI Study to classify and interpret the rates of cesarean delivery(c-section), hemorrhage, and fractures in women with Osteogenesis Imperfecta (OI) during pregnancy. This study is addressing the currently limited data on pregnancy in women with OI. Participants will be asked to connect over the phone with a researcher and complete an online survey about their pregnancy experiences.

If you have any questions or are interested in participating, please call at (310) 206-7176 or email at uclaoistudies@mednet.ucla.edu. For more information about current studies through the Brittle Bones Disorders Consortium (BBDC), visit the BBDC webpage.

Poise 1 (Sanofi)
Sanofi is conducting an early phase study in adults with OI Types I and IV with an anti-TGFb antibody called SAR439459. This study is called Poise 1 and is a Phase 1 study*. This study involves a single administration of SAR439459 given intravenously (IV) into the arm, with a 6-month follow period. At this early stage in development, Sanofi is recruiting a limited range of study participants but we do anticipate expanding enrollment criteria in future studies. Participants in the Poise 1 study are not likely to experience benefits from SAR439459, and 25% will receive a placebo, but all participants will help with the scientific understanding of OI and SAR439459 as we prepare for future long-term studies. The study also includes digital, non-invasive strategies to better understand how OI patients move and are active throughout the day.

All participants will be reimbursed for travel and accommodations involved in visiting study sites during the study duration, including airfare for those who are not within driving distance of a study site.  Please see the study brochure for more information about where the study sites are located and for references to the information given above.

If you have any questions about this study, you may email Contact-US@sanofi.com or call 800-633-1610, ext option 6 (Toll free for US & Canada).

Ultragenyx Studies

Two clinical studies investigating setrusumab for the treatment of osteogenesis imperfecta (OI) in pediatric and young adults are currently enrolling participants. The goal of these studies, ORBIT and COSMIC, is to determine whether setrusumab can safely and effectively restore bone production. If it works, this treatment could impact individuals living with OI in an important way—potentially making bones stronger, reducing fractures, and growing new bone. Below are snapshots of both studies.

ORBIT Study

  • Phase 3 study evaluating the safety and efficacy of setrusumab vs. placebo
  • Currently enrolling patients aged 5 to 26 years old with OI types I, III, and IV
  • Must be willing to not receive bisphosphonate therapy during the study
    ***On October 14, 2023, Ultragenyx announced Interim data from the Phase 2 portion of the Orbit study, which showed that treatment with setrusumab reduced incidence of fractures in patients with OI by 67% following at least 6 months of treatment and demonstrated improvements in lumbar spine bone mineral density (BMD). CLICK HERE TO READ THE FULL PRESS RELEASE

COSMIC Study

  • Phase 3 study evaluating the safety and efficacy of setrusumab vs. IV bisphosphonates
  • Currently enrolling patients aged 2 but less than 5 years old with OI types I, III, and IV

In both clinical studies, every patient will receive expert medical care from a study team that has experience with OI. The study team will include doctors and nurses who work with people living with OI and understand their needs and concerns. The top priority will always be the health of the patient. All medical care that is part of the study will be provided at no cost.

Dr. Alison Skrinar (Ultragenyx) joined OIF Board Member Dr. Michelle Fynan to discuss setrusumab and the clinical trial process. Click here to watch this video. To help you decide whether ORBIT or COSMIC are right for you or your child, please contact OIStudyInfo@Ultragenyx.com or visit www.ultraclinicaltrials.com for more information.

Interested in learning more about participating in Clinical Trials? Take a look at the OI Foundation’s What You Need To Know About Clinical Trials Factsheet.


PUBLICATIONS


Below is a collection of published OI research. We will continue to update this list as more information becomes available.

OI Research – Adults with OI  This spreadsheet, created by Riley Johnson B.S. (Research Assistant, Oregon Health and Science University), was created as a resource for people interested in the medical science supporting osteogenesis imperfecta (OI) in adults. The object of this project was to compile a comprehensive list of articles published in the scientific literature about adult OI in humans. Please note that there may be overlooked articles, and new articles may not be included yet.

Osteogenesis Imperfecta Is More Than a Pediatric Disorder-There Is a Need for Adult Care Evidence to Guide Clinicians. Folkestad L, Hald JD, Tosi L, Raggio C, Semler O, Langdahl B, Ralston SH. J Clin Endocrinol Metab. 2024 Jan 18;109(2):e866-e867. doi: 10.1210/clinem/dgad423. PMID: 37453088.


AAV-based gene editing of type 1 collagen mutation to treat osteogenesis imperfecta. Yang YS, Sato T, Chaugule S, Ma H, Xie J, Gao G, Shim JH. Mol Ther Nucleic Acids. 2023 Dec 26;35(1):102111. doi: 10.1016/j.omtn.2023.102111. PMID: 38261950; PMCID: PMC10797194.


Atypical cell death and insufficient matrix organization in long-bone growth plates from Tric-b-knockout mice. Ichimura, A., Miyazaki, Y., Nagatomo, H. et al. Cell Death Dis 14, 848 (2023). https://doi.org/10.1038/s41419-023-06285-y


Col1A-2 Mutation in Osteogenesis Imperfecta Mice Contributes to Long Bone Fragility by Modifying Cell-Matrix Organization. André G, Chretien A, Demoulin A, Beersaerts M, Docquier PL, Behets C. Int J Mol Sci. 2023 Nov 30;24(23):17010. doi: 10.3390/ijms242317010. PMID: 38069332; PMCID: PMC10707465.


Assessing type I collagen expression and quality in cellular models of osteogenesis imperfecta. Udupa P, Shrikondawar AN, Ranjan A, Ghosh DK. Clin Genet. 2023 Nov 28. doi: 10.1111/cge.14463. Epub ahead of print. PMID: 38014644.


Effects of novel raloxifene analogs alone or in combination with mechanical loading in the Col1a2G610c/+ murine model of osteogenesis imperfecta. Kohler R, Creecy A, Williams DR, Allen MR, Wallace JM. Bone. 2023 Nov 17;179:116970. doi: 10.1016/j.bone.2023.116970. Epub ahead of print. PMID: 37977416.


Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling. Marom R, Zhang B, Washington ME, Song IW, Burrage LC, Rossi VC, Berrier AS, Lindsey A, Lesinski J, Nonet ML, Chen J, Baldridge D, Silverman GA, Sutton VR, Rosenfeld JA, Tran AA, Hicks MJ, Murdock DR, Dai H, Weis M, Jhangiani SN, Muzny DM, Gibbs RA, Caswell R, Pottinger C, Cilliers D, Stals K; Undiagnosed Diseases Network; Eyre D, Krakow D, Schedl T, Pak SC, Lee BH. PLoS Genet. 2023 Nov 7;19(11):e1011005. doi: 10.1371/journal.pgen.1011005. PMID: 37934770; PMCID: PMC10656020.


The recombinant BMP-2 loaded silk fibroin microspheres improved the bone phenotype of mild osteogenesis imperfecta mice. Fu T, Liu Y, Wang Z, Jing Y, Zhao Y, Shao C, Lv Z, Li G. PeerJ. 2023 Oct 30;11:e16191. doi: 10.7717/peerj.16191. PMID: 37927786; PMCID: PMC10621593.


Automated measurement of lamellar thickness in human bone using polarized light microscopy. Ryan N, Shefelbine SJ, Shapiro F. MethodsX. 2023 Oct 13;11:102428. doi: 10.1016/j.mex.2023.102428. PMID: 37954966; PMCID: PMC10632941.


Tensile Mechanical Properties of Dry Cortical Bone Extracellular Matrix: A Comparison Among Two Osteogenesis Imperfecta and One Healthy Control Iliac Crest Biopsies. Indermaur, M., Casari, D., Kochetkova, T., Willie, B. M., Michler, J., Schwiedrzik, J., & Zysset, P. (2023). JBMR Plus, e10826. https://doi.org/10.1002/jbm4.10826


Altered cartilage gene expression in Aga2 OI mouse negatively impacts linear growth through Sox9 and FGF signaling. Zieba J, Nevarez L, Wachtell D, Martin JH, Kot A, Wong S, Cohn DH, Krakow D. JCI Insight. 2023 Oct 5:e171984. doi: 10.1172/jci.insight.171984. Epub ahead of print. PMID: 37796615.


Analysis of miRNAs in Osteogenesis imperfecta Caused by Mutations in COL1A1 and COL1A2: Insights into Molecular Mechanisms and Potential Therapeutic Targets. Botor M, Auguściak-Duma A, Lesiak M, Sieroń Ł, Dziedzic-Kowalska A, Witecka J, Asman M, Madetko-Talowska A, Bik-Multanowski M, Galicka A, Sieroń AL, Gawron K. Pharmaceuticals (Basel). 2023 Oct 4;16(10):1414. doi: 10.3390/ph16101414. PMID: 37895885; PMCID: PMC10609877.


Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage. Danyukova T, Alimy AR, Velho RV, Yorgan TA, Di Lorenzo G, von Kroge S, Tidow H, Wiegert JS, Hermans-Borgmeyer I, Schinke T, Rolvien T, Pohl S. Bone. 2023 Oct 4;177:116927. doi: 10.1016/j.bone.2023.116927. Epub ahead of print. PMID: 37797712.


A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta. Rork WC, Hertz AG, Wiese AD, Kostick KM, Nguyen D, Schneider SC, Shepherd WS, Cho H; Members of the BBDC; Murali CN, Lee B, Sutton VR, Storch EA. Am J Med Genet A. 2023 Sep;191(9):2267-2275. doi: 10.1002/ajmg.a.63323. Epub 2023 Jun 15. PMID: 37317786


Dental tissue changes in juvenile and adult mice with osteogenesis imperfecta. Moore JC, Husain TS, Huston LA, Steele AT, Organ JM, Gonzales LA, Menegaz RA, Handler EK. Anat Rec (Hoboken). 2023 Aug 28. doi: 10.1002/ar.25306. Epub ahead of print. PMID: 37638385.


Neurocranial growth in the OIM mouse model of osteogenesis imperfecta. Husain TS, Moore JC, Huston LA, Miller CA, Steele AT, Gonzales LA, Handler EK, Organ JM, Menegaz RA. Anat Rec (Hoboken). 2023 Aug 28. doi: 10.1002/ar.25307. Epub ahead of print. PMID: 37638403.


Temporal Progression of Aortic Valve Pathogenesis in a Mouse Model of Osteogenesis Imperfecta. Thatcher K, Mattern CR, Chaparro D, Goveas V, McDermott MR, Fulton J, Hutcheson JD, Hoffmann BR, Lincoln J. J Cardiovasc Dev Dis. 2023 Aug 20;10(8):355. doi: 10.3390/jcdd10080355. PMID: 37623368; PMCID: PMC10455328.


Adult human cardiomyocyte mechanics in osteogenesis imperfecta. Lee BW, Caporizzo MA, Chen CY, Bedi KC Jr, Peyster EG, Prosser BL, Margulies KB, Vite A. Am J Physiol Heart Circ Physiol. 2023 Aug 11. doi: 10.1152/ajpheart.00391.2023. Epub ahead of print. PMID: 37566108.


How does alendronate affect orthodontic tooth movement in osteogenesis imperfecta: an in vivo study on a mice model. Mehta S, Wang K, Chen PJ, Zhichao F, Ahmida A, Kalajzic Z, Yadav S. Eur J Orthod. 2023 Mar 31;45(2):217-223. doi: 10.1093/ejo/cjad001. Erratum in: Eur J Orthod. 2023 Aug 08;: PMID: 36772933


Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II. Storoni S, Celli L, Breur M, Micha D, Verdonk SJE, Maugeri A, van den Aardweg JG, Riminucci M, Eekhoff EMW, Bugiani M. Physiol Rep. 2023 Jul;11(13):e15737. doi: 10.14814/phy2.15737. PMID: 37401248; PMCID: PMC10318393. 


Gene-repaired iPS cells as novel approach for patient with osteogenesis imperfecta. Fus-Kujawa A, Mendrek B, Bajdak-Rusinek K, Diak N, Strzelec K, Gutmajster E, Janelt K, Kowalczuk A, Trybus A, Rozwadowska P, Wojakowski W, Gawron K and Sieroń AL (2023). Front. Bioeng. Biotechnol. 11:1205122. doi: 10.3389/fbioe.2023.1205122 


Absence of TRIC-B from type XIV Osteogenesis Imperfecta osteoblasts alters cell adhesion and mitochondrial function – A multi-omics study.
Jovanovic M, Mitra A, Besio R, Contento BM, Wong KW, Derkyi A, To M, Forlino A, Dale RK, Marini JC. Matrix Biol. 2023 Jun 20:S0945-053X(23)00075-6. doi: 10.1016/j.matbio.2023.06.004. Epub ahead of print. PMID: 37348683.


CaMKII inhibition due to TRIC-B loss-of-function dysregulates SMAD signaling in osteogenesis imperfecta. Besio R, Contento BM, Garibaldi N, Filibian M, Sonntag S, Shmerling D, Tonelli F, Biggiogera M, Brini M, Salmaso A, Jovanovic M, Marini JC, Rossi A, Forlino A. Matrix Biol. 2023 Jun;120:43-59. doi: 10.1016/j.matbio.2023.05.002. Epub 2023 May 11. PMID: 37178987.


Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure. Daponte V, Tonelli F, Masiero C, Syx D, Exbrayat-Héritier C, Biggiogera M, Willaert A, Rossi A, Coucke PJ, Ruggiero F, Forlino A. Matrix Biol. 2023 Jun 17:S0945-053X(23)00073-2. doi: 10.1016/j.matbio.2023.06.003. Epub ahead of print. PMID: 37336269.


Correlation of lipocalin 2 and glycolipid metabolism and body composition in a large cohort of children with osteogenesis imperfecta. Zheng WB, Hu J, Sun L, Liu JY, Zhang Q, Wang O, Jiang Y, Xia WB, Xing XP, Li M. J Endocrinol Invest. 2023 Jun 16. doi: 10.1007/s40618-023-02121-4. Epub ahead of print. PMID: 37326909.


The International Standard Set of Outcome Measures for the Assessment of Hearing in People with Osteogenesis Imperfecta
Goderie, Thadé ; Hendricks, Sebastian ; Cocchi, Chiara; Maroger, I. Diane; Mekking, Dagmar; Mosnier, Isabelle; Musacchio, Angela; Vernick, David; Smits, Cas. Otology & Neurotology ():10.1097/MAO.0000000000003921, June 15, 2023. DOI: 10.1097/MAO.0000000000003921


TAPT1-at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta. Etich J, Semler O, Stevenson NL, Stephan A, Besio R, Garibaldi N, Reintjes N, Dafinger C, Liebau MC, Baumann U, Mörgelin M, Forlino A, Stephens DJ, Netzer C, Zaucke F, Rehberg M. EMBO Mol Med. 2023 Jun 9:e17528. doi:10.15252/emmm.202317528. Epub ahead of print. PMID: 37292039.


RNA Sequencing of Urine-Derived Cells for the Characterisation and Diagnosis of Osteogenesis Imperfecta. Ludwig K, Wu Z, Bardai G, Mason P, Ward LM, Moffatt P, Rauch F. J Bone Miner Res. 2023 Jun 9. doi: 10.1002/jbmr.4865. Epub ahead of print. PMID: 37293821.


Beneficial Effects of Zoledronic Acid on Tendons of the Osteogenesis Imperfecta Mouse (Oim).Chretien A, Mabilleau G, Lebacq J, Docquier P-L, Behets C. Pharmaceuticals. 2023; 16(6):832. https://doi.org/10.3390/ph16060832


Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta. Lim PJ, Marcionelli G, Srikanthan P, Ndarugendamwo T, Pinner J, Rohrbach M, Giunta C. Front Endocrinol (Lausanne). 2023 May 25;14:1195704. doi: 10.3389/fendo.2023.1195704. PMID: 37305034; PMCID: PMC10248412.


Multiscale Effects of Collagen Damage in Cortical Bone and Dentin. Wu, Q., Touraivane, S., Reiss, T., Vallet, M., Roubier, N., Vennat E., Acevedo C. https://doi.org/10.1007/s11837-023-05852-0


Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta. Gaume, M., El Yahiaouni, S., De Tienda, M., Baujat V., Cormier-Daire,V., Dumaine, V. Pannier, S., Finidori G., Pejin Z. International Orthopaedics (SICOT) (2023). https://doi.org/10.1007/s00264-023-05818-6.


Whole-Body Metabolism and the Musculoskeletal Impacts of Targeting Activin A and Myostatin in Severe Osteogenesis Imperfecta. Omosule, C.L., Joseph, D., Weiler, B., Gremminger, V.L., Silvey, S., Lafaver, B.N., Jeong, Y., Kleiner, S. and Phillips, C.L. (2023). JBMR Plus. https://doi.org/10.1002/jbm4.10753


Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII. Udupa P, Shrikondawar AN, Nayak SS, Shah H, Ranjan A, Girisha KM, Bhavani GS, Ghosh DK. Biochim Biophys Acta Mol Basis Dis. 2023 Aug;1869(6):166741. doi: 10.1016/j.bbadis.2023.166741. Epub 2023 May 3. PMID: 37146916.


Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities. Gochuico BR, Hossain M, Talvacchio SK, et al. Journal of Medical Genetics Published Online First: 16 May 2023. doi: 10.1136/jmg-2022-109009 


The Fate of the Bent Rod in Children With Osteogenesis Imperfecta
Fralinger, D. J., Kraft, D. B., Rogers, K. J., Thacker, M. M., Kruse, R. W., & Franzone, J. M. (2023). Journal of pediatric orthopedics, 10.1097/BPO.0000000000002409. Advance online publication. https://doi.org/10.1097/BPO.0000000000002409


A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta. Nijhuis W, Franken A, Ayers K, Damas C, Folkestad L, Forlino A, Fraschini P, Hill C, Janus G, Kruse R, Lande Wekre L, Michiels L, Montpetit K, Panzeri L, Porquet-Bordes V, Rauch F, Sakkers R, Salles JP, Semler O, Sun J, To M, Tosi L, Yao Y, Yeung EHK, Zhytnik L, Zillikens MC, Verhoef M. Orphanet J Rare Dis. 2021 Mar 20;16(1):140. doi: 10.1186/s13023-021-01682-y. PMID: 33743784; PMCID: PMC7980586.


Standardized growth charts for children with osteogenesis imperfecta. Robinson, ME., Rauch, D., Glorieux, F.H. et al. Pediatr Res (2023). https://doi.org/10.1038/s41390-023-02550-0


The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review. Rapoport M, Bober MB, Raggio C, Wekre LL, Rauch F, Westerheim I, Hart T, Welzenis Tv, Mistry A, Clancy J, Booth L, Prince S and Semler O. Orphanet J Rare Dis 18, 34 (2023). 2023 Feb 22. doi: 10.1186/s13023-023-02627-3


Radiomorphometric indices and fractal dimension of the mandible in individuals with osteogenesis imperfecta: a matched cross-sectional study. Prado HV, Debossan SAT, Loayza KS, Abreu LG, Brasileiro CB, Borges-Oliveira AC. Oral Surg Oral Med Oral Pathol Oral Radiol. 2023 Jul;136(1):102-111. doi: 10.1016/j.oooo.2023.02.002. Epub 2023 Feb 12. PMID: 36966060.


Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.Winnie Liu, Brendan Lee, Sandesh C S Nagamani, Lindsey Nicol, Frank Rauch, Eric T Rush, V Reid Sutton, Eric Orwoll, The Journal of Clinical Endocrinology & Metabolism, 2023;, dgad035, https://doi.org/10.1210/clinem/dgad035


Recommendations for Lung Function Guidance in Osteogenesis Imperfecta: Based on an Internationally Performed Comprehensive International Consortium for Health Outcomes Measurement Procedure. Chaney, H., Mekking, D., De Bakker, D., Beeri, E., Eekhoff, E. M. W., Franken, A., Kamp, O., Micha, D., Barreiros, C., Tomlow, B., van den Aardweg, J. G., LoMauro, A., & Folkestad, L. (2023). Chest, 163(5), 1201–1213. https://doi.org/10.1016/j.chest.2022.12.047


Morphological variability in the inner ear of mice with osteogenesis imperfecta. Huston LA, Husain TS, Moore JC, Organ JM, Menegaz RA, Handler EK, Gonzales LA. Anat Rec (Hoboken). 2023 Jul 29. doi: 10.1002/ar.25298. Epub ahead of print. PMID: 37515586.

A multicenter study to evaluate pain characteristics in osteogenesis imperfecta. Rodriguez Celin M, Kruger KM, Caudill A, Murali CN, Nagamani SCS, Members Of The Brittle Bone Disorders Consortium Bbdc, Smith PA, Harris GF. Am J Med Genet A. 2022 Oct 22. doi: 10.1002/ajmg.a.63009. Epub ahead of print. PMID: 36271817.

Targeting TGF-β for treatment of osteogenesis imperfecta. Song IW, Nagamani SC, Nguyen D, Grafe I, Sutton VR, Gannon FH, Munivez E, Jiang MM, Tran A, Wallace M, Esposito P, Musaad S, Strudthoff E, McGuire S, Thornton M, Shenava V, Rosenfeld S, Huang S, Shypailo R, Orwoll E, Lee B. J Clin Invest. 2022 Apr 1;132(7):e152571. doi: 10.1172/JCI152571.

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay Marom R, Burrage LC, Venditti R, Clément A, Blanco-Sánchez B, Jain M, Scott DA, Rosenfeld JA, Sutton VR, Shinawi M, Mirzaa G, DeVile C, Roberts R, Calder AD, Allgrove J, Grafe I, Lanza DG, Li X, Joeng KS, Lee YC, Song IW, Sliepka JM, Batkovskyte D, Washington M, Dawson BC, Jin Z, Jiang MM, Chen S, Chen Y, Tran AA, Emrick LT, Murdock DR, Hanchard NA, Zapata GE, Mehta NR, Weis MA, Scott AA, Tremp BA, Phillips JB, Wegner J, Taylor-Miller T, Gibbs RA, Muzny DM, Jhangiani SN, Hicks J, Stottmann RW, Dickinson ME, Seavitt JR, Heaney JD, Eyre DR; Undiagnosed Diseases Network, Westerfield M, De Matteis MA, Lee B. Am J Hum Genet. 2021 Sep 2;108(9):1710-1724. doi: 10.1016/j.ajhg.2021.08.002. Epub 2021 Aug 26.

Localized chondro-ossification underlies joint dysfunction and motor deficits in the Fkbp10 mouse model of osteogenesis imperfecta Lim J, Lietman C, Grol MW, Castellon A, Dawson B. Adeyeye M, Rai J, Weis M, Keene DR, Schweitzer R, Park D, Eyre DR, Krakow D, Lee BH. Proceedings of the National Academy of Sciences, 2021 Jun 14; 118 (25) e2100690118. doi: 10.1073/pnas.2100690118.

Missing and unerupted teeth in osteogenesis imperfecta. Taqi D, Moussa H, Schwinghamer T, Vieira AR, Dagdeviren D, Retrouvey JM, Rauch F, Tamimi F; Members of the BBDC. Bone. 2021 Sep;150:116011. doi: 10.1016/j.bone.2021.116011. Epub 2021 May 18.

Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta. Nicol LE, Coghlan RF, Cuthbertson D, Nagamani SCS, Lee B, Olney RC, Horton W; Members of the Brittle Bone Disease Consortium, Orwoll E. Bone. 2021 Aug;149:115990. doi: 10.1016/j.bone.2021.115990. Epub 2021 Apr 28.

Pregnancy in women with osteogenesis imperfecta: pregnancy characteristics, maternal, and neonatal outcomes. Rao R, Cuthbertson D, Nagamani SCS, Sutton VR, Lee BH, Krischer J, Krakow D. Am J Obstet Gynecol MFM. 2021 Jul;3(4):100362. doi: 10.1016/j.ajogmf.2021.100362. Epub 2021 Mar 26.

Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study. Taqi D, Moussa H, Schwinghamer T, Ducret M, Dagdeviren D, Retrouvey JM, Rauch F, Tamimi F; Members of the BBDC. Bone. 2021 Jun;147:115917. doi: 10.1016/j.bone.2021.115917. Epub 2021 Mar 16.

Health-related quality of life in adults with osteogenesis imperfecta. Murali CN, Slater B, Musaad S, Cuthbertson D, Nguyen D, Turner A, Azamian M, Tosi L, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SCS. Clin Genet. 2021 Jun;99(6):772-779. doi: 10.1111/cge.13939. Epub 2021 Feb 22.

A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta. Rodriguez Celin M, Kruger KM, Caudill A, Nagamani SCS; Brittle Bone Disorders Consortium (BBDC); Linked Clinical Research Centers (LCRC), Harris GF, Smith PA. JB JS Open Access. 2020 Sep 11;5(3):e20.00031. doi: 10.2106/JBJS.OA.20.00031. eCollection 2020 Jul-Sep.

Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles. Rauch D, Robinson ME, Seiltgens C, Sutton VR, Lee B, Glorieux F, Rauch F. Bone. 2020 Nov;140:115547. doi: 10.1016/j.bone.2020.115547. Epub 2020 Jul 27.

Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study. Najirad M, Madathil SA, Rauch F, Sutton VR, Lee B, Retrouvey JM; Members of the Brittle Bone Diseases Consortium, Esfandiari S. J Am Dent Assoc. 2020 Jul;151(7):480-490.e2. doi: 10.1016/j.adaj.2020.03.040.

Osteogenesis imperfecta: advancements in genetics and treatment. Rossi V, Lee B, Marom R. Curr Opin Pediatr. 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813.

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH; Members of the BBD Consortium, Nagamani SCS, Raggio C. Am J Med Genet A. 2020 Apr;182(4):697-704. doi: 10.1002/ajmg.a.61464. Epub 2019 Dec 26.

Identification of Functionally Distinct Mx1+αSMA+ Periosteal Skeletal Stem Cells. Ortinau LC, Wang H, Lei K, Deveza L, Jeong Y, Hara Y, Grafe I, Rosenfeld SB, Lee D, Lee B, Scadden DT, Park D. Cell Stem Cell. 2019 Dec 5;25(6):784-796.e5. doi: 10.1016/j.stem.2019.11.003.

Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SCS. Genet Med. 2020 Mar;22(3):581-589. doi: 10.1038/s41436-019-0688-6. Epub 2019 Nov 27.

Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. Swezey T, Reeve BB, Hart TS, Floor MK, Dollar CM, Gillies AP, Tosi LL. Osteoporos Int. 2019 Feb;30(2):507-511. doi: 10.1007/s00198-018-4690-7. Epub 2018 Sep 6. PMID:30191258

Mobility in Osteogenesis Imperfecta: A Multicenter North American Study. Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF. Genet Med. 2019 Mar 28. doi: 10.1038/s41436-019-0491-4. PMID: 30918359

Caries Prevalence and Experience in Individuals with Osteogenesis Imperfecta. Ma MS, Najirad M, Taqi D, Retrouvey JM, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Sutton VR, Rauch F, Esfandiari S. Spec Care Dentist. 2019 Mar;39(2):214-219. Epub 2019 Feb 13. https://doi.org/10.1101/418806. PMID: 30758072

Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement. Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium, Hart TS, Cuthbertson DD, Sutton VR, Krischer JP. Orphanet Journal of Rare Diseases. 2019 Jan 29;14:23. https://doi.org/10.1186/s13023-019- 1004-x. PMID: 30696467

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC, Raggio CL. JBMR Plus. 2019 Jan 7;3(5):e10118. doi: 10.1002/jbm4.10118. eCollection 2019 May.

 

 

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V. Retrouvey JM, Taqi D, Tamimi F, Dagdeviren D, Glorieux FH, Lee B, Hazboun R, Krakow D, Sutton VR; Members of the BBD Consortium. Eur J Med Genet. 2019 Dec;62(12):103606. doi: 10.1016/j.ejmg.2018.12.011. Epub 2018 Dec 26. 

Cone‐Beam Computed Tomography of Osteogenesis Imperfecta Types III and IV: Three‐Dimensional Evaluation of Craniofacial Features and Upper Airways. Reznikov N, Dagdeviren D, Tamimi F, Glorieux F, Rauch F, Retrouvey JM. JBMR Plus, Epub November 16, 2018; doi: 10.1002/jbm4.10124

Oral Health-Related Quality of Life in Children and Adolescents with Osteogenesis Imperfecta: cross- sectional study. Najirad M, Ma MS, Rauch F, Sutton VR, Lee B, Retrouvey JM; Members of the BBD, Esfandiari S. Orphanet J Rare Dis. 2018 Oct 25;13(1):187. doi: https://doi.org/10.1101/424812. PMID: 30359278

Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. Bains JS, Carter EM, Citron KP, Boskey AL, Shapiro JR, Steiner RD, Smith PA, Bober MA, Hart T, Cuthbertson D, Krischer J, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sliepka JM, Sutton VR, Lee B, “Members of the BBD Consortium”, Nagamani SC, Raggio CL. JBMR Plus, Epub October 23, 2018; doi: 10.1002/jbm4.10118

Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5. Dagdeviren D, Tamimi F, Lee B, Sutton R, Rauch F, Retrouvey JM. Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5. Dagdeviren D, Tamimi F, Lee B, Sutton V, Rauch F, Retrouvey JM. Am J Med Genet A. 2018 Oct 5. doi: 10.1002/ajmg.a.40383. PMID: 30289614

Heterozygous WNT1 variant causing a variable bone phenotype. Alhamdi S, Lee YC, Chowdhury S, Byers PH, Gottschalk M, Taft RJ, Joeng KS, Lee BH, Bird LM. Am J Med Genet A. 2018 Nov;176(11):2419-2424. doi: 10.1002/ajmg.a.40347. Epub 2018 Sep 24.

A Multicenter Study to Evaluate Pulmonary Function in Osteogenesis Imperfecta. Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B; Members of the Brittle Bone Disorders Consortium, Rush ET, Nagamani SCS. Clin Genet. 2018 Dec;94(6):502-511. doi: 10.1111/cge.13440. Epub 2018 Sep 24. PMID: 30152014

Osteogenesis imperfecta: potential therapeutic approaches. Rousseau M, Retrouvey JM; Members of the Brittle Bone Disease Consortium. PeerJ. 2018 Aug 17;6:e5464. doi: 10.7717/peerj.5464. eCollection 2018. PMID: 30128210

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Bellur S, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee B, Sutton VR; , Members of the Brittle Bone Disorders Consortium*,, Nagamani SCS. Genet Med. 2018 Jul 4. doi: 10.1038/s41436-018-0045-1. PMID: 29970925

Orthodontic chart documentation. Abdelkarim A, Jerrold L. Am J Orthod Dentofacial Orthop. 2017 Jul;152(1):126-130. doi: 10.1016/j.ajodo.2017.03.018.

Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone. Lietman CD, Lim J, Grafe I, Chen Y, Ding H, Bi X, Ambrose CG, Fratzl-Zelman N, Roschger P, Klaushofer K, Wagermaier W, Schmidt I, Fratzl P, Rai J, Weis M, Eyre D, Keene DR, Krakow D, Lee BH. J Bone Miner Res. 2017 Jun;32(6):1354-1367. doi: 10.1002/jbmr.3108. Epub 2017 Mar 20.

Genetic causes and mechanisms of Osteogenesis Imperfecta. Lim J, Grafe I, Alexander S, Lee B. Bone. 2017 Sep;102:40-49. doi: 10.1016/j.bone.2017.02.004. Epub 2017 Feb 15.

Correlations Between Bone Mechanical Properties and Bone Composition Parameters in Mouse Models of Dominant and Recessive Osteogenesis Imperfecta and the Response to Anti-TGF-β Treatment. Bi X, Grafe I, Ding H, Flores R, Munivez E, Jiang MM, Dawson B, Lee B, Ambrose CG. J Bone Miner Res. 2017 Feb;32(2):347-359. doi: 10.1002/jbmr.2997. Epub 2016 Oct 20.

Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta. Grafe I, Alexander S, Yang T, Lietman C, Homan EP, Munivez E, Chen Y, Jiang MM, Bertin T, Dawson B, Asuncion F, Ke HZ, Ominsky MS, Lee B. J Bone Miner Res. 2016 May;31(5):1030-40. doi: 10.1002/jbmr.2776. Epub 2016 Feb 12.

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta. Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins M, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B; Members of the BBD Consortium, Nagamani SC. Genet Med. 2016 Jun;18(6):570-6. doi: 10.1038/gim.2015.131. Epub 2015 Oct 1. PMID: 26426884

A transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutation. Lietman CD, Marom R, Munivez E, Bertin TK, Jiang MM, Chen Y, Dawson B, Weis MA, Eyre D, Lee B. J Bone Miner Res. 2015 Mar;30(3):489-98. doi: 10.1002/jbmr.2363.