Curative Cell and Gene Therapy for Osteogenesis Imperfecta

Lee, Lucinda R.; O’Donohue, Alexandra K; Ginn, Samantha L.; Munns, Craig F

doi:10.1002/jbmr.4549

Cited by 15 publications

(7 citation statements)

References 138 publications

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“…Each patient's treatment plan is customized to address their specific needs and challenges. 72 Stabilization and Orthopedic Treatment of Fractures and Deformities. In individuals with unstable fractures or delayed healing post-fractures, osteotomy of the long bone and intramedullary rod implantation become essential procedures to correct deformities and prevent recurrent fractures.…”

Section: ■ Current and Future Therapy In Oimentioning

confidence: 99%

“…These therapeutic strategies involve a multidisciplinary approach, encompassing bone-modifying agents, muscle strengthening, exercise rehabilitation, as well as orthopedic stabilization and the treatment of fractures and abnormalities. Each patient’s treatment plan is customized to address their specific needs and challenges …”

Section: Current and Future Therapy In Oimentioning

confidence: 99%

“…Recent studies have established a connection between OI and genes involved in osteoblast formation. , Loss-of-function mutations in the SP7 gene cause OI type XII. The SP7 gene encodes the zinc finger transcription factor osterix protein, primarily generated by osteoblasts .…”

Section: Oi Pathogenesismentioning

confidence: 99%

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Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches

Sun,

Li,

Wang

et al. 2024

ACS Pharmacol. Transl. Sci.

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Osteogenesis imperfecta (OI) is an uncommon genetic disorder characterized by shortness of stature, hearing loss, poor bone mass, recurrent fractures, and skeletal abnormalities. Pathogenic variations have been found in over 20 distinct genes that are involved in the pathophysiology of OI, contributing to the disorder's clinical and genetic variability. Although medications, surgical procedures, and other interventions can partially alleviate certain symptoms, there is still no known cure for OI. In this Review, we provide a comprehensive overview of genetic pathogenesis, existing treatment modalities, and new developments in biotechnologies such as gene editing, stem cell reprogramming, functional differentiation, and transplantation for potential future OI therapy.

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Section: ■ Current and Future Therapy In Oimentioning

confidence: 99%

Section: Current and Future Therapy In Oimentioning

confidence: 99%

See 1 more Smart Citation

Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches

Sun,

Li,

Wang

et al. 2024

ACS Pharmacol. Transl. Sci.

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“…Eine derzeit laufende klinische Studie untersucht den prä-und postpartalen Einsatz solcher Stammzellen [36,37]. Ebenso bietet zukünftig vielleicht der Einsatz weiterer Zellbasierter Therapien die Möglichkeit die Symptomatik von OI-Betroffenen zu verbessern, auch wenn eine kurative Therapie derzeit noch nicht in Reichweite ist [38,39].…”

Section: Ausblickunclassified

Gelenkerhaltende Therapie bei Osteogenesis imperfecta

et al. 2022

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Zusammenfassung Hintergrund Die Osteogenesis imperfecta (OI) ist mit einer Häufigkeit von ca. 1:20.000 eine Skeletterkrankung, mit der Pädiater und Orthopäden eher selten konfrontiert werden. Methode Selektive Literaturrecherche in der Datenbank PubMed unter Berücksichtigung von Fallstudien und Reviews bis August 2022. Ergebnisse Zwecks optimaler Therapieentscheidung für oder gegen eine operative Therapie bei OI ist eine interdisziplinäre Zusammenarbeit von Pädiatern und Orthopäden unabdingbar. Während bei Kleinkindern und der operativen Versorgung des Unterarmes häufig noch Titanelastische Nägel (TENs) ihren Einsatz finden, werden sobald der Durchmesser des Knochens es erlaubt im Wachstum primär Teleskopnägel bei der gelenkerhalten Versorgung der OI genutzt. Der hierbei weltweit mittlerweile am häufigste präferierte Teleskopnagel ist der Fassier-Duval (FD) Nagel. Bei ausgewachsenen Jugendlichen und Erwachsenen sind aufgrund der kleinen Markraum Durchmesser sogenannte „Custom made Implantate“ notwendig. Bei fehlender postoperativer primärer Belastungsstabilität ist eine Ruhigstellung indiziert, die zu einem weiteren Abbau des ohnehin schon atrophen Muskels bei dem OI-Patienten führt. Schlussfolgerung Trotz Optimierung bzw. Entwicklung spezieller Implantate stellt die gelenkerhalte Versorgung der OI weiterhin eine Herausforderung für Patient und Arzt dar.

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“…These “classical” OI types are associated with autosomal mutations in the genes encoding type I collagen ( COL1A1, COL1A2 ) and still account for 85% to 90% of OI cases [ 5 ]. These mutations lead to structural or qualitative defects in the collagen protein, with reductions in collagen quantity (haploinsufficiency) typically producing milder forms of OI compared with structural mutants [ 6 ]. Based on the clinical phenotypes and later on the confirmation of molecular markers, types V and VI of the disease were distinguished.…”

Section: Introductionmentioning

confidence: 99%

Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review

Tyurin

Merkuryeva

Zaripova³

et al. 2022

Biomedicines

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Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontaneous fractures and skeletal deformities. However, the clinical manifestations of different types of OI are characterized by marked polymorphism with variable severity of skeletal and extra-skeletal features. Previous studies have shown that a mutation (c.-14C>T) in the IFITM5 gene is responsible for autosomal dominant OI type V. However, the mutation has a variable expression pattern and marked clinical heterogeneity. In this study, a clinical and genetic analysis of 12 cases with molecularly confirmed OI type V from 12 unrelated families was performed. Significant clinical heterogeneity of the disease with the same molecular defect was detected. In six subjects (50%), there were no classic signs of OI type V (formation of a hyperplastic bone callus, calcification of the interosseous membrane and dislocation of the radial head). In all cases, the mutation occurred de novo.

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Curative Cell and Gene Therapy for Osteogenesis Imperfecta

Cited by 15 publications

References 138 publications

Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches

Emerging Landscape of Osteogenesis Imperfecta Pathogenesis and Therapeutic Approaches

Gelenkerhaltende Therapie bei Osteogenesis imperfecta

Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review

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