预约演示

更新于：2025-05-07

Osteogenesis Imperfecta, Type 3

成骨不全症III型

更新于：2025-05-07

基本信息

别名

OI type 3、OI, TYPE III、OI, type 3 Osteogenesis imperfecta, type 3

+ [21]

简介

A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.

关联

项与成骨不全症III型相关的药物

Setrusumab

靶点

SOST

作用机制

SOST抑制剂

在研机构

Ultragenyx Pharmaceutical, Inc.

原研机构

MorphoSys AG

在研适应症

成骨不全症IV型 [+1]

非在研适应症

低碱性磷酸酶血症 [+4]

最高研发阶段临床3期

首次获批国家/地区-

首次获批日期1800-01-20

项与成骨不全症III型相关的临床试验

NCT05559801

/ Not yet recruiting临床1/2期IIT

A Phase 1/2 Study to Examine the Safety and Preliminary Efficacy of Mesenchymal Stromal Cells on Linear Growth and Bone Health Parameters in Children With Type 3 Osteogenesis Imperfecta (OI)

This is a Phase 1/2 study to determine the safety and efficacy of allogeneic (third party), bone-marrow derived mesenchymal stromal cells (MSCs) for the treatment of Osteogenesis Imperfecta (OI) Type 3. It will evaluate this by looking at whether there are treatment related infusion reactions, and assessing linear growth rates and bone health, both of which are impaired in patients ages 3-10 with Osteogenesis Imperfecta Type 3. This is a single-site non-randomized clinical trial, that will take place at Children's Healthcare of Atlanta (CHOA) at Egleston and Emory Children's Center.

开始日期2025-09-01

申办/合作机构

Emory University

NCT03118570

/ Completed临床2期

A Phase 2b, Multicentre, Multinational, Double-blind, Dose-finding Study, Incorporating an Open Label Substudy, in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With Setrusumab (BPS804)

The purpose of this study is to select a suitable dose of BPS804 by measuring the strength/quality of bone using a special type of CT scanner. Participants will be treated for 12 months and followed up for a further 12 months.

开始日期2017-09-11

申办/合作机构

Ultragenyx Pharmaceutical, Inc.

[+1]

NCT01061099

/ Completed临床1期IIT

A Pilot Study to Assess the Safety and Feasibility of Repeated Infusions of Mesenchymal Stromal Cells (MSC) in Children With Osteogenesis Imperfecta

This is a study to evaluate the safety and effectiveness of repeated Mesenchymal Stromal Cells (MSC) infusions to patients with Type II or III osteogenesis imperfecta (OI).
Participants will receive MSC infusions approximately every 4 months to complete a total of 6 infusions over 20 months. Participants will be followed for 4 months post their last MSC infusion.

开始日期2010-02-01

申办/合作机构

Nationwide Children's Hospital

100 项与成骨不全症III型相关的临床结果

登录后查看更多信息

100 项与成骨不全症III型相关的转化医学

登录后查看更多信息

0 项与成骨不全症III型相关的专利（医药）

登录后查看更多信息

266

项与成骨不全症III型相关的文献（医药）

2025-03-01·American Journal of Medical Genetics Part A

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta

Article

作者: Batkovskyte, Dominyka ; Eisfeldt, Jesper ; Hammarsjö, Anna ; Nordgren, Ann ; Sæther, Kristine Bilgrav ; Åström, Eva ; Lundin, Johanna ; Grigelioniene, Giedre ; Swolin‐Eide, Diana ; Thunström, Sofia ; Lindstrand, Anna

ABSTRACTOsteogenesis Imperfecta (OI) is a heterogeneous skeletal dysplasia characterized by bone fragility, skeletal deformities, and short stature. Most commonly, it is caused by autosomal dominant variants in the type I collagen genes, COL1A1 or COL1A2. Type I collagen is the main protein of the extracellular matrix in the skeleton and changes in its structure or quantity may lead to OI. 85%–90% of OI cases occur due to sequence variants in type I collagen genes, while OI caused by structural abnormalities in type I collagen genes is less common. In most cases, haploinsufficiency of type I collagen is associated with a milder OI phenotype. Large genomic deletions often involve several genes within the same chromosomal region, leading to microdeletion syndromes with OI features. Here, we report eight Swedish patients from five unrelated families with OI due to structural variants in the COL1A1 and COL1A2 genes. One patient with OI type III had a complex rearrangement with a deletion and duplication event in COL1A2, leading to reduced COL1A2 expression. Three other patients from two different families with OI type I had whole gene deletions involving COL1A1. In one family, three affected individuals with OI type I had a small intragenic deletion of exons 11–12 in COL1A2. One patient had a 2.1 Mb de novo deletion encompassing COL1A1 and DLX3 genes and features of OI and tricho‐dento‐osseous syndrome. Overall, this study highlights the importance of investigating gene dosage abnormalities in patients with OI and further delineates clinical and genetic variability of OI caused by structural variants in type I collagen genes.

2025-03-01·Oral Diseases

Oral Health‐Related Quality of Life in Dutch Adults With Osteogenesis Imperfecta

Article

作者: Harsevoort, Arjan ; Kalaykova, Stanimira ; de Kuijper‐Timmermans, Emmanuelle ; Appelman‐Dijkstra, Natasha M. ; de Kuijper, Maurits ; Blokland, Lieke ; Zillikens, M. Carola ; Gooijer, Koert ; Janus, Guus J. M.

ABSTRACTObjectiveTo explore the oral health‐related quality of life and its possible risk factors among adults with Osteogenesis Imperfecta using the Oral Health Impact Profile (OHIP)‐49 questionnaire. Secondary objectives were to investigate the impact of self‐reported Osteogenesis Imperfecta, Dentinogenesis Imperfecta, and age on various dental parameters.Materials and MethodsA cross‐sectional questionnaire was distributed online to 417 Dutch adults with Osteogenesis Imperfecta at three national referral centers. Multivariate linear regression was performed to identify indicators for OHIP‐49 Scores. The effect of Osteogenesis Imperfecta, Dentinogenesis Imperfecta, and age on various dental parameters was investigated using logistic regressions (p < 0.05).ResultsOne hundred and fifty‐five questionnaires (37.2%) were suitable for analysis. Osteogenesis Imperfecta type III was significantly associated with higher OHIP‐49 scores as compared to type I. Symptoms of temporomandibular disorders, missing teeth or dentures also increased the OHIP‐49 scores significantly. Osteogenesis Imperfecta type IV and increasing age were associated with missing teeth. There was a 31.94 times (95% CI: 8.56–119.13) higher odds of tooth fracture with self‐reported Dentinogenesis Imperfecta.ConclusionsAdults with Osteogenesis Imperfecta type III report a lower oral health‐related quality of life compared to Osteogenesis Imperfecta type I adults.

2025-03-01·Bone Reports

Corrigendum to “SERPINF1 gene variants causing late-onset progressive deforming osteogenesis imperfecta – A study of 18 patients from India” [Bone Rep. 2023 May 26;18:101690. doi: 10.1016/j.bonr.2023.101690]