type 6 Osteogenesis imperfecta

Also Known As:

Osteogenesis imperfecta, type 6; OI, Type VI; OI, type 6 Osteogenesis imperfecta, type 6; OI, type VI Osteogenesis imperfecta, type VI; OI6 Osteogenesis imperfecta 6; Osteogenesis Imperfecta, Type VI

Networked: 33 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Osteogenesis Imperfecta: 2193
        type 6 Osteogenesis imperfecta: 33
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteogenesis Imperfecta: 2193
    - type 6 Osteogenesis imperfecta: 33
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Collagen Diseases: 754
    - Osteogenesis Imperfecta: 2193
      - type 6 Osteogenesis imperfecta: 33

Related Diseases

1.	Osteoporosis
2.	Hyperostosis corticalis deformans juvenilis
3.	Osteogenesis Imperfecta (Lobstein Disease)
4.	type 6 Osteogenesis imperfecta
5.	Hypophosphatemic Rickets

Experts

1.	Rauch, Frank: 12 articles (12/2020 - 03/2007)
2.	Glorieux, Francis H: 9 articles (01/2016 - 03/2007)
3.	Moffatt, Pierre: 5 articles (01/2016 - 06/2012)
4.	Chung, Chuhan: 4 articles (01/2016 - 11/2013)
5.	Roughley, Peter: 4 articles (07/2015 - 06/2012)
6.	Li, Feng: 3 articles (09/2019 - 06/2015)
7.	Niyibizi, Christopher: 3 articles (09/2019 - 06/2015)
8.	Tombran-Tink, Joyce: 3 articles (09/2019 - 06/2015)
9.	Bertin, Terry: 3 articles (07/2018 - 12/2011)
10.	Ward, Leanne: 3 articles (01/2018 - 01/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 6 Osteogenesis imperfecta:

1.	Denosumab FDA Link 09/26/2014 - "Two years' experience with denosumab for children with osteogenesis imperfecta type VI." 09/01/2012 - "First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI." 01/01/2023 - "Mitigating the Denosumab-Induced Rebound Phenomenon with Alternating Short- and Long-Acting Anti-resorptive Therapy in a Young Boy with Severe OI Type VI." 01/01/2016 - "An iliac bone sample obtained after 5 denosumab injections (and 3 months after the last injection) showed no change in the increased osteoid parameters that are typical of OI type VI, but the number of osteoclasts in trabecular bone was markedly increased. " 01/01/2016 - "This suggests that the effect of denosumab on osteoclast suppression is of shorter duration in children with OI type VI than what has previously been reported on adults with osteoporosis."
2.	Diphosphonates (Bisphosphonates)IBA 10/01/2017 - "Patients with OI type VI who received intravenous bisphosphonate treatment during growth had an increase in lumbar spine areal BMD, a higher final height z-score, and presented some reshaping of vertebral bodies. " 10/01/2017 - "This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height z-score, and some reshaping of vertebral bodies. " 09/26/2014 - "Patients with OI type VI are known to have a poor response to such a bisphosphonate treatment. " 01/01/2018 - "Children with osteogenesis imperfecta (OI) type VI often have high fracture rates despite the current standard treatment with bisphosphonates. " 01/01/2018 - "It appears that the duration of action of denosumab is short and variable in children with OI type VI. These observations call into question the concept that denosumab can be used as a stand-alone alternative to bisphosphonates to treat children with OI."
3.	pigment epithelium-derived factorIBA 09/01/2019 - "Mutations in Serpinf1 gene which encodes pigment epithelium-derived factor (PEDF) lead to osteogenesis imperfecta type VI whose hallmark is defective matrix mineralization. " 10/01/2018 - "Mutations in Serpinf1 gene which encodes pigment epithelium derived factor (PEDF) lead to osteogenesis imperfecta type VI whose hallmark is defective mineralization. " 01/01/2016 - "Pigment epithelium-derived factor (PEDF) normalizes matrix defects in iPSCs derived from Osteogenesis imperfecta Type VI." 01/01/2016 - "Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade." 01/01/2016 - "Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade."
4.	Proteins (Proteins, Gene)FDA Link 03/01/2016 - "We tested whether restoration of circulating PEDF in the blood could correct the phenotype of OI type VI in the context of protein replacement. " 01/01/2016 - "PEDF null iPSCs have marked abnormalities in secreted matrix proteins, capturing a key feature of human OI Type VI, which were normalized by exogenous PEDF. " 12/01/2015 - "The discovery that null mutations in the PEDF gene results in Osteogenesis Imperfecta Type VI, a rare autosomal recessive bone disease characterized by multiple fractures, highlights a critical developmental function for this protein. " 01/01/2016 - "Null mutations in for pigment epithelium-derived factor (PEDF), the protein product of the SERPINF1 gene, are the cause of osteogenesis imperfecta (OI) type VI. The PEDF-knockout (KO) mouse captures crucial elements of the human disease, including diminished bone mineralization and propensity to fracture. " 11/01/2013 - "Pigment epithelium-derived factor (PEDF), the protein product of the SERPINF1 gene, has been linked to distinct diseases involving adipose or bone tissue, the metabolic syndrome, and osteogenesis imperfecta (OI) type VI. Since mesenchymal stem cell (MSC) differentiation into adipocytes vs. osteoblasts can be regulated by specific factors, PEDF-directed dependency of murine and human MSCs was assessed. "
5.	SerpinsIBA 12/01/2014 - "PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). " 05/01/2021 - "The single gene defect in osteogenesis imperfecta type VI is Serpin Family F Member 1 (SERPINF1), a neurotrophic factor for the neuronal differentiation in retinoblastoma cells. " 07/01/2018 - "OI type VI is caused by mutations in the serpin peptidase inhibitor, clade F, member 1 (SERPINF1), the gene coding for pigment epithelium-derived factor (PEDF). " 12/01/2011 - "We describe loss of function mutations in serpin peptidase inhibitor, clade F, member 1 (SERPINF1) in two affected members of this family and in an additional unrelated patient with OI type VI. SERPINF1 encodes pigment epithelium-derived factor. " 02/01/2022 - "Osteogenesis imperfecta (OI) type VI causative gene SERPINF1, encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. "
6.	MineralsIBA 11/01/2013 - "Bones from KO mice demonstrated a reduction in mineral content recapitulating the OI type VI phenotype. " 03/01/2007 - "Our results suggest that 3 years of intravenous pamidronate therapy led to improvements in bone mineral mass, gross motor function, muscle force and fracture incidence in patients with OI type VI. However, the gains in mobility scores and reductions in fracture incidence during pamidronate treatment are less than in other OI types." 01/01/2018 - "Here we describe fluctuations in bone and mineral metabolism during denosumab treatment in four children with OI type VI who started denosumab (basic protocol: 1 mg per kg body mass every 3 months) between 1.9 and 9.0 years of age, after having received intravenous bisphosphonates previously. "
7.	Protease Inhibitors (Protease Inhibitor)IBA 07/01/2018 - "OI type VI is caused by mutations in the serpin peptidase inhibitor, clade F, member 1 (SERPINF1), the gene coding for pigment epithelium-derived factor (PEDF). " 12/01/2011 - "We describe loss of function mutations in serpin peptidase inhibitor, clade F, member 1 (SERPINF1) in two affected members of this family and in an additional unrelated patient with OI type VI. SERPINF1 encodes pigment epithelium-derived factor. "
8.	Glycoproteins (Glycoprotein)IBA 12/01/2014 - "PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). " 03/01/2016 - "Others and we have previously identified SERPINF1 mutations in patients with OI type VI. SERPINF1 encodes pigment epithelium derived factor (PEDF), a secreted collagen-binding glycoprotein that is absent in the sera of patients with OI type VI. Serpinf1 null mice show increased osteoid and decreased bone mass, and thus recapitulate the OI type VI phenotype. "
9.	CollagenIBA 04/01/2015 - "These data suggest that the lack of PEDF impairs a proper osteoblast-osteocyte transition and consequently affects the early steps of mineralization, downstream collagen assembly making OI type VI different from "classical" OI with mutations in collagen-type I encoding genes, despite the typical hypermineralization of the bone matrix. " 03/01/2016 - "Others and we have previously identified SERPINF1 mutations in patients with OI type VI. SERPINF1 encodes pigment epithelium derived factor (PEDF), a secreted collagen-binding glycoprotein that is absent in the sera of patients with OI type VI. Serpinf1 null mice show increased osteoid and decreased bone mass, and thus recapitulate the OI type VI phenotype. " 04/01/2015 - "Recessive OI type VI is caused by mutation in SERPINF1 leading to a loss-of-function of pigment epithelium-derived factor (PEDF) a collagen-binding protein with potent antiangiogenic activity. "
10.	Serine Proteases (Serine Protease)IBA 02/01/2022 - "Osteogenesis imperfecta (OI) type VI causative gene SERPINF1, encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. "

Therapies and Procedures

1.	Therapeutics 10/01/2017 - "This study includes a retrospective chart review of 13 individuals with OI type VI. In the absence of therapy, lumbar spine areal bone mineral density (BMD) did not increase during childhood and longitudinal growth seemed to stall after the age of 6 to 8 years. " 12/16/2020 - "Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?" 01/01/2023 - "Mitigating the Denosumab-Induced Rebound Phenomenon with Alternating Short- and Long-Acting Anti-resorptive Therapy in a Young Boy with Severe OI Type VI." 03/01/2007 - "Our results suggest that 3 years of intravenous pamidronate therapy led to improvements in bone mineral mass, gross motor function, muscle force and fracture incidence in patients with OI type VI. However, the gains in mobility scores and reductions in fracture incidence during pamidronate treatment are less than in other OI types."
2.	Injections 01/01/2016 - "An iliac bone sample obtained after 5 denosumab injections (and 3 months after the last injection) showed no change in the increased osteoid parameters that are typical of OI type VI, but the number of osteoclasts in trabecular bone was markedly increased. "