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Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones
Craniosynostosis (CS) is a common malformation occurring in ~4 per 10,000 live births in
which the sutures between skull bones close too early, causing long-term problems with brain
and skull growth. Infants with CS typically require extensive surgical treatment and may
experience many perioperative complications, including hemorrhage and re-synostosis. Even
with successful surgery, children can experience developmental and learning disabilities or
vision problems. Most often, CS appears as isolated nonsyndromic CS (NSC). Of the several
subtypes of CS, unilateral or bilateral fusion of the coronal suture is the second most
common form of CS accounting for 20-30% of all NSC cases. The etiology of coronal NSC (cNSC)
is not well understood, although the published literature suggests that it is a
multifactorial condition. About 5-14% of coronal craniosynostosis patients have a positive
family history, with a specific genetic etiology identified in >25% of cNSC cases, suggesting
a strong genetic component in the pathogenesis of this birth defect. The causes for cNSC and
its phenotypic heterogeneity remain largely unknown. An international team of investigators
will generate large genomic and gene expression datasets on samples from patients with cNSC.
State-of-the-art imaging, genetic, and developmental and systems biology approaches will be
used to quantitatively model novel pathways and networks involved in the development of cNSC.
Novel variant-, gene- and network-level analyses will be performed on the genomic data
obtained from cNSC cases, their relatives, and controls to identify novel variants and
genetic regions associated with cNCS. Quantitative, analytical, and functional validations of
these predictions will provide insights into the etiology and possible therapeutic targets
for CS and potentially other bone-related disorders.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Jeyna.Perez@UTSouthwestern.edu
studyfinder@utsouthwestern.edu, Jeyna.Perez@UTSouthwestern.edu
Alex Kane
120974
All
up to 80 Years old
NCT03025763
STU 022015-001
Other: Craniosynostosis Network Environmental Survey, Other: 2D/3D Photography, Procedure: Buccal Swab Cell Sampling, Procedure: Blood sampling, Procedure: Skin Biopsy, Procedure: Tissues from a Clinically Indicated Procedure, Procedure: Pre-operative CT Scan Image Files.
Craniosynostosis
Craniosynostosis, Bone, Birth Defect, Congenital Anomaly, Malformation, Genetics, Genomics, Skull, Human, Mouse, Imaging, Cell Biology, Induced Pluripotent Stem Cells, System Biology
Children’s Health
Pathway to Prevention Study
RATIONALE
The accrual of data from the laboratory and from epidemiologic and prevention trials has
improved the understanding of the etiology and pathogenesis of type 1 diabetes mellitus
(T1DM). Genetic and immunologic factors play a key role in the development of T1DM, and
characterization of the early metabolic abnormalities in T1DM is steadily increasing.
However, information regarding the natural history of T1DM remains incomplete. The TrialNet
Natural History Study of the Development of T1DM (Pathway to Prevention Study) has been
designed to clarify this picture, and in so doing, will contribute to the development and
implementation of studies aimed at prevention of and early treatment in T1DM.
Purpose:
TrialNet is an international network dedicated to the study, prevention, and early treatment
of type 1 diabetes. TrialNet sites are located throughout the United States, Canada,
Finland, United Kingdom, Italy, Germany, Sweden, Australia, and New Zealand. TrialNet is
dedicated to testing new approaches to the prevention of and early intervention for type 1
diabetes.
The goal of the TrialNet Natural History Study of the Development of Type 1 Diabetes is to
enhance our understanding of the demographic, immunologic, and metabolic characteristics of
individuals at risk for developing type 1 diabetes.
The Natural History Study will screen relatives of people with type 1 diabetes to identify
those at risk for developing the disease. Relatives of people with type 1 diabetes have
about a 5% percent chance of being positive for the antibodies associated with diabetes.
TrialNet will identify adults and children at risk for developing diabetes by testing for
the presence of these antibodies in the blood. A positive antibody test is an early
indication that damage to insulin-secreting cells may have begun. If this test is positive,
additional testing will be offered to determine the likelihood that a person may develop
diabetes. Individuals with antibodies will be offered the opportunity for further testing to
determine their risk of developing diabetes over the next 5 years and to receive close
monitoring for the development of diabetes.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Michelle.Murphy@UTSouthwestern.edu
studyfinder@utsouthwestern.edu, Michelle.Murphy@UTSouthwestern.edu
Perrin White
17917
All
1 Year to 45 Years old
N/A
NCT00097292
STU 042011-074
Diabetes Mellitus, Type 1, Pancreas
"at risk" for developing type 1 diabetes, T1DM, T1D, juvenile diabetes, Type 1 Diabetes TrialNet, TrialNet
UT Southwestern; Children’s Health; Parkland Health & Hospital System
Genetic and Metabolic Disease in Children
This is a prospective, non-randomized, non-blinded observational study. The overarching goal
is to discover new disease-associated genes in children, while establishing a specific focus
on disorders where molecular characterization is most likely to lead to novel therapies. This
study will merge detailed phenotypic characterization of patients presenting to the Pediatric
Genetics and Metabolism Division in the Department of Pediatrics/Children's Medical Center at
Dallas and collaborating clinics with Next-Generation sequencing techniques to identify
disease-producing mutations. The primary objective of the study is to identify novel
pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the
study is to establish normative ranges of a large number of metabolites from healthy newborns
and older children.
Call 214-648-5005
studyfinder@utsouthwestern.edu, Min.Ni@UTSouthwestern.edu
studyfinder@utsouthwestern.edu, Min.Ni@UTSouthwestern.edu
Ralph DeBerardinis
99018
All
Not specified
N/A
NCT02650622
STU 112014-001
Procedure: Skin Biopsy
Genetic Diseases, Metabolic Diseases, Other
Metabolism, Genetics, Metabolomics, Genomics
UT Southwestern; Children’s Health; Parkland Health & Hospital System
Prospective Clinical Assessment Study in Children With Achondroplasia (ACH)
This is a long-term, multi-center, observational study in children 2.5 to 10 years with
achondroplasia (ACH). The objective is to evaluate growth, ACH-related medical complications
and treatments of study participants. No study medication will be administered.
Call 214-648-5005
studyfinder@utsouthwestern.edu, chelsea.pratt@childrens.com
studyfinder@utsouthwestern.edu, chelsea.pratt@childrens.com
Garrett Gotway
12705
All
30 Months to 10 Years old
NCT04035811
STU-2019-1762
Achondroplasia
Skeletal dysplasia, Endochondral ossification, ACH, Shortened proximal limbs, Fibroblast growth factor receptor 3, FGFR3, Endochondral bone formation, Short-limb disproportionate dwarfism, Bone disease, Dwarfism, Bone diseases, Musculoskeletal diseases, Osteochondrodysplasia, Genetic diseases, Inborn
Children’s Health
Brain Metabolism Observed at 7 Tesla
The goal is to develop methodology to monitor flux in the citric acid cycle in brain via 13C
nuclear magnetic resonance (NMR) spectroscopy at 7 Tesla.
Call 214-648-5005
studyfinder@utsouthwestern.edu, adrian.avila@utsouthwestern.edu
studyfinder@utsouthwestern.edu, adrian.avila@utsouthwestern.edu
Juan Pascual
85158
All
16 Years to 65 Years old
NCT05085704
STU-2021-0560
Device: Magnetic resonance imaging
Glucose Transporter Type 1 Deficiency Syndrome, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders, Glucose Transport Defect, Glucose Transporter Protein Type 1 Deficiency Syndrome, Glut1 Deficiency Syndrome 1
UT Southwestern
Study to Evaluate Biological & Clinical Effects of Significantly Corrected CFTR Function in Infants & Young Children (BEGIN)
This is a two-part, multi-center, prospective longitudinal, exploratory study of highly
effective cystic fibrosis transmembrane conductance regulator (CFTR) modulators and their
impact on children with cystic fibrosis (CF).
Call 214-648-5005
studyfinder@utsouthwestern.edu, Mary.Klosterman@UTSouthwestern.edu
studyfinder@utsouthwestern.edu, Mary.Klosterman@UTSouthwestern.edu
Meghana Sathe
68730
All
up to 5 Years old
NCT04509050
STU-2020-0752
Drug: Ivacaftor or elexacaftor/tezacaftor/ivacaftor
Cystic Fibrosis, Other Digestive Organ
Cystic Fibrosis, CF, CFTR Modulator, triple combination therapy, elexacaftor, tezacaftor, ivacaftor
Children’s Health
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