Clinical trials: Brain Calcification
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Cerebral Palsy, Bone Density, Low
Relation Between Bone Mineral Density, Gross Motor Function and Quality of Life In Children With Cerebral Palsy
studying the relationship between Bone Mineral Density, Gross Motor Function and, Quality of Life with CP can provide valuable insights into the musculoskeletal consequences of motor impairments and guide interventions to improve…
- Conditions
- Cerebral Palsy, Bone Density, Low, Gross Motor Development Delay
- Trial name
- NCT06180395
- Testing
- Group 1, Group 2
- Where
- Egypt
- Volunteers
- 75 people
- Sponsor
- Cairo University
Hypopituitarism, Hypogonadism
Detection and Treatment of Endocrine Abnormalities in Childhood Cancer Survivors and Hematopoietic Stem Cell Transplant Recipients
This study will determine the prevalence of endocrine-related side effects in children who have been treated for cancer and establish a database and registry organized according to cancer diagnosis, treatments and endocrine side…
- Conditions
- Hypopituitarism, Hypogonadism, Thyroid Dysfunction, Bone Diseases, Metabolic
- Trial name
- NCT00504218
- Where
- United States
- Volunteers
- 62 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Cerebral Palsy, Osteoporosis
Influence of Verticalization on Bone Mineral Density and Biological Parameters of Bone Remodeling in Children With Severe Cerebral Palsy
Low bone mineral density affects 77% of children with severe cerebral palsy (GMFCS IV \& V) with an increased fracture risk of 4%. One strategy supposed to improve bone mineral density is verticalisation with static devices.
- Conditions
- Cerebral Palsy, Osteoporosis, Bone Mineral Density, Bone Remodeling Disorder
- Trial name
- CPABONE (NCT04761666)
- Where
- France
- Sponsor
- Centre Hospitalier Universitaire, Amiens
Interstitial Lung and Liver Disease, Infantile Liver Failure Syndrome 1
Impact of Mutations in Aminoacyl tRNA Synthetases on Protein Translation and Cellular Stress
Mutations in the genes encoding cytosolic aminoacyl-tRNA synthetases are responsible for early-onset multisystemic diseases including to varying degrees interstitial lung disease, liver damage, neurological and digestive…
- Conditions
- Interstitial Lung and Liver Disease, Infantile Liver Failure Syndrome 1, Neurologic, Endocrine and Pancreatic Disease, Multisystem, Infantile-Onset 2, Rajab Interstitial Lung Disease With Brain Calcifications 2
- Trial name
- FIBROMARS (NCT05514470)
- Testing
- Skin biopsy
- Where
- France
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cerebral Palsy
Functional Progressive Resistive Training and Cerebral Palsy
Functional Progressive Resistive Exercise (FPRE) is a strengthening approach that combines functional movement activities with progressively increased resistance.
- Trial name
- NCT07675343
- Testing
- functional progressive resistive exercise and designed physical therapy program, designed physical therapy program
- Where
- Egypt
- Volunteers
- 60 people
- Sponsor
- Cairo University
Hypopituitarism
Arimidex Multicenter Trial in Growth Hormone (GH) Deficient Boys
The purpose of this study is to see if Arimidex, an aromatase inhibitor, can delay epiphyseal fusion and increase predicted adult height in boys who are growth hormone deficient, in puberty, and who are taking growth hormone.
- Trial name
- NCT00133354
- Testing
- Arimidex (Anastrozole), Growth Hormone
- Where
- United States
- Volunteers
- 53 people
- Sponsor
- Nemours Children's Clinic
Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis
National Registry of Rare Kidney Diseases
The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research.
- Conditions
- Adenine Phosphoribosyltransferase Deficiency, AH Amyloidosis, AHL Amyloidosis, AL Amyloidosis
- Trial name
- RaDaR (NCT06065852)
- Where
- United Kingdom
- Volunteers
- 35,000 people
- Sponsor
- UK Kidney Association
Brain Calcification
A Registered Cohort Study on Brain Calcification
Brain calcification is a common neuroimaging feature in patients with metabolic, neurological, or developmental disorders, infectious diseases, traumatic or toxic history, as well as in otherwise normal older people.
- Trial name
- NCT04010201
- Where
- China
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Wan-Jin Chen
Epilepsy
Bone Mineral Density in Pediatric Epilepsy
What are the effects of the currently used AEDs on bone mineralization in children and adolescents between the ages of 8 to 18? This is a pilot observational study using DEXA scans to measure bone mineral density in 100 patients…
- Trial name
- NCT00204815
- Where
- United States
- Volunteers
- 98 people
- Sponsor
- University of Wisconsin, Madison
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Osteogenesis Imperfecta, Osteoporosis
REMS25: Study on the Use of REMS Technology in Diseases Commonly Associated With Reduced Bone Mineral Density (BMD)
This study evaluates bone mineral density (BMD) in pediatric patients aged 5-18 years with conditions negatively affecting bone health, using REMS (Radiofrequency Echographic Multi Spectrometry), a non-invasive and radiation-free…
- Conditions
- Osteogenesis Imperfecta, Osteoporosis, Hypogonadisms, Neoplasia
- Trial name
- NCT07412782
- Testing
- REMS
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Meyer Children's Hospital IRCCS
Dwarfism, Pituitary, Turner Syndrome
Bone Mineral Density (BMD) in Adolescents With Growth Hormone Deficiency (GHD)
This study is a multicenter, open-label, postmarketing surveillance study. The substudy will collect information on BMD in adolescents and young adults with GHD or Turner syndrome who are completing GH treatment for statural…
- Trial name
- NCT00097526
- Volunteers
- 125 people
- Sponsor
- Genentech, Inc.
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia