Clinical trials: Parathyroid; Anomaly
Pseudohypoparathyroidism
Study of the Regulation of Parathyroid Hormone Secretion in Pseudohypoparathyroidism
OBJECTIVES: Determine the relationship between serum calcium concentrations and parathyroid hormone secretion in patients with pseudohypoparathyroidism.
- Trial name
- NCT00004661
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Chromosome 22q11.2 Deletion Syndrome
Genetics and Psychopathology in the 22q11 Deletion Syndrome
The purposes of this study are to: 1. study the nature and longitudinal course of psychiatric symptoms in children with the 22q11.2 deletion syndrome and 2. identify genes that contribute to the occurrence of these symptoms.
- Trial name
- NCT00161109
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 175 people, healthy volunteers welcome
- Sponsor
- UMC Utrecht
Multiple Endocrine Neoplasia, Pancreatic Neuroendocrine Tumors
Variables That Are Correlated to Developing Multiple Endocrine Neoplasia (MEN) and Pancreatic Neuroendocrine Tumors (PNET)
The study aims to identify predictors of disease in patients with hyperparathyroidism (HPTH) who undergo surgery.
- Conditions
- Multiple Endocrine Neoplasia, Pancreatic Neuroendocrine Tumors, Hyperparathyroidism
- Trial name
- NCT03053999
- Testing
- Genome Sequencing, Data Review
- Where
- United States
- Volunteers
- 53 people
- Sponsor
- M.D. Anderson Cancer Center
DiGeorge Syndrome, Congenital Heart Defects
Infection in DiGeorge Following CHD Surgery
We propose a retrospective review of patients with DiGeorge syndrome having undergone cardiac surgery to evaluate the incidence of blood stream and/or surgical site infection.
- Trial name
- NCT00278005
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Children's Healthcare of Atlanta
Pregnant Individuals, Aneuploidy
The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
The goal of the ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) study is to compare the concordance of results of a novel non-invasive circulating fetal cell (CFC) assay to the results of…
- Conditions
- Pregnant Individuals, Aneuploidy, Down Syndrome (Trisomy 21), 22q11.2 Deletion Syndrome
- Trial name
- ADVANCE (NCT07643896)
- Where
- 9 sites in United States
- Volunteers
- 1,000 people
- Sponsor
- BillionToOne Inc.
22q11.2 Deletion Syndrome
Understanding of Psychotic Disorders in Children With 22q11.2DS
The study PremiCeS22 will investigate the prodromal signals at the onset of psychotic disorders of children with 22q11.2 deletion syndrome
- Trial name
- PremiCeS22 (NCT04639388)
- Testing
- neuropsychological testing, questionnaires and experimental tasks
- Where
- France
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier
Williams Syndrome, Angelman Syndrome
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2). II.
- Conditions
- Williams Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Shprintzen Syndrome
- Trial name
- NCT00004351
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Hypoparathyroidism, Tetralogy of Fallot
Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects
OBJECTIVES: I. Identify latent hypoparathyroidism in normocalcemic adult survivors with repaired conotruncal cardiac defects, by evaluating parathyroid gland secretory function after induced hypocalcemia. II.
- Conditions
- Hypoparathyroidism, Tetralogy of Fallot, Pulmonary Valve Stenosis, Conotruncal Cardiac Defects
- Trial name
- NCT00004361
- Testing
- calcium gluconate, sodium citrate
- Volunteers
- 150 people
- Sponsor
- National Center for Research Resources (NCRR)
Obesity and Obesity-related Medical Conditions, Diabetes
Routine Validation and Reproducibility Testing of Laboratory Assays and Research Techniques Used for Endocrine, Cardiometabolic, and Musculoskeletal Disorder Research (VALD)
The purpose of this research study is to validate (check the accuracy of) laboratory assays, intravenous catheter insertion, and equipment or devices and their reproducibility, which is necessary to perform high quality research…
- Conditions
- Obesity and Obesity-related Medical Conditions, Diabetes, Atherosclerotic Disease, Heart Failure
- Trial name
- VALD (NCT07083557)
- Testing
- Endothelial cell collection
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Bettina Mittendorfer
Osteogenesis Imperfecta
Treatment of Osteogenesis Imperfecta With Parathyroid Hormone and Zoledronic Acid
Osteogenesis imperfecta (OI) is an inherited skeletal disorder characterised by increased risk of fragility fractures. Bisphosphonates are frequently prescribed for adult patients with OI with the aim of preventing fractures but…
- Trial name
- TOPaZ (NCT03735537)
- Testing
- Teriparatide Pen Injector, Zoledronic Acid
- Where
- 23 sites in Ireland, United Kingdom
- Volunteers
- 350 people
- Sponsor
- University of Edinburgh
22Q11 Deletion Syndrome, tACS
Using Transcranial Alternating Current Stimulation to Improve Executive Function in 22q11.2 Deletion Syndrome
The purpose of this project is to explore the effects of transcranial alternating current stimulation (tACS) in children, adolescents and young adults with a 22q11.2 microdeletion.
- Trial name
- NCT05664412
- Testing
- at-home tACS using Starstim-Home tES
- Where
- Switzerland
- Volunteers
- 40 people
- Sponsor
- Stephan Eliez
Ckd-Mbd
Relationship Between Cardiopulmonary Exercise Testing and Ca-P in Chronic Kidney Disease (CKD)
Reductions in exercise capacity associated with exercise intolerance augment cardiovascular disease risk and predict mortality in chronic kidney disease.
- Trial name
- NCT04013139
- Testing
- CPET
- Where
- Iran
- Volunteers
- 200 people
- Sponsor
- Shahid Beheshti University of Medical Sciences
22q11.2 Deletion Syndrome
Genetic Modifiers for 22q11.2 Syndrome
The purpose of the project is the determination of how the deletion of DNA from chromosome 22 at the q11.2 band causes the phenotypes observed in velo-cardio-facial syndrome (VCFS).
- Trial name
- VCFS (NCT00916955)
- Testing
- Observation
- Where
- United States
- Sponsor
- State University of New York - Upstate Medical University
22q11.2 Deletion Syndrome
Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions
This is a 5-week, multi-center, open-label, dose optimization trial in subjects aged 12-17 years with 22q11DS who have a diagnosis of anxiety disorder, and/or ADHD, and/or ASD.
- Trial name
- NCT02895906
- Testing
- NFC-1
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Aevi Genomic Medicine, LLC, a Cerecor company
Fibrous Dysplasia, Albright Syndrome
Determination of Circulating Autotaxin in Patients With GNAS or PTH Abnormalities
PTH secretion defects (grouped under the name hypoparathyroidism) are due to abnormalities in the PTH gene, abnormalities in the development of the parathyroid glands which synthesize PTH or abnormalities of the calcium sening…
- Conditions
- Fibrous Dysplasia, Albright Syndrome, Adult Children, Hypoparathyroidism
- Trial name
- GNAS-AUTAX (NCT04671719)
- Testing
- blood sample
- Where
- 3 sites in France
- Volunteers
- 33 people
- Sponsor
- Hospices Civils de Lyon
Cancer
MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma
RATIONALE: MS-275 may stop the growth of cancer cells by blocking the enzymes necessary for their growth. PURPOSE: This phase I trial is studying the side effects and best dose of MS-275 in treating patients with advanced solid…
- Trial name
- NCT00020579
- Testing
- entinostat
- Where
- 3 sites in United States
- Volunteers
- 75 people
- Sponsor
- National Institutes of Health Clinical Center (CC)
X-linked Hypophosphatemia (XLH)
Effective Dosing of Burosumab in XLH
X-linked hypophosphataemia (XLH) is a rare, hereditary condition. The genetic defect leads to low blood phosphate levels and vitamin D suppression. Phosphate is required for strong bones and teeth and to store energy in cells.
- Trial name
- NCT07183579
- Where
- United Kingdom
- Volunteers
- 120 people
- Sponsor
- University of Nottingham
DiGeorge Syndrome, Velocardiofacial Syndrome
Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems.
- Conditions
- DiGeorge Syndrome, Velocardiofacial Syndrome, 22q11.2 Syndrome
- Trial name
- NCT00105274
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Mental Health (NIMH)
Chronic Kidney Disease-Mineral and Bone Disorder
To Investigate the Bone and Muscle Abnormalities in Patients With Chronic Kidney Disease With MRI
Patients with chronic kidney disease (CKD) have a higher risk of fractures than those without. The purpose of this study is to develop a non-invasive Magnetic resonance imaging (MRI) method that can improve fracture risk…
- Trial name
- NCT04564924
- Testing
- DXA
- Where
- China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Tongji Hospital