Clinical trials: Parathyroid; Anomaly, open to volunteers
Hypoparathyroidism, Pseudohypoparathyroidism
German Hypoparathyroidism Registry
Chronic hypoparathyroidism is a rare condition in which the parathyroid glands do not make enough parathyroid hormone (PTH). PTH helps control the levels of calcium and phosphate in the blood.
- Trial name
- HyPaReg (NCT07857460)
- Where
- Germany
- Volunteers
- 150 people
- Sponsor
- University Hospital Augsburg
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
Velocardiofacial Syndrome, Williams Syndrome
The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
The purpose of this study is to investigate the Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to…
- Conditions
- Velocardiofacial Syndrome, Williams Syndrome, Fragile X Syndrome
- Trial name
- VCFS (NCT00768820)
- Testing
- methylphenidate, fluoxetin, risperidone
- Where
- Israel
- Volunteers
- 400 people
- Sponsor
- The Chaim Sheba Medical Center
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
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency…
- Conditions
- Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome
- Trial name
- CVID/PIRD (NCT07284641)
- Testing
- Hematopoietic stem cell transplant (HSCT)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
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.
AKI, CKD
Genetics in the Progression of Nephropathies
This study evaluates the role of genetic in the development and progression of different nephropaties with particular attention to: AKI CKD Hypertension ADPKD CKD-MBD Patients with decompensated heart failure undergoing either…
- Conditions
- AKI, CKD, Ckd-Mbd, CKD (Chronic Kidney Disease) Stage 5D
- Trial name
- NCT06416761
- Testing
- genetic polymorphisms
- Where
- Italy
- Volunteers
- 10,000 people
- Sponsor
- Ospedale San Raffaele
Prader-Willi Syndrome, PWS-like Syndrome
GROWing Up With Rare GENEtic Syndromes
Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome.
- Conditions
- Prader-Willi Syndrome, PWS-like Syndrome, Silver Russel Syndrome, Congenital Hypopituitarism
- Trial name
- GROW UR GENES (NCT04463316)
- Testing
- Retrospective file studies
- Where
- Netherlands
- Volunteers
- 600 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
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
Neurodevelopmental Disorders, Autism
Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
There are currently no approved medications for the treatment of anxiety in children and youth with neurodevelopmental disorders (NDDs), both common and rare.
- Conditions
- Neurodevelopmental Disorders, Autism, Autism Spectrum Disorder, Fragile X Syndrome
- Trial name
- CALM (NCT06081348)
- Testing
- Sertraline
- Where
- 7 sites in Canada
- Volunteers
- 130 people
- Sponsor
- Holland Bloorview Kids Rehabilitation Hospital
Primary Hyperparathyroidism, Parathyroid Cancer
Accuracy of 18F-Fluorocholine PET/MR and NeuroEXPLORER PET/CT Imaging for Localization of Parathyroid Tumors
Background: People have 4 parathyroid glands near the thyroid gland in the neck. Surgery is needed to remove a parathyroid gland that is too large or has a tumor.
- Conditions
- Primary Hyperparathyroidism, Parathyroid Cancer, Multiple Endocrine Neoplasias, Heritable Hyperparathyroidism
- Trial name
- NCT07444723
- Testing
- 18F-FCH, NeuroEXPLORER
- Where
- United States
- Volunteers
- 193 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Adolescent Idiopathic Scoliosis, 22q11.2 Deletion Syndrome
Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development
Rationale: Despite several decades of research, the exact etiology of adolescent idiopathic scoliosis (AIS) remains unclear. In AIS, spine curvature begins with and progresses during the adolescent growth spurt.
- Trial name
- EARLYBIRD (NCT05924347)
- Testing
- MRI, Scolioscan, Skeletal maturity assessment
- Where
- Netherlands
- Volunteers
- 120 people
- Sponsor
- UMC Utrecht
Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD)
Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
This observational study evaluates functional and developmental outcomes in pediatric participants undergoing a two week intensive multimodal neurorehabilitation program.
- Conditions
- Neurodevelopmental Disorders, Neurodevelopmental Disorders (NDD), Neurodevelopmental Disorders and Developmental Abnormalities, Developmental Delay (Disorder)
- Trial name
- GEN-HOPE (NCT07493096)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Healing Hope International
Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs.
- Conditions
- Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract, Neuroendocrine Neoplasm of Lung, Thymic Neuroendocrine Neoplasm
- Trial name
- NCT06523582
- Where
- 3 sites in Mexico
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Universidad Nacional Autonoma de Mexico
DiGeorge Syndrome, 22q11.2 Deletion Syndrome
Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
22q11.2 deletion syndrome is a genetic disorder that can cause heart defects, facial abnormalities, and developmental and learning disabilities. The severity of the disorder can vary widely among people.
- Trial name
- NCT00556530
- Where
- United States
- Volunteers
- 1,000 people
- Sponsor
- Albert Einstein College of Medicine
Fragile X Syndrome, Angelman Syndrome
Parent and Infant Inter(X)Action Intervention (PIXI)
The objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or…
- Conditions
- Fragile X Syndrome, Angelman Syndrome, Prader-Willi Syndrome, Dup15Q Syndrome
- Trial name
- NCT03836300
- Testing
- Parent-Infant Inter(X)action Intervention (PIXI)
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- RTI International
Hypoparathyroidism, Pseudo Hypoparathyroidism
Institution of an Italian Multicenter Database of Patients Affected by Hypoparathyroidism or Pseudohypoparathyroidism
The goal of this observational study is to create, manage and analyze a multicenter national database of patients affected by hypoparathyroidism or pseudohypoparathyroidism, aimed at collecting and studying anamnestic…
- Trial name
- NCT06645899
- Where
- 41 sites in Italy
- Volunteers
- 600 people
- Sponsor
- F.I.R.M.O. - Fondazione Italiana Ricerca sulle Malattie dell'Osso - Ente del Terzo Settore
Parathyroid Cancer, Primary Hyperparathyroidism
Natural History Study of Parathyroid Disorders
Background: Parathyroid disorders are very common in the general population and include disorders of parathyroid excess, deficiency, or defects in parathyroid hormone (PTH) signaling.
- Conditions
- Parathyroid Cancer, Primary Hyperparathyroidism, Pseudohypoparathyroidism, Inheritable Bone Diseases
- Trial name
- NCT04969926
- Where
- United States
- Volunteers
- 3,000 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Breast Carcinoma, Prostate Cancer Surgery
High-resolution PET-CT Specimen Imaging for the Perioperative Visualization of Resection Margins
These are patients in whom a benign or malignant tumor was recorded requiring surgery. During that surgery, the surgeon will cut away the tumor as part of the treatment of the disease.
- Conditions
- Breast Carcinoma, Prostate Cancer Surgery, Thyroid Cancer, Parathyroid Adenomas
- Trial name
- NCT06835426
- Testing
- Single intravenous injection of the radiotracer, Imaging resected specimen using the high-resolution PET-CT specimen imager
- Where
- Belgium
- Volunteers
- 150 people
- Sponsor
- Algemeen Ziekenhuis Maria Middelares
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