Clinical trials: Hypoparathyroidism
22q.11.2 Deletion/Duplication
Non-Invasive Chromosomal Evaluation of 22q11.2
This study is being conducted to develop and evaluate a cell-free fetal DNA test (Harmony) for non-invasive prenatal detection of 22q11.2 chromosomal deletion or duplication.
- Trial name
- 22Q (NCT02541058)
- Where
- Belgium
- Volunteers
- 420 people, healthy volunteers welcome
- Sponsor
- Cindy Cisneros
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
Study to Assess the Blood Concentrations and Actions of Recombinant Human Parathyroid Hormone (rhPTH [1-84]) When Given Once and Twice Daily to Participants With Hypoparathyroidism
This study is being conducted to characterize the effects of twice daily administration of rhPTH(1-84) on the way the body handles rhPTH(1-84) as well as its actions and safety and tolerability over the course of 24 hours as…
- Trial name
- PARALLAX (NCT02781844)
- Testing
- 25mcg rhPTH(1-84), 50mcg rhPTH(1-84), 100mcg rhPTH(1-84)
- Where
- 15 sites in United States, Canada and 2 more
- Volunteers
- 34 people
- Sponsor
- Shire
22q11 Deletion Syndrome
NB-001 in Children and Adolescents With 22q11 Deletion Syndrome
This is a Phase 2, randomized, placebo-controlled crossover trial to assess the safety and efficacy of NB-001 in children and adolescents with 22q11DS that manifest commonly associated neuropsychiatric symptoms.
- Trial name
- NCT05290493
- Testing
- NB-001
- Where
- 4 sites in United States, Canada
- Volunteers
- 37 people
- Sponsor
- Nobias Therapeutics, Inc.
Comorbidities and Coexisting Conditions, Morality
Registry for Hypoparathyroidism Wuerzburg
Long-term conventional treatment of chronic hypoparathyroidism does not fully restore calcium homeostasis leading to increased morbidity, emergency events and reduced subjective health status.
- Conditions
- Comorbidities and Coexisting Conditions, Morality, Hypocalcemia, Hypercalcemia
- Trial name
- NCT05585593
- Where
- Germany
- Volunteers
- 300 people
- Sponsor
- University of Wuerzburg
Hypoparathyroidism, Osteoporosis
Assess Safety and Compare PK of New Oral hPTH(1-34) Tablet Formulations vs. EBP05 Tablets and Subcutaneous Forteo
The purpose of this study is to characterize and compare the pharmacokinetics of hPTH(1 34) after treatment with modified oral formulations (EBP11, EBP11-F1, EBP11-F2, EBP11-F4, EBP11-F5 and EBP22) versus three dose levels of…
- Conditions
- Hypoparathyroidism, Osteoporosis, Fractures, Bone, Other Disease
- Trial name
- NCT05965167
- Testing
- EBP05, Forteo 0.02 mg, EBP11
- Where
- Israel
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Entera Bio Ltd.
Velo-cardio-facial Syndrome, Psychosis
Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velocardiofacial Syndrome
This is an exploratory clinical investigation. The objectives of this study are to evaluate the safety, steady-state pharmacokinetics, and efficacy of metyrosine (Demser®) for the treatment of psychosis in patients with…
- Trial name
- NCT01127503
- Testing
- Metyrosine
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Bausch Health Americas, Inc.
Down Syndrome, Edwards Syndrome
Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
In January 2007, the American Congress of Obstetricians and Gynecologists (ACOG) revised its guidelines that now recommend physicians are ethically obligated to fully inform all pregnant women that screening for fetal chromosomal…
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02787486
- Testing
- Blood sampling for Laboratory Developed Test (LDT) analysis
- Where
- 8 sites in United States
- Volunteers
- 760 people
- Sponsor
- Progenity, Inc.
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
DiGeorge Syndrome, Complete Typical DiGeorge Anomaly
Thymus Transplantation in DiGeorge Syndrome #668
The study purpose is to determine whether cultured thymus tissue implantation (CTTI) is effective in treating typical complete DiGeorge syndrome.
- Trial name
- NCT00576407
- Testing
- Cultured Thymus Tissue for Implantation (CTTI)
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Post-Thyroidectomy Hypoparathyroidism
Psychological Problems in Post Thyroidectomy Patients
Quality of life (QoL) refers to perceived well-being, and encompasses the evaluation of physical health, and physical, social, and psychological functioning .
- Trial name
- NCT06929104
- Testing
- No intervention
- Volunteers
- 127 people
- Sponsor
- Assiut University
22q11.2 Deletion Syndrome
Arithmetic Abilities in Children With 22q11.2DS
The study ARITH22 will investigate the role of visuo-spatial attention on arithmetic abilities of children with 22q11.2 deletion syndrome.
- Trial name
- ARITH22 (NCT04373226)
- Testing
- Magnitude comparison tasks and neuropsychological testing
- Where
- France
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier
Intraoperative Parathyroid Scores System
Extended Application of Intraoperative Parathyroid Scores System(IPSS) in Thyroidectomy
after established the Intraoperative Parathyroid Scores System (IPSS) for thyroidectomy we further extented the clinical value of Intraoperative Parathyroid Scores System in Treatment decisions of calcium treatment time and…
- Trial name
- IPSS (NCT03191344)
- Testing
- with IPSS
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Fujian Medical University
Immune Defect, 22q11.2 Deletion Syndrome
Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome
Evaluate about age of resolution in immune defect in 22q11.2 Deletion Syndrome Incidence of immunodeficiencies in 22q11.2 Deletion Syndrome
- Trial name
- NCT02460328
- Where
- Thailand
- Volunteers
- 43 people
- Sponsor
- Mahidol University
Hypoparathyroidism
Translation and Validation of the Hypoparathyroidism Patient Experience Scales (HPES) Questionnaire in Greek
This is a crossectional study that will be conducted at several tertiary centers in Greece. To participate in the study, patients should be ≥18 years of age, fluent in Greek language, diagnosed with chronic HP, on optimal…
- Trial name
- HPES (NCT07160348)
- Testing
- Questionnaire and Physical Exam
- Volunteers
- 200 people
- Sponsor
- Aristotle University Of Thessaloniki
Hypoparathyroidism
Study of rhPTH(1-84) in Japanese Healthy Subjects Compared With Matched Caucasian Healthy Adult Subjects
The purpose of this study is to compare how rhPTH(1-84) affects the body between healthy adults of Japanese descent and matched, healthy Caucasian adults.
- Trial name
- NCT03150108
- Testing
- rhPTH(1-84)
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Shire
Hypoparathyroidism
Burden of Illness in Hypoparathyroidism
Long-term conventional treatment of chronic hypoparathyroidism does not fully restore calcium homeostasis leading to increased morbidity, emergency events and reduced subjective health status.
- Trial name
- NCT03437174
- Where
- 5 sites in Germany
- Volunteers
- 205 people
- Sponsor
- University of Wuerzburg
Chronic Hypoparathyroidism
Multicenter Registry Study of Chronic Hypoparathyroidism in Chinese Adults
This multicenter registry study aims to understand the status of diagnosis and treatment, quality of life, medical costs and unmet medical needs of adult patients with chronic hypoparathyroidism in China.
- Trial name
- PaTHwayR (NCT05214274)
- Testing
- No intervention would be taken
- Where
- 7 sites in China
- Volunteers
- 524 people
- Sponsor
- Peking University
Vitamin D Deficiency, Osteoporosis
Vitamin D Deficiency in Elderly African American Women in Central Texas
In order to make bone health a reality for older adults, we need to consider the prevalence of Vitamin D deficiency in relation to environment latitude as well as vitamin D supplementation.
- Conditions
- Vitamin D Deficiency, Osteoporosis, Osteopenia
- Trial name
- NCT01971411
- Testing
- Calcium 500mg with 200 IU Vitamin D - 2 tablets daily, Blood levels of Vitamin D, Serum CTX, Mg, Ca++ and iPTH, Usual sun exposure documentation
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- McLennan County Medical Education and Research Foundation
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