Clinical trials: Hypoparathyroidism
Autism Spectrum Disorders
Social Interactions: Ocular Explorations and Pupillometry in Autism
The primary objective of this work will first to characterize in typical childhood, visual exploratory behavior and pupillary response associated with salience of human social stimuli (faces and body movements), and then to…
- Trial name
- ISEOP (NCT01647295)
- Where
- France
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Endocrine Procedural Complications, Thyroid
Intraoperative Monitoring to Predict Postoperative Complications After Thyroidectomy
The goal of this study is to evaluate the role of intraoperative continous and intermittent neuromonitoring and intraoperative parathormone (PTH) to predict postoperative nerve morbidity and hypocalcemia.
- Conditions
- Endocrine Procedural Complications, Thyroid, Parathyroid; Deficiency, Laryngeal Injury
- Trial name
- PARACAL (NCT03309384)
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Central Hospital, Nancy, France
22q11.2 Deletion Syndrome
Social Cognition Training and Cognitive Remediation
Social cognition refers to mental operations that enable people to perceive, interpret constantly changing social informations. These processes allow people to rapidly, effortlessly and flexibly perceive and interpret…
- Trial name
- RCKID (NCT03284060)
- Testing
- Cognitive remediation program
- Where
- France
- Volunteers
- 3 people
- Sponsor
- Hôpital le Vinatier
DiGeorge Syndrome, Shprintzen Syndrome
Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II.
- Conditions
- DiGeorge Syndrome, Shprintzen Syndrome, Chromosome Abnormalities, Abnormalities, Multiple
- Trial name
- NCT00005102
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- National Center for Research Resources (NCRR)
Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia
Characterization of Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism
Hypoparathyroidism (hypoPT) and pseudohypoparathyroidism (Ps-hypoPT) are rare diseases, characterized by low levels of parathyroid hormone [PTH] and plasma calcium or high plasma PTH and low plasma calcium, respectively.
- Conditions
- Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, Pseudohypoparathyroidism
- Trial name
- NCT02551120
- Where
- Denmark
- Volunteers
- 100 people
- Sponsor
- University of Aarhus
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.
Autosomal Dominant Hypocalcemia (ADH)
Efficacy and Safety of Encaleret Compared to Standard of Care in Participants With ADH1
The primary purpose of the study is to understand the effectiveness, safety, and tolerability of encaleret when compared to standard of care (SoC) treatment in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1).
- Trial name
- CALIBRATE (NCT05680818)
- Testing
- Encaleret, Standard of Care
- Where
- 25 sites in United States, Australia and 8 more
- Volunteers
- 67 people
- Sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio company
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
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
Velocardiofacial Syndrome
Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome
This study will test a computer-based treatment for youth with the genetic disorder velocardiofacial syndrome (VCFS) to help them improve skills in memory, attention, and executive functioning.
- Trial name
- NCT00917189
- Testing
- Challenging Our Minds Program
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- State University of New York - Upstate Medical University
DiGeorge Anomaly, Complete DiGeorge Anomaly
Phase I/II Thymus Transplantation With Immunosuppression #950
The study purpose is to determine if cultured thymus tissue implantation (CTTI) (previously described as transplantation) with tailored immunosuppression based on the recipient's pre-implantation T cell population is a safe and…
- Conditions
- DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete Atypical DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- #950 (NCT00579527)
- Testing
- Cultured Thymus Tissue for Implantation (CTTI), Cultured Thymus Tissue Implantation and Parental Parathyroid Transplantation, Blood Draw
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
DiGeorge Syndrome, DiGeorge Anomaly
Thymus Transplantation With Immunosuppression
The research purpose is to determine if thymus transplantation with immunosuppression is a safe and effective treatment for complete DiGeorge anomaly.
- Conditions
- DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- 884 (NCT00579709)
- Testing
- Thymus Tissue for Transplantation
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
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
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)
22q11.2 Deletion Syndrome, Velo-Cardio-Facial Syndrome
Cognitive Remediation in 22q11DS
The goal of this study is to collect preliminary data on the efficacy of a cognitive remediation program in improving the neurocognitive deficits in children with chromosome 22q11.2 deletion syndrome (22q11DS).
- Trial name
- NCT01781923
- Testing
- Cognitive remediation program, Small group social skills training
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- Duke University
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.
DiGeorge Syndrome, Hypoparathyroidism
Parathyroid and Thymus Transplantation in DiGeorge #931
This study has three primary purposes: to assess parathyroid function after parathyroid transplantation in infants with Complete DiGeorge syndrome; to assess immune function development after transplantation; and, to assess…
- Conditions
- DiGeorge Syndrome, Hypoparathyroidism, Complete DiGeorge Syndrome
- Trial name
- NCT00566488
- Testing
- Thymus/Parathyroid Transplantation
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Thyroid Cancer, Hypoparathyroidism
Near-Infrared Autofluorescence With PTH Test Strip as an SOP of Parathyroid in Thyroid Surgery
This is a prospective study aiming to establish near-infrared autofluorescence technology and PTH test strip as a standardized process for finding and identifying parathyroid glands in thyroid surgery.
- Conditions
- Thyroid Cancer, Hypoparathyroidism, Optical Imaging
- Trial name
- PTFINDER (NCT05684029)
- Testing
- Near-infrared devices, PTH test strip
- Where
- China
- Volunteers
- 101 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
Complete DiGeorge Anomaly, DiGeorge Syndrome
Thymus Transplantation Safety-Efficacy
Complete DiGeorge anomaly (cDGA) is a disorder in which there is no thymus function. With no thymus function, bone marrow stem cells do not develop into educated T cells, which fight infection.
- Conditions
- Complete DiGeorge Anomaly, DiGeorge Syndrome, DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- NCT01220531
- Testing
- Cultured Thymus Tissue
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH