Clinical trials: 22q11.2 Deletion Syndrome
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)
Congenital Disorders
Prevalence and Clinical Spectrum of the 22q11 Deletion
The purpose of this project is to conduct population based surveillance for prenatally diagnosed congenital defects amount residents of the five counties to: improve the comprehensiveness of the Metropolitan Atlanta Congenital…
- Trial name
- NCT00267397
- Where
- United States
- Sponsor
- Children's Healthcare of Atlanta
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)
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
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
22q11.2 Deletion Syndrome
Effects of Methylphenidate on Brain and Cognition in 22q11 Deletion Syndrome
Chromosome 22q11.2 deletion syndrome (22q11DS) is a neurogenetic condition associated with a high risk of psychiatric disorders, including schizophrenia spectrum disorders.
- Trial name
- NCT04647500
- Testing
- Concerta
- Where
- Switzerland
- Volunteers
- 45 people
- Sponsor
- University of Geneva, Switzerland
DiGeorge Anomaly, DiGeorge Syndrome
Thymus Transplantation Dose in DiGeorge #932
One purpose of this study is to determine whether the amount of cultured thymus tissue implanted into DiGeorge anomaly infants has any effect on the immune outcome.
- Conditions
- DiGeorge Anomaly, DiGeorge Syndrome, Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
- Trial name
- NCT00576836
- Testing
- Cultured Thymus Tissue Implantation (CTTI), Cultured Thymus Tissue Implantation with Parathyroid Transplantation
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
Complete DiGeorge Anomaly, Complete DiGeorge Syndrome
Congenital Athymia Patient Registry
This Congenital Athymia Patient Registry is an observational exposure-based registry study. It uses a prospective cohort design to follow patients who have been treated with RETHYMIC.
- Conditions
- Complete DiGeorge Anomaly, Complete DiGeorge Syndrome, Congenital Athymia
- Trial name
- NCT05329935
- Testing
- Cultured Thymus Tissue
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
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
Hypoparathyroidism, DiGeorge Syndrome
Effects of PTH Replacement on Bone in Hypoparathyroidism
Hypoparathyroidism is a rare condition associated with a low level of parathyroid hormone (PTH) in the blood. Hypoparathyroidism can be genetic and show up in childhood, or it can occur later in life.
- Trial name
- NCT00395538
- Testing
- PTH 1-34
- Where
- United States
- Volunteers
- 46 people
- Sponsor
- National Institute of Dental and Craniofacial Research (NIDCR)
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.
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
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
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
Down Syndrome, Edwards Syndrome
Whole Blood Specimen Collection From Pregnant Subjects
To obtain whole blood specimens from pregnant subjects to be used for research and development and clinical validation studies of prenatal assays.
- Conditions
- Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome
- Trial name
- NCT02430584
- Testing
- Observational - no intervention
- Where
- United States
- Volunteers
- 5,000 people, healthy volunteers welcome
- Sponsor
- Progenity, Inc.
22q11 Deletion Syndrome Di George Syndrome
Prenatal Examination of Deletion 22q11 Syndrome : Thymic Dysgenesis THYMI Study
22q11.2 microdeletion seems the prenatally under-diagnosed . Indeed , there is a mismatch between the series on the heart rate of 22q11.2 antenatal 84% against 30% in the adult series despite a perinatal mortality of 16%…
- Trial name
- NCT02890472
- Where
- France
- Volunteers
- 13 people
- Sponsor
- Centre Hospitalier Universitaire de Nīmes
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)
Ear Malformations in the Velocardiofacial Syndrome
Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome
Middle and inner ear malformations on two boys with velocardiofacial syndrome are discussed.Special attention should be given to the presence of hearing loss due to middle and inner ear malformations, in addition to frequent…
- Trial name
- NCT00784173
- Volunteers
- 2 people
- Sponsor
- Pontificia Universidade Catolica de Sao Paulo
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
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