Clinical trials: DiGeorge Syndrome
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
Microdeletion Syndromes, Trisomy 21
Development of Non-invasive Prenatal Test for Microdeletion and Other Genetic Syndromes Based on Cell Free DNA
The purpose of this study is to collect blood from families with a child who has been diagnosed with a chromosomal disorder including microdeletions in order to further develop a non-invasive prenatal screening test based on…
- Conditions
- Microdeletion Syndromes, Trisomy 21, Trisomy 18, Trisomy 13
- Trial name
- Microdel Triad (NCT02109770)
- Where
- 2 sites in United States
- Volunteers
- 216 people
- Sponsor
- Natera, Inc.
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
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
Pregnancy
Reducing False Positives in Prenatal Screening
Combined first-trimester screening represents the gold standard of risk assessment for the presence of trisomy 21, 18, and 13. The concept is based on the age risk, the measurement of fetal nuchal translucency (NT), and the…
- Trial name
- ReFaPo02 (NCT03375359)
- Testing
- cfDNA screening
- Where
- Germany
- Volunteers
- 1,127 people, healthy volunteers welcome
- Sponsor
- University Hospital Tuebingen
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.
Schizophrenia
Perception of Facial Emotions in Schizophrenia and 22q11 Deletion Syndrome
Background: The present study aims to identify the mechanisms underlying the deficit in facial emotion recognition reported both in schizophrenia and the 22q11.2 deletion syndrome, and thus, reveal a distinction between the two…
- Trial name
- FaSchi22 (NCT02634671)
- Testing
- schizophrenia, the 22q11 deletion syndrome, control group
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Hôpital le Vinatier
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
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
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.
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.
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
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
Transposition of Great Vessels
Physical Training in Transposition of the Great Arteries
In transposition patients after atrial switch operation, the morphological right ventricle serves as the systemic ventricle. These patients often develop signs of heart failure.
- Trial name
- TrainingTGA (NCT00837603)
- Testing
- Training
- Where
- Germany
- Volunteers
- 48 people
- Sponsor
- Hannover Medical School
DiGeorge Anomaly
Serum-Free Thymus Transplantation in DiGeorge Anomaly
The study purpose is to determine if thymus tissue cultured in a serum-free (SF) solution is a safe and effective treatment for atypical and typical complete DiGeorge anomaly. [Funding Source - FDA OOPD]
- Trial name
- SerumFree (NCT00849888)
- Testing
- Serum Free Thymus Transplantation with Immunosuppression, Serum Free Thymus Transplantation without immunosuppression
- Volunteers
- 2 people
- Sponsor
- Sumitomo Pharma Switzerland GmbH
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)
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)
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
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
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