Clinical trials: 22q11.2 Deletion Syndrome
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)
Chromosome 22q11.2 Deletion Syndrome
Genetics and Psychopathology in the 22q11 Deletion Syndrome
The purposes of this study are to: 1. study the nature and longitudinal course of psychiatric symptoms in children with the 22q11.2 deletion syndrome and 2. identify genes that contribute to the occurrence of these symptoms.
- Trial name
- NCT00161109
- Where
- 2 sites in United States, Netherlands
- Volunteers
- 175 people, healthy volunteers welcome
- Sponsor
- UMC Utrecht
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, Congenital Heart Defects
Infection in DiGeorge Following CHD Surgery
We propose a retrospective review of patients with DiGeorge syndrome having undergone cardiac surgery to evaluate the incidence of blood stream and/or surgical site infection.
- Trial name
- NCT00278005
- Where
- United States
- Volunteers
- 400 people
- Sponsor
- Children's Healthcare of Atlanta
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.
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
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.
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
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
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
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)
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
22Q11 Deletion Syndrome
Mindfulness Program for Adolescents With 22q11DS
The goal of this study is to evaluate the effectiveness of the Aware Program, an online mindfulness education program, with adolescents with 22q11DS and their parents.
- Trial name
- NCT05849441
- Testing
- Aware Program
- Where
- United States
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- Innovation Research & Training
Di George Syndrome
Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11
The 22q11.2 microdeletion syndrome (22q11.2DS) is a rare disease with a psychiatric phenotype. Indeed, the diagnosis of schizophrenia is made in 5 to 10% of adolescents and 25 to 40% of adults carrying the 22q11DS.
- Trial name
- CSRK05 (NCT04141540)
- Testing
- Molecular analyses
- Where
- France
- Volunteers
- 2 people
- Sponsor
- Hôpital le Vinatier
22q11.2 Deletion Syndrome
Neuroprotective Effects of Risperdal 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
- NCT04639960
- Testing
- Risperdal
- Where
- Switzerland
- Volunteers
- 16 people
- Sponsor
- University of Geneva, Switzerland
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, 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
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
22Q11.2 Deletion Syndrome
Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)
To evaluate the safety and tolerability of ZYN002 administered as a transdermal gel formulation, for up to 38 weeks, in participants ages 4 to <18 years, in the treatment of 22q.11.2 Deletion syndrome (22qDS).
- Trial name
- INSPIRE (NCT05149898)
- Testing
- ZYN002
- Where
- 3 sites in United States, Australia
- Volunteers
- 20 people
- Sponsor
- Harmony Biosciences Management, 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