Clinical trials: 22q11 Deletion Syndrome
22q11.2 Deletion Syndrome
Understanding of Psychotic Disorders in Children With 22q11.2DS
The study PremiCeS22 will investigate the prodromal signals at the onset of psychotic disorders of children with 22q11.2 deletion syndrome
- Trial name
- PremiCeS22 (NCT04639388)
- Testing
- neuropsychological testing, questionnaires and experimental tasks
- Where
- France
- Volunteers
- 80 people, healthy volunteers welcome
- 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)
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
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
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
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.
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
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.
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
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
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
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.
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
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