Clinical trials: Velo-Cardio-Facial Syndrome
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.
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
Immune Deficiency Disorders, Severe Combined Immunodeficiency
Immune Disorder HSCT Protocol
This study hypothesizes that a reduced intensity immunosuppressive preparative regimen will establish engraftment of donor hematopoietic cells with acceptable early and delayed toxicity in patients with immune function disorders.
- Conditions
- Immune Deficiency Disorders, Severe Combined Immunodeficiency, Chronic Granulomatous Disease, X-linked Agammaglobulinemia
- Trial name
- NCT01821781
- Testing
- Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Washington University School of Medicine
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
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
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
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.
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
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
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
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
Adolescent Idiopathic Scoliosis, 22q11.2 Deletion Syndrome
Early Scoliotic Changes in Children at Increased Risk for Scoliosis Development
Rationale: Despite several decades of research, the exact etiology of adolescent idiopathic scoliosis (AIS) remains unclear. In AIS, spine curvature begins with and progresses during the adolescent growth spurt.
- Trial name
- EARLYBIRD (NCT05924347)
- Testing
- MRI, Scolioscan, Skeletal maturity assessment
- Where
- Netherlands
- Volunteers
- 120 people
- Sponsor
- UMC Utrecht
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
22Q11 Deletion Syndrome, tACS
Using Transcranial Alternating Current Stimulation to Improve Executive Function in 22q11.2 Deletion Syndrome
The purpose of this project is to explore the effects of transcranial alternating current stimulation (tACS) in children, adolescents and young adults with a 22q11.2 microdeletion.
- Trial name
- NCT05664412
- Testing
- at-home tACS using Starstim-Home tES
- Where
- Switzerland
- Volunteers
- 40 people
- Sponsor
- Stephan Eliez
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
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
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
Covid19, Thymic Hypoplasia
Is Thymus Size of Infants Who Born to COVID-19 Positive Mothers Associated With Neonatal Morbidities?
COVID-19 infected pregnant women is thought to have variable degrees of inflammatory response against the disease. Investigators of present study, suggested that fetuses are affected from the possible fetal inflammatory syndrome…
- Trial name
- NCT04470739
- Testing
- chest x-ray
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Kanuni Sultan Suleyman Training and Research Hospital
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