DiGeorge Syndrome(Deletion Syndrome)

Researchers are observing patients with Congenital Athymia who have been treated with RETHYMIC in this registry study. The goal is to understand the immune recovery process following treatment, the long-term survival of patients, and any special adverse events that may occur. RETHYMIC has shown potential to help rebuild the immune system and extend life in previous clinical studies. Patients receive an investigational treatment called Cultured Thymus Tissue, which is surgically implanted into the quadriceps muscle. The study follows patients prospectively, including those recently treated or scheduled to receive treatment within specific time frames. The registry collects medical history and clinical data from patient records at baseline and during follow-up visits. Participants are monitored starting the day after their treatment surgery. Researchers review clinical data and flow cytometry tests that measure immune cell counts. The main outcomes include vital status 12 months after treatment and detailed immune cell measurements right after surgery. The study also tracks any adverse events classified by severity. Follow-up and data collection continue to better understand treatment impact over time.

Researchers are studying adolescent idiopathic scoliosis (AIS), a condition where the spine curves during the adolescent growth spurt, but its exact cause remains unclear. The study focuses on girls and boys at higher risk for scoliosis development, including those with family history and those with 22q11.2 deletion syndrome (22q11.2DS). The goal is to understand differences in spine growth and changes before and during AIS onset using new non-radiation imaging methods. This observational study follows two groups: one of adolescent girls aged 8-10 years with family members diagnosed with AIS, and another of girls and boys aged 8-11 years diagnosed with 22q11.2DS. Participants will undergo spinal MRI and 3D ultrasound scans at multiple time points from ages 8 or 9 to 15 or 16, depending on gender. A hand radiograph for skeletal maturity assessment will be done once. The study aims to track anatomical spine changes over time without any intervention. Participants will have spinal MR imaging of the thoracic and lumbar regions at five scheduled ages to evaluate changes in spinal anatomy, including segmental rotation and disc morphology. Other assessments include spinal alignment, vertebrae and disc volumes, and nucleus pulposus shift. These imaging tests are radiation-free and repeated over several years to create a detailed longitudinal dataset. Parents will provide consent, and the study will monitor growth and scoliosis development until participants reach mid-adolescence.

22q11.2 deletion syndrome is a genetic disorder caused by the loss of a small part of chromosome 22. It can lead to a range of health issues including heart defects, facial abnormalities, immune deficiencies, kidney problems, hearing loss, developmental delays, learning disabilities, and increased risk of mental illnesses. The severity of symptoms varies widely among individuals, with some experiencing many problems and others having very few or none at all. This study seeks to understand why the severity differs by examining genetic variations in people with this syndrome. Participants will provide a sample of either blood or saliva during one study visit. Researchers will analyze the DNA from these samples to identify genetic differences that might influence how severe the disorder is in each person. This observational study does not involve treatments or interventions but focuses solely on genetic analysis. During the single visit, participants will undergo sample collection and may be asked to provide some medical history information. The main goal is to study the genetic material to find variations that could explain differences in symptom severity. There are no further visits or treatments, and the total time commitment is limited to the one study visit for sample collection and assessment.

Researchers are studying adults with rare and complex genetic syndromes that affect multiple body systems and often include intellectual disability. These patients typically receive specialized care from multiple specialists during childhood, but as medical advances have extended life expectancy, many are now living into adulthood. The study aims to understand the medical needs, comorbidities, medication use, and quality of life impacts for adults with these rare syndromes, addressing a gap in adult care and guidelines. This research involves a retrospective review of medical files, including medical history, laboratory results, additional tests, and records of physical and psychological complaints. There is no active treatment or intervention, as the study collects and analyzes existing data to gain insights about health issues and medication adaptations needed for these syndromes. Participants' medical records will be analyzed to evaluate the presence of physical health problems, laboratory values, physical and psychological complaints, and medication use over a one-year period. The study uses statistical software for analysis and aims to improve understanding of adult care needs for these rare genetic conditions. The study began in October 2018 and will continue through January 2030.

Researchers are evaluating hematopoietic stem cell transplantation (HSCT) with a reduced-intensity conditioning regimen including total body irradiation for people diagnosed with Common Variable Immunodeficiency (CVID) and other autoimmune manifestations of Primary Immune Regulatory Disorders (PIRD). This Phase II, open-label study focuses on correcting inheritable immune defects in patients aged 5 to 40 years. Genetic screening is required to identify relevant immune deficiencies such as CID, IPEX syndrome, and others. Participants will receive an allogenic stem cell transplant from a related or unrelated donor matched fully or partially by human leukocyte antigen (HLA). The conditioning regimen includes alemtuzumab/Campath, anti-thymocyte globulin, fludarabine, melphalan, and total body irradiation. Graft sources include bone marrow or mobilized peripheral blood stem cells. After the transplant, subjects are monitored for two years following standard care practices. During the study, participants will undergo regular evaluations including chimerism testing at multiple time points up to 24 months, immune function assessments such as immunoglobulin levels, and monitoring for graft-versus-host disease. The primary outcome is survival two years after transplant. Secondary outcomes include immune cell engraftment, immunoglobulin independence, and incidence of acute and chronic graft-versus-host disease. Safety and function are closely followed throughout the study period.

This research aims to observe the functional and developmental outcomes in children with neurodevelopmental disorders undergoing an intensive multimodal neurorehabilitation program. It focuses on pediatric participants aged approximately 4 to 12 years with conditions such as cerebral palsy, autism spectrum disorder, developmental delay, hypoxic ischemic encephalopathy, traumatic brain injury, and genetic or chromosomal abnormalities. The study seeks to understand the potential benefits of intensive therapy approaches on various neurodevelopmental domains. Participants attend individualized therapy sessions for about 2.5 hours per day, five days a week, over two consecutive weeks. The therapy is tailored to each child's needs and may include sensory integration, motor planning, reflex integration, oculomotor training, auditory processing, executive functioning tasks, communication support, emotional regulation training, and other neurodevelopmental exercises. Additional treatments like vibration, tactile stimulation, and photobiomodulation may be used based on clinician discretion. Throughout the study, clinicians assess changes in functional neurodevelopmental performance from baseline to the end of the two-week program, including attention, motor coordination, emotional regulation, communication, and daily living activities. Parent-reported outcomes on functional improvements and retention of gains are collected up to four weeks after the program. This observational study collects real-world data from children already enrolled in the therapy program without assigning specific treatments as part of the research.

Researchers are studying individuals with rare genetic changes linked to neurodevelopmental disorders and features of autism through an international, observational research program called Simons Searchlight. This program aims to gather detailed medical, behavioral, learning, and developmental information to enhance clinical care and treatment for people with these genetic differences. The study is supported by the Simons Foundation, which focuses on finding science-based solutions to improve lives. Participants join remotely via an online platform or phone, allowing English and Spanish-speaking families worldwide to take part at convenient times. They may provide blood or saliva samples, which are connected to their health and developmental data for research purposes. The collected information is anonymized and shared with qualified scientists globally to advance understanding of specific gene changes. During the study, baseline data is collected over about one month, with ongoing follow-up data gathered regularly to track changes over time. Participants provide comprehensive information about their medical, behavioral, learning, and developmental status. The study does not involve treatment but focuses on detailed data collection to support research. Participation can continue long-term, helping researchers monitor and learn from these rare genetic variants.

Researchers are evaluating sertraline, a selective serotonin reuptake inhibitor, versus placebo for treating anxiety in children and adolescents aged 8 to 17 years with neurodevelopmental disorders (NDDs), including autism, ADHD, Fragile X syndrome, and others. This pilot study aims to estimate how much sertraline may reduce anxiety symptoms across both common and rare NDDs, and to identify the best measures for anxiety outcomes in future larger trials. Participants will be randomly assigned to receive either oral sertraline capsules at doses ranging from 25mg to 200mg or matching placebo capsules. The study uses a quadruple-blind design to compare the effects over a 16-week period. Sertraline dosing and monitoring will follow this schedule during the treatment phase. During the trial, participants will be assessed using parent-reported anxiety scales, clinician global impression scores, quality of life measures, and blood tests for serotonin levels at 16 weeks. Researchers will monitor adverse events and overall improvement in anxiety. Participants will complete evaluations and questionnaires in English or French, with safety and treatment response closely tracked throughout the study period.

This research investigates the psychiatric and cognitive characteristics in people with Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS), and Fragile X Syndrome. It also explores connections between these conditions and developmental or molecular factors. The study is a phase 4 clinical trial aimed at better understanding these complex syndromes and their treatment responses. Participants will undergo evaluations that include cognitive testing both without and with the drug methylphenidate. The study also involves the use of other medications such as fluoxetine and risperidone to assess their effects. These treatments are being studied to observe their impact on psychiatric and cognitive symptoms in the syndromes mentioned. During the study, participants will have psychological assessments and molecular tests over a two-year period. Researchers will measure responsiveness to medical treatments and track changes in cognitive and psychiatric phenotypes. The study is non-blinded and sponsored by The Chaim Sheba Medical Center. Participants can expect monitoring and follow-up assessments to understand treatment effects and underlying biological factors.

Researchers are investigating the early behavioral signs that may signal the onset of psychotic disorders in children with 22q11.2 deletion syndrome (22q11.2DS), a common genetic condition linked to an increased risk of schizophrenia. This study aims to better understand social cognitive processes and behavioral changes that could lead to psychotic symptoms in children aged 4 to 13 years, including those without developmental diseases for comparison. The study involves two groups: children with 22q11.2DS and children without developmental disorders, both aged 4 to 13 years. Participants will complete neuropsychological tests, questionnaires, and experimental tasks to assess attention, behavior, gaze direction, and facial expression recognition. These activities include well-established batteries such as TEA-Ch, Rey's Tangled Lines Test, and NEPSY II, performed during a single study visit. During participation, children will undergo various assessments including anxiety-related emotional disorder screening and facial expression recognition tasks. Researchers will also measure sustained hearing attention, reaction times, and other cognitive functions. The study does not involve any drug treatments and participation includes behavioral testing and questionnaires completed by the children's legal representatives. The entire study visit occurs on one day, and the research will continue through September 2026 to gather comprehensive data from enrolled children.