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, affecting many parts of the body and leading to conditions such as heart defects, immune deficiencies, kidney issues, hearing loss, facial deformities, developmental delays, learning disabilities, and increased risk of mental illnesses like schizophrenia, depression, anxiety, and bipolar disorder. Severity varies widely, with some people showing many symptoms and others very few, sometimes without even knowing they have the syndrome. This research aims to identify genetic variations that influence the severity of 22q11.2 deletion syndrome by analyzing DNA from affected individuals. Participants in this observational study will provide genetic material collected from blood or saliva during one study visit. The study will analyze the DNA sequences to find genetic differences that might explain the varying severity of the disorder. This single-visit approach allows researchers to gather important genetic information without requiring ongoing treatment or intervention. During the single study visit, participants will provide a blood or saliva sample for DNA analysis. The study will focus on collecting and examining genetic data to understand how different genetic factors may impact the disorders severity. There are no treatments or medications involved, and participants will not have additional visits related to this study. The total involvement requires only one visit for sample collection and data gathering.

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 alemtuzumabCampath, 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 childs 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 conducting an international observational study called Simons Searchlight to learn more about families affected by rare genetic changes linked to neurodevelopmental disorders and features of autism. The study aims to improve clinical care and treatments by collecting detailed medical, behavioral, learning, and developmental information from people with these genetic variants. Participation is available to English and Spanish-speaking families worldwide, supporting remote involvement. Participants provide medical and developmental data through online or phone-based formats and may donate blood or saliva samples for genetic analysis. These samples are connected with the collected data to better understand how specific gene changes impact individuals. Personal identifying information is removed to protect privacy, and qualified researchers worldwide can access the anonymized data. During the study, participants share baseline information over about one month, with ongoing data collection occurring regularly to track changes over time. This includes medical histories, behavioral assessments, and developmental progress. The study is designed to gather comprehensive, long-term information to support research into targeted treatments and improved care for individuals with genetic and developmental differences.

Researchers are investigating whether sertraline, a selective serotonin reuptake inhibitor, can reduce anxiety in children and adolescents aged 8 to 17 years who have neurodevelopmental disorders, including autism, ADHD, tic disorders, and certain genetic conditions. This Phase 2 randomized, placebo-controlled trial aims to estimate sertralines effect size on anxiety reduction and identify the best measures to use in future larger trials. Anxiety disorders studied include separation anxiety, social anxiety, agoraphobia, generalized anxiety disorder, and unspecified anxiety disorder. Participants will be randomly assigned to receive either sertraline or a matching placebo capsule. Sertraline capsules come in doses of 25mg, 50mg, 100mg, or 200mg, taken orally. The treatment period lasts 16 weeks, with dosing adjusted as needed. The study monitors both common and rare neurodevelopmental disorders across a parallel design. During the study, participants will complete anxiety assessments including the Screen for Child Anxiety Related Emotional Disorders SCARED parent version, a Clinical Global Impressions improvement scale, quality of life questionnaires, and blood tests for serotonin levels. Safety is monitored through adverse event reporting. The research team will measure anxiety changes over the 16-week treatment. Participants will have regular visits during the study and their responses to treatment will be closely observed.

Researchers are evaluating a new non-invasive blood test called a circulating fetal cell CFC assay to assess fetal genetic conditions in pregnant individuals. This prospective study focuses on pregnant individuals between 10 and 20 weeks of gestation with singleton pregnancies. The CFC assay aims to detect fetal chromosomal abnormalities by isolating fetal cells from maternal blood, offering an alternative to invasive diagnostic procedures and current DNA fragment analysis methods. Participants include two groups those with clinical indications for CFC testing such as high-risk cell-free DNA results for common aneuploidies and those without clinical indications undergoing prenatal diagnostic testing. The study compares CFC assay results with prenatal invasive diagnostic testing or postnatal genetic and clinical diagnoses. Enrollment targets over 1,000 participants, and testing is conducted during the first trimester when fetal cells are most abundant. During the study, participants provide blood samples for the CFC assay between 10 and 20 weeks of pregnancy. The research team monitors concordance between the CFC test results and accepted diagnostic methods from enrollment up to 12 months postpartum. The study involves collecting clinical data and follow-up information to evaluate the accuracy of this non-invasive fetal risk assessment. Participation spans from early pregnancy through one year after enrollment.

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.