Deletion/Microduplication Syndrome

Researchers are evaluating the safety, tolerability, pharmacokinetics, and pharmacodynamics of the drug ION440 in people with Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS). This phase 1-2 randomized, double-blind, sham-controlled study includes both pediatric and adult participants to better understand how ION440 affects this rare genetic condition. The study is sponsored by Ionis Pharmaceuticals, Inc. and aims to carefully monitor treatment impacts over time. Participants will be randomly assigned to receive one of three different doses of ION440 or a sham procedure during the first part of the study, which lasts about 36 weeks. ION440 is given by injection into the spinal fluid (intrathecal bolus). After completing the first part, participants may enter a second open-label extension lasting up to approximately 156 weeks, where they receive the same dose of ION440 as before. The study includes two age groups: children aged 2 to 7 years and participants aged 8 to 65 years. The dosing groups are evaluated sequentially, starting with the older group. During the study, participants will undergo physical and neurological exams, vital sign checks, lab tests, electrocardiograms, and monitoring for any adverse effects. Blood and cerebrospinal fluid samples will be collected to measure drug levels. The study will assess the number of participants experiencing treatment-related side effects and changes in health markers over both the initial 36-week period and the longer extension. Participants are expected to complete all study visits and procedures to support these evaluations, which together may last more than three years.

Myelodysplastic syndromes (MDS) are chronic blood disorders marked by ineffective blood cell production and normal marrow richness. This research aims to understand the biological and clinical aspects of MDS, including its progression to acute leukemia, which occurs in 30 to 40% of cases. The study focuses on the genetic and molecular diversity of MDS and seeks to identify markers predicting disease progression through a biocollection. The study involves collecting and analyzing biological material from patients diagnosed or suspected of having MDS. It explores three key scientific projects: splicing abnormalities related to SF3B1 mutations, the role of chromosomal deletions such as 5q affecting splicing genes RBM22 and SLU7, and the progression of MDS to acute myeloid leukemia by studying the clonal architecture of malignant cells. These projects use advanced genetic and molecular analysis techniques to deepen understanding of MDS mechanisms. Participants provide biological samples and clinical data, which are used for detailed genetic and functional studies. The study monitors patients over time to observe disease evolution and identify prognostic markers. The primary outcome is an epidemiologic study of the MDS patient cohort over five years. Participation includes consenting to data and sample collection, enabling researchers to analyze molecular changes and better understand MDS progression and prognosis.

Researchers are studying Canadian cancer patients who have rare genetic changes in their tumors, such as alterations in genes like ALK, EGFR, ROS1, BRAF, and KRAS G12C. These rare molecular alterations can affect how the cancer responds to certain targeted drugs called tyrosine kinase inhibitors (TKIs). The study aims to better understand the natural history of these cancers and compare treatment outcomes, including side effects and patient-reported experiences, across different therapies. The study observes cancer patients who have received or are currently receiving TKIs or other targeted therapies. It includes three groups: living patients with confirmed rare molecular alterations, deceased patients with such alterations, and a comparator group of cancer patients without these rare changes. Patient-reported outcomes are collected through surveys at baseline and every three months, especially when treatments change. Participants provide molecular testing reports and complete quality of life questionnaires regularly for up to 10 years. Researchers track progression-free survival or overall survival, the development of brain metastases, and economic impacts related to treatment. The study collects data from medical records and patient surveys to understand treatment patterns, effectiveness, and quality of life in the real-world Canadian context.

Researchers at the University of Texas Health Science Center at San Antonio are studying individuals with chromosome 18 abnormalities to better understand the genetic causes and effects of these conditions. The study aims to identify how growth hormone deficiency and other genetic factors impact brain structure and cognitive function, as well as physical and behavioral traits. The goal is to provide comprehensive medical and educational resources, perform clinical and basic research, and develop treatments to improve the lives of affected individuals. Participants undergo various evaluations including genetic testing of DNA from subjects and their parents to determine genotype. Clinical assessments include testing growth hormone and other hormone levels, psychiatric and neuropsychological evaluations, audiology and ENT exams, brain MRI scans, genetic dysmorphology, neurology, dental, speech pathology, gastrointestinal, orthopedic, and ophthalmologic examinations. These assessments are longitudinal, with participants of a wide age range, and not all tests apply to every participant at every visit. Participants will be involved in thorough clinical evaluations and multiple specialized exams over time to gather detailed health data. These include hormone tests, brain imaging, behavioral and cognitive assessments, and physical exams. Researchers will monitor growth hormone status and other health markers to understand the condition's impact. The study is ongoing and designed to provide long-term data to guide future treatments and support. Total participation time varies depending on individual assessments and follow-up needs.

This research focuses on patients with a rare condition called Chromosome 9P Deletion Syndrome, where a part of chromosome 9 is missing. Because only about 200 cases have been reported in medical literature, the study aims to better understand the link between the specific deleted genes and the diverse physical traits seen in affected individuals. Researchers will use advanced genome sequencing techniques to analyze the size and location of the chromosome deletion and examine the genetic background of each patient. Participants will undergo whole genome sequencing to gather detailed genetic information. Alongside this, they will complete a thorough questionnaire and provide a biospecimen sample for analysis. Family members, such as parents and siblings, may also participate to help clarify how genetic background influences physical characteristics related to the condition. During the study, participants will provide medical information through questionnaires and biospecimens, which researchers will use to identify correlations between genetic changes and physical traits. The main outcome measured is the relationship between genotype and phenotype, with preliminary results expected as enrollment increases. The study is observational, and participants' involvement will mainly consist of providing samples and information for research purposes.

This research aims to collect detailed information on the history and real-world treatment of patients diagnosed with chronic lymphocytic leukemia (CLL) across multiple centers in Turkey. The study seeks to better understand how CLL is managed in both community and academic healthcare settings and to evaluate the effectiveness of first, second, and later treatment strategies used for this condition. As an observational study, it does not involve experimental treatments or interventions but instead gathers data from patients diagnosed with CLL. The study follows patients over time to observe the distribution of first-line therapy protocols within 36 months. This approach allows researchers to see how treatments are applied in everyday clinical practice and their outcomes. Participants will be involved through regular data collection regarding their diagnosis and treatment history. Researchers will review medical records and treatment patterns to assess therapy use and outcomes. The primary outcome measure focuses on the types of first-line therapy given over a three-year period. The study spans several years, starting in 2017 and continuing through at least August 2026.

Researchers are studying RAI1-related disorders, including Smith-Magenis syndrome and Potocki-Lupski Syndrome, to better understand disease features and identify clinical, neurophysiological, and molecular biomarkers. These biomarkers can help diagnose, monitor treatment response, and track disease progression. Currently, there are no genetic-based treatments or established biomarkers for these conditions, so this observational and laboratory study aims to fill that gap. Participants include patients with RAI1-related disorders and healthy family members as controls. Patients will undergo clinical examinations, blood draws, and some may have a sleep study or optional skin biopsy. The sleep study records brain waves, oxygen levels, heart rate, and movements during an overnight stay. Blood samples will be used for molecular biomarker research, and skin biopsies may create cell lines for laboratory study. Participants will complete a one-time visit that may include overnight monitoring for the sleep study. Assessments include medical history, physical and neurological exams, vital signs, sleep and EEG studies, blood draws, and optional skin biopsies. Researchers will compare patient and control blood samples to identify biomarkers. The study measures neurological findings, sleep abnormalities, and molecular markers related to RAI1. Participation may last one day with possible additional visits if needed.

This research aims to build a large platform combining clinical information and biological specimen banks for fetuses and infants diagnosed with intrauterine growth restriction (IUGR) or congenital anomalies. These conditions are significant causes of infant and childhood death, and this study seeks to understand their occurrence, progression, and relationship from before birth through early childhood. The goal is to provide a foundation for accurate diagnosis, precision treatment, and careful management of these conditions. Pregnant women and infants diagnosed with IUGR or various congenital anomalies (including structural and chromosomal anomalies) are enrolled. Routine obstetrical ultrasounds monitor fetal growth, and detailed maternal information, including dietary habits and exposures, is collected. After birth, infants receive appropriate treatments and regular physical and neurological examinations. Biological samples such as maternal blood, placenta, cord blood, infant blood, urine, stool, and tissues are collected and stored for research. Genetic testing is also conducted to explore disease causes and guide treatment. Participants undergo ongoing assessments including growth and development measurements, clinical outcome tracking, and evaluation of treatment effects on hospitalization and health. Data are collected via intelligent extraction platforms and analyzed using machine learning and statistical methods to improve prenatal diagnosis accuracy and identify prognostic markers. The study includes follow-ups up to several years to observe recovery and quality of life, supporting improved prevention and care strategies.

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.