Syndrome caused by partial chromosomal duplication

This early-phase trial tests a stem cell product called EN001 in 27 adults with Charcot-Marie-Tooth disease type 1A, a genetic nerve disorder that causes muscle weakness. The study has two parts: first, an open-label phase to check safety and find the right dose; second, a placeb…

This early-stage trial tests a new drug called EDK060 in 28 adults with Charcot-Marie-Tooth type 1A, a genetic nerve disorder. Participants receive a single dose of EDK060 or a placebo to check safety and how the drug moves through the body. The goal is to see if EDK060 is safe e…

This study tests a new drug called ION440 in 48 people with MECP2 duplication syndrome, a rare genetic condition that causes intellectual disability and seizures. The drug is given via a spinal injection to see if it is safe and how the body processes it. Some participants will r…

This study looks at how certain brain cells (cholinergic neurons) change with age in adults with Down syndrome, and how that relates to Alzheimer's disease risk. Researchers will use brain scans and EEGs to measure these changes in 30 adults aged 18-55 who do not have dementia. T…

This study aims to understand how the brain develops in children with Williams syndrome or 7q11.23 duplication syndrome, compared to healthy children. Researchers will use MRI scans and cognitive tests to track changes over time. The goal is to learn how these genetic variations …

This observational study follows up to 2,000 people with Williams syndrome or related chromosome changes, along with their family members. Researchers will track health, development, behavior, and quality of life from childhood through adulthood. They are also building a biobank …

This observational study aims to find biological markers (biomarkers) for RAI1-related disorders, including Smith-Magenis and Potocki-Lupski syndromes. Researchers will study 90 participants through clinical exams, blood tests, optional skin biopsies, and sleep studies. The goal …

This study aims to learn more about the medical and behavioral effects of two rare genetic conditions: 3q29 deletion and 3q29 duplication syndromes. Researchers will collect health and behavior data from 800 participants, including those with the syndromes and healthy siblings. T…

This study looks at how often people with Charcot-Marie-Tooth disease (CMT) have problems with their autonomic nervous system, which controls things like heart rate and sweating. Researchers will use questionnaires and simple, non-invasive tests to measure these symptoms in 50 ad…

This study aims to find early biological markers (biomarkers) for Charcot-Marie-Tooth disease type 1A (CMT1A), a common inherited nerve disorder. Researchers will analyze blood and nerve samples from 70 people aged 10-30 with CMT1A, along with animal models, to identify signs tha…

This study follows 75 adults with CMT1A and 25 healthy volunteers over five years to track how the disease progresses. Researchers will analyze blood and skin samples to find biomarkers that could make future clinical trials faster and more reliable. The goal is to better underst…

This study looks at how nerves work in people with Charcot-Marie-Tooth disease and other nerve disorders like CIDP. Researchers will use special electrical tests and ultrasound to measure nerve and muscle changes. The goal is to better understand these conditions, not to test a n…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This study aims to find new genes that cause Charcot-Marie-Tooth disease (CMT) and discover why symptoms differ among people with the same genetic change. Researchers will analyze DNA from up to 1,050 participants to identify genetic modifiers and unknown causes. The goal is to b…