Multiple congenital anomalies/dysmorphic syndrome-intellectual disability

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

This early-phase trial is testing a new drug, FOG-001, in about 595 people with advanced or metastatic solid tumors, including colorectal, prostate, and liver cancers. The drug is given alone or with other cancer treatments to see if it is safe and shrinks tumors. The study is cu…

This study tests a new gene therapy called MZ-1866 for children and adults with Pitt Hopkins Syndrome, a rare genetic condition that affects development and breathing. The therapy is given as a single injection into the fluid around the brain. The main goal is to see if it is saf…

This study tests whether a purine-rich diet can lower disease markers in people with AICA-ribosiduria, a rare genetic condition causing severe disability and epilepsy. Ten participants will follow a diet with 160 mg of purines per day. Early results in one patient showed promise,…

This study is testing whether a drug called vorinostat is safe and helpful for people with Pitt Hopkins syndrome, a rare genetic condition that affects development. Five participants will each receive a placebo and two different doses of the drug in a special 'N-of-1' design, mea…

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 early-stage trial tests a gene therapy called Urbagen in 12 children aged 2-12 with CTNNB1 neurodevelopmental syndrome, a rare genetic condition causing motor and cognitive delays. The therapy is given as a single infusion into the brain fluid, along with immunosuppressant d…

This study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

This trial tests whether using two defibrillators in sequence, instead of the standard single defibrillator, can improve survival in people whose hearts are in a shockable rhythm but don't respond to the first shock. About 916 adults with out-of-hospital cardiac arrest will be ra…

This study is testing whether a non-invasive brain imaging technique called fNIRS can reliably measure brain function in people with Fragile X syndrome or Creatine Transporter Deficiency. Researchers will use a cartoon-based visual stimulus to record brain activity and compare it…

This study tests a new genetic technique called optical genome mapping (OGM) to find hidden DNA changes in children with multiple birth defects and intellectual disability. Standard genetic tests have already failed to find a cause for these children. Researchers will collect a b…

This study tests whether L-dopa, a drug used for Parkinson's, can improve movement and communication in children with a rare genetic disorder called CTNNB1 syndrome. The condition causes developmental delays, muscle stiffness, and trouble walking. Seven children aged 1 to 15 will…

This study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…

This study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …

This study tests a behavioral therapy for children with Cornelia de Lange syndrome (CdLS) who have problem behaviors like aggression or self-injury. Researchers will identify what triggers these behaviors and then train parents to use a tailored treatment. The goal is to reduce p…

This study looks at how to reduce the long and frustrating journey to a diagnosis for people with developmental abnormalities. Researchers will review past cases, collect new blood or skin samples, and use advanced genetic testing. The goal is to understand why some people remain…

This study checks if a French version of the MEPS/MEPI elbow score works well for children aged 4 to 17. It includes kids with and without elbow injuries to see if the score accurately measures elbow pain and function. The goal is to make sure doctors can use this tool reliably i…

This study aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…

This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

This study looks at facial features of males aged 2 to 40 with creatine transporter deficiency (CTD), a genetic disorder that causes intellectual disability, seizures, and behavioral issues. Researchers will examine photos of participants to see if they share common facial traits…

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 looks at people with creatine transporter deficiency, a rare genetic condition that causes intellectual disability, seizures, and movement problems. Researchers want to find the best tests to measure symptoms, since many standard tests are too hard for these patients. …

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

This study looks at psychiatric symptoms in people with White-Sutton syndrome, a rare genetic condition. Researchers will interview 30 children and adults and use standard questionnaires to identify anxiety, OCD, autism, and other issues. The goal is to better understand these sy…

This study collects information from people with ASXL-related disorders (such as Bohring-Opitz syndrome) to better understand how these conditions progress and are managed. No new treatments are tested; instead, participants share their medical history and records through surveys…

This study is collecting blood, tissue, and medical information from up to 1,000 people with RASopathies—a group of genetic conditions that affect development and raise cancer risk. Researchers will store these samples and data in a database for future studies. The goal is to lea…

The Dragonfly study is an international observational project tracking the development of 250 children and adults with CTNNB1 neurodevelopmental syndrome. Researchers will collect medical history, perform neurological exams, and use questionnaires to understand how symptoms and a…

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…