Intellectual disability

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 whether adding hands-on cooking classes to a standard weight loss program helps young adults (18-35) with mild-to-moderate intellectual disabilities lose more weight and keep it off. Over 24 months, 114 participants will either follow a healthy eating plan with c…

This trial tests whether methylphenidate, a standard ADHD medication, can reduce attention and hyperactivity problems in children and adolescents with KBG syndrome, a rare genetic condition often accompanied by ADHD-like symptoms. Participants receive alternating blocks of the dr…

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 study tests whether playing digital brain games on the MentalUP app can improve visual memory and cognitive skills in young adults (18-35) with mild to moderate intellectual disabilities. Sixty participants will be split into two groups: one plays the games, the other contin…

This trial tests a single injection of MELPIDA, a gene therapy that delivers a working copy of the AP4M1 gene directly into the spinal fluid of children with SPG50. SPG50 is a rare genetic condition that causes muscle stiffness, intellectual disability, and developmental delays. …

This study tests a drug called deutetrabenazine for tardive dyskinesia (uncontrollable movements) in 25 adults with intellectual/developmental disabilities and psychiatric or behavioral disorders. Participants will take the medication for 24 weeks to see if it reduces movement pr…

This study is for adults with recurrent glioblastoma, an aggressive brain cancer. It tests whether adding a precise type of radiation (stereotactic radiosurgery guided by a special PET scan) to a device that delivers electric fields to the brain (TTFields) helps people live longe…

This study tests a one-time gene therapy called TSHA-102 in girls aged 2 to 4 with Rett syndrome, a severe genetic disorder. The therapy is given as a single injection into the spine. The main goal is to check if it is safe and tolerable, and to see early signs of whether it help…

This program offers early access to tiratricol, a thyroid hormone-like drug, for people with Allan-Herndon-Dudley syndrome (AHDS), a rare genetic condition that affects brain development and movement. Patients must have a confirmed genetic diagnosis and be considered likely to be…

This study tests whether metformin, a diabetes drug, can help adults with intellectual disabilities who have gained weight from antipsychotic medications. One hundred participants will receive either metformin or a placebo for 24 weeks, along with lifestyle advice. The goal is to…

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 a drug called DITPA in male infants with MCT8 deficiency, a rare genetic disorder that causes severe intellectual disability and movement problems. The drug aims to improve thyroid hormone function in the brain. Only infants whose families have a history of the c…

This study tests whether giving a single dose of a common antibiotic soon after a breathing tube is placed can prevent lung infections and improve survival in ICU patients with severe brain injuries. Researchers will enroll 3,300 adults on ventilators due to stroke, trauma, or la…

This study tests whether a short telehealth interview 3-7 days before a dental checkup helps patients with intellectual or developmental disabilities (IDD) have a smoother visit. About 50 youth with IDD and their caregivers will be randomly assigned to receive the telehealth call…

This study tests a new medicine called CTH120 in 30 adult men with Fragile X syndrome. The main goal is to see if the drug is safe and tolerable, while also checking if it helps improve symptoms. Participants will receive the drug and be monitored closely for side effects and cha…

This study adapts a group therapy program called Regulating Together for children aged 8-12 with autism and intellectual disability who struggle with emotions like irritability and aggression. The therapy uses relaxation, mindfulness, and parent training to help kids regulate the…

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 a mobile team of pain specialists who visit children and young adults (up to age 25) with moderate to severe intellectual disabilities, autism, or multiple disabilities. The team works with families and caregivers to assess and manage pain in the patient's usual …

This study aims to understand the genetic causes of brain development disorders, including Aicardi syndrome, polymicrogyria, and Dandy-Walker malformation. Researchers will analyze genetic data from 2000 participants with these conditions, all confirmed by MRI. The goal is to use…

This study aims to identify the genetic causes of rare, undiagnosed disorders by using genome sequencing. Researchers will analyze the DNA of up to 2,000 participants, including affected individuals and their family members. The goal is to discover new disease-causing genes and i…

This study looks at how people with Down syndrome and Fragile X syndrome decide who to trust. Researchers will use eye-tracking and behavioral tasks to measure how participants read faces, behaviors, and detect deception. The goal is to understand the brain mechanisms behind trus…

This study compares brain responses to heat, cold, brushing, and mild electric shocks in people with and without intellectual disability. Researchers use brain scans and heart rate monitors to measure pain. The goal is to better understand how pain is felt in this group, especial…

This international online study collects medical, behavioral, and developmental information from people with rare genetic changes that are linked to autism and other neurodevelopmental disorders. By partnering with families, researchers aim to build a detailed database to improve…

This study from the National Human Genome Research Institute aims to better understand Congenital Disorders of Glycosylation (CDG), a group of rare genetic conditions that affect how the body attaches sugars to proteins and fats. Researchers will examine up to 200 participants, i…

This study creates a large registry of people with Rett syndrome, a rare genetic disorder that causes severe intellectual and physical disabilities. Researchers will collect information from doctors and caregivers to understand how the disease progresses over time. The goal is to…

This observational study follows 150 people with MEHMO syndrome or related conditions to better understand how the disease progresses. Researchers will collect medical history, imaging, and lab samples to find biological markers that could help monitor the disease. No treatment i…

This study looks at bladder and bowel problems in children aged 5 to 12 with intellectual disabilities and compares them to typically developing children. Researchers want to understand how these issues affect the child's daily activities and family quality of life. The goal is t…

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 pilot study will screen 150 homeless adults in French shelters for autism, ADHD, and intellectual disability using interviews and questionnaires. The goal is to find out how many have these conditions, which may have contributed to their homelessness. Results could help tail…

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 who have changes in a gene called FOXP1, which can cause developmental delays, speech problems, and autism-like traits. Researchers will use interviews, play-based assessments, and genetic tests to better understand these conditions. The goal is to lear…

This study tests whether analyzing RNA from blood and skin samples can find hidden genetic causes in people with rare diseases like intellectual disability. Researchers will compare results from both tissues to see which works best. The goal is to reduce the years of uncertainty …

This study looks at how technology, like LEGO robots, can help children with physical disabilities play. Researchers will ask parents and kids about what helps or hinders play, then let children play with robots or conventional toys. The goal is to create a complete model of play…

This study aims to develop and test a simple scale that caregivers can use to detect common eye disorders in adults with intellectual disability. Researchers will collect data from 1,400 participants, including socioeconomic information, daily living skills, and eye exam results.…

This study looks at whether a special version of multisystemic therapy (MST-ID) works better than standard therapy for teenagers (ages 10-19) with severe behavioral problems who come from families with intellectual disabilities. About 470 teens and their families will take part, …

This study looks at how adults with intellectual developmental disorder (IDD) understand emotions, compared to people without IDD. Researchers will test 60 adults using tasks that involve recognizing facial expressions, emotions in context, and vocal tones. The goal is to find sp…

This study uses magnetoencephalography (MEG), a non-invasive brain scan, to compare brain signals in 1,500 children with neurodevelopmental disorders (like epilepsy, autism, ADHD) and healthy children. The goal is to improve diagnosis and understanding of these conditions. No tre…

This study aims to build a database of genetic information from 1,000 people with intellectual disabilities or autism spectrum disorders of known genetic cause. Families will answer online questionnaires to share clinical details, helping researchers understand how different gene…

This study tracks children and adults with genetic developmental and epileptic encephalopathy (DEE) over time. It does not test any treatment but collects information on development, seizures, and quality of life through in-person visits, virtual visits, or online surveys. The go…

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…

This study looks at whether using a preferred communication method (like a touch talker or picture cards) helps people with intellectual or developmental disabilities maintain positive behavior changes and avoid relapse. Researchers will compare two groups: one starting with a pr…

This study is observing 600 people of any age with STXBP1 or SYNGAP1 gene mutations to better understand how these disorders affect development, seizures, and quality of life. No treatment is given; instead, researchers will collect data from routine clinical assessments over tim…

This study follows 1,000 people who have certain genetic changes (hnRNP and others) that may cause developmental delays, autism, seizures, or muscle problems. Researchers collect medical records, school reports, and questionnaires to see how these gene variants affect behavior, t…

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 looks at whether bright light therapy can help reduce depressive symptoms in adults with intellectual disabilities. Researchers will see how acceptable and practical this treatment is in two care organizations. About 105 participants, including staff and patients, will…

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…