Mendelian neurodevelopmental disorder

This early study tests the safety of TheraSphere PCa, tiny radioactive glass beads injected into the prostate to treat localized prostate cancer. The trial involves 36 men with favorable intermediate-risk cancer and aims to find the maximum safe radiation dose. Researchers will m…

This study follows about 200 people with Prader-Willi syndrome who are taking or starting VYKAT XR. Researchers will track side effects and how the drug affects their health over time. The goal is to gather more safety information, not to test if the drug cures the condition.

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 study tests an experimental drug called LP352 to see if it can safely reduce seizures in children and adults with developmental and epileptic encephalopathies (DEE), a group of severe epilepsy syndromes. About 320 participants will receive either LP352 or a placebo, and rese…

This phase 3 study is testing the long-term safety and effectiveness of LP352 (Bexicaserin) in 324 children and adults with developmental and epileptic encephalopathy (DEE), including Dravet and Lennox-Gastaut syndromes. Participants who completed earlier studies will receive LP3…

This phase 3 trial is testing the safety and tolerability of fenfluramine (Fintepla) in 25 infants aged 1 to 2 years with Dravet syndrome, a severe form of epilepsy. The drug is given as an oral solution twice daily alongside other seizure medications. Researchers will monitor he…

This study tests an investigational drug called relutrigine in 160 children with a severe form of epilepsy called developmental and epileptic encephalopathy (DEE). The goal is to see if the drug can safely reduce monthly seizure frequency compared to a placebo. After the initial …

This trial is testing an experimental drug called PRAX-222 in children aged 2 to 18 who have a rare, severe form of epilepsy caused by changes in the SCN2A gene. The goal is to see if the drug is safe and can reduce how often seizures happen. Participants will receive either PRAX…

This early-stage trial tests a new gene therapy called FRF-001 for FOXG1 syndrome, a rare genetic disorder that affects brain development. The therapy is given as a single injection into the brain's fluid spaces. The study will include 12 children and adults and will check for sa…

This early-stage trial is testing a new drug called IDE161, alone or with the immunotherapy pembrolizumab, in adults with advanced solid tumors (like breast, ovarian, prostate, or lung cancer). The main goals are to check safety, find the right dose, and get a first look at wheth…

This study tests a program called PIXI that coaches parents of infants diagnosed with rare neurogenetic disorders (such as Fragile X, Angelman, or Down syndrome) during the first year of life. The program combines education about the disorder, guided parent-child interaction acti…

This study tests a one-time gene therapy called TSHA-102 in females aged 6 to under 22 with classic Rett syndrome. The goal is to see if it is safe and can help them regain or gain new developmental skills like walking or talking. Participants receive the therapy through a spinal…

This phase 3 trial tests whether the drug troriluzole can slow the progression of spinocerebellar ataxia, a rare genetic disorder that affects coordination and balance. About 300 adults with different types of SCA are randomly assigned to take either troriluzole or a placebo dail…

This study tests a gene therapy called NGN-401 in 33 girls with Rett syndrome, a rare genetic disorder that affects development and movement. The therapy delivers a working copy of the MECP2 gene to try to improve skills and daily function. Researchers will measure success by whe…

This phase 2 trial tests whether lamivudine, an antiviral drug, can improve symptoms in people with Rett syndrome, a rare genetic disorder that affects movement, communication, and behavior. Ten participants will take the drug by mouth for a set period, and researchers will measu…

This study looks at whether the drug troriluzole can slow the progression of spinocerebellar ataxia (SCA), a rare genetic disease that affects movement and balance. Researchers will compare 909 patients who took troriluzole for up to three years with similar patients who did not …

This early-stage study tests a gene therapy called ETX101 in 5 children with Dravet syndrome, a severe form of epilepsy. The therapy delivers a gene that helps calm overactive brain cells. Researchers will check if it safely reduces seizure frequency and improves thinking and dai…

This study follows about 111 people with Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex who are taking Epidyolex (a CBD oral solution) for seizures. Researchers track how many stay on the drug for a year and how many seizure-free days they have. It's an o…

This early-phase trial tests a single injection of AAV-MECP2 gene therapy into the spinal fluid of 8 girls aged 4-10 with Rett syndrome, a severe neurodevelopmental disorder. The goal is to see if the treatment is safe and can reduce disease severity. The study is not yet recruit…

This Phase 3 study tests whether fenfluramine (ZX008) can safely reduce seizures in 87 children and adults with CDKL5 deficiency disorder, a rare genetic condition causing severe epilepsy. Participants receive either the drug or a placebo, followed by an open-label extension wher…

This study offers fenfluramine to people with Dravet syndrome whose seizures have not improved with other medications. The goal is to provide access to the drug and monitor its safety. Participants must have a genetic diagnosis of Dravet syndrome and have tried all available seiz…

This pilot study tests whether deep brain stimulation (DBS) of specific brain pathways can safely reduce seizures in people with Lennox-Gastaut syndrome, a severe form of epilepsy. Five participants receive the electrical stimulation as an add-on to their usual treatment. The goa…

This phase 3 trial is testing the safety of pitolisant in 150 people with Prader-Willi syndrome who have already taken the drug in a previous study. Participants will receive pitolisant tablets and be monitored for side effects. The goal is to see if pitolisant is safe for long-t…

This phase 2 trial tests the drug tiratricol (Triac) in 22 young boys (up to 30 months old) with MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome. The goal is to see if the drug can improve brain development and reduce harmful thyroid effects in the body. Participants…

This phase 2 trial tests setmelanotide (Imcivree), a daily injection, in 18 people aged 6 to 65 with Prader-Willi syndrome who have obesity. The study will check if the drug is safe and helps reduce body weight and hunger over 52 weeks.

This study looks at the long-term safety of an experimental drug called zorevunersen (STK-001) in 60 people with Dravet syndrome, a severe form of epilepsy. Participants must have completed an earlier STK-001 study. Researchers will monitor side effects, seizure frequency, and qu…

This study tests a new medicine called PRAX-562 in 77 children with rare genetic epilepsies (SCN2A or SCN8A). The goal is to see if it safely reduces motor seizures. The trial has two parts: a double-blind phase where some children get the drug and some get a placebo, followed by…

This program provides expanded access to the drug stiripentol for people aged 6 months and older with Dravet syndrome, a severe form of epilepsy. The goal is to help control seizures that do not respond to other treatments. Participants must have a confirmed diagnosis and meet sa…

This early-phase trial is testing whether glycerol phenylbutyrate (Ravicti), a drug already approved for a different condition, is safe and tolerable for children with genetic disorders like STXBP1 and SLC6A1 that cause seizures and developmental delays. The study will enroll 50 …

This study tests a brain-responsive neurostimulation system in 24 people aged 12 and older with Lennox-Gastaut syndrome whose seizures are not controlled by medication. The device detects and responds to seizure activity in the brain to reduce drop seizures. The goal is to see if…

This study tests a gene therapy called ETX101 in 4 children with Dravet syndrome, a severe seizure disorder caused by a gene change. The therapy uses a harmless virus to deliver a working copy of the gene to brain cells. The main goals are to see if it is safe and if it reduces s…

This study tests a new gene therapy called TSHA-102 for girls aged 5 to 8 with Rett syndrome, a severe genetic disorder that affects brain development. The therapy is given as a single injection into the spinal fluid. The main goal is to check safety and side effects, while also …

This study tests a custom-made drug called an antisense oligonucleotide (ASO) designed specifically for one person with a rare genetic brain disorder (NEDBA) caused by a MAPK8IP3 mutation. The goal is to see if the drug can improve motor skills and reduce seizures over 12 to 24 m…

This program provides continued access to the seizure medication perampanel (Fycompa) for people who completed certain earlier studies and are still benefiting from the drug. It runs until the drug is commercially available in their country or no participants remain. Only those a…

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

This pilot study explores whether robot-assisted walking devices can be used in schools to help children who cannot walk independently. The devices attach to a walker and power leg movements, allowing children to stand and walk upright. The study aims to identify the best ways to…

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 phase 3 study tests a device that gently stimulates the vagus nerve through the skin (tVNS) to see if it can safely reduce temper outbursts in people with Prader-Willi syndrome. About 102 participants aged 10 to 40 will use either continuous or intermittent stimulation. The …

This study tests whether personalized computer games can help people with Rett syndrome use their arms more purposefully and reduce repetitive hand movements. Fourteen participants will play games that reward them for separating their hands and reaching for targets. The training …

This study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …

This Phase 3 trial tests a nasal spray called carbetocin to reduce the intense, constant hunger (hyperphagia) in people with Prader-Willi syndrome. The study involves 170 participants aged 5 to 30 and lasts 12 weeks. Caregivers will rate changes in hunger-related behaviors using …

This study tests a robotic feeding device called Obi for people who cannot use their arms to eat on their own. About 50 participants, including patients, caregivers, and healthcare providers, will use the device at home or in care settings for one week. Afterward, they will fill …

This study tests whether wearable biosensors can accurately track symptoms like heart rate, breathing, sleep, and movement in people with Rett syndrome. Up to 30 participants will use the devices at home for 9 weeks and also undergo one overnight sleep study in the clinic. The go…

This study follows 154 people taking Epidiolex (cannabidiol) for seizures caused by Lennox-Gastaut syndrome, Dravet syndrome, or tuberous sclerosis complex. Researchers will monitor for signs of chronic liver injury and fibrosis over time using blood tests and liver scans. The go…

This observational study aims to measure how many people in Portugal have Dravet syndrome (DS) or Lennox-Gastaut syndrome (LGS), two rare and severe forms of epilepsy. Researchers will review existing medical records from about three public hospitals to estimate the percentage of…

This study looks at whether specific brain wave patterns on an EEG can predict how well the drug fenfluramine works for people with Lennox-Gastaut Syndrome (LGS), a severe form of epilepsy. Researchers will follow 20 children and adults aged 2 to 35 who are already taking fenflur…

This study follows children aged 6 to 21 who have a CNKSR2 gene mutation, which can cause epilepsy, language difficulties, and intellectual disability. Researchers will use brain scans, EEGs, and developmental tests to track how the condition changes over time. The goal is to cre…

This study is observing up to 198 people with rapid-onset dystonia-parkinsonism (RDP) or related genetic mutations. Researchers aim to identify affected individuals, document how common the disease is, and track its progression over time. Participants undergo assessments of sympt…

This study creates a registry for up to 500 people with CDKL5 Deficiency Disorder (CDD), a rare genetic condition that causes seizures and developmental delays. Patients and their caregivers will provide information about symptoms, treatments, and quality of life over several yea…

This study looks at whether treating obstructive sleep apnea (OSA) with a breathing device (CPAP) lowers blood pressure more in people who are very sleepy compared to those who are not. Researchers will analyze data from about 10,000 adults with OSA from previous studies. The goa…

This study looks at how repeated seizures affect breathing and heart function in people with Dravet syndrome, a severe form of epilepsy. Researchers will monitor 92 children and adults for 24-48 hours using video, brain wave, heart, and breathing recordings. The goal is to find c…