KDM5B-related Syndrome

Researchers are evaluating the effects of methylphenidate on attention deficit and ADHD-related symptoms in children and adolescents with KBG syndrome, a neurodevelopmental disorder marked by developmental delays, intellectual disability, distinctive facial features, and behavioral issues. This trial aims to determine how methylphenidate impacts ADHD-like symptoms in this population, addressing an unmet need for evidence-based treatments. The study also explores the effectiveness in patients who show ADHD symptoms but may not meet full diagnostic criteria. Participants will receive multiple treatment blocks alternating between methylphenidate capsules and placebo capsules in a randomized, crossover design. The study uses a quadruple masking approach to compare the effects of the active drug versus placebo. Treatment and placebo periods occur over several weeks, with repeated assessments during weeks 1, 3, 5, 7, 9, and 11. During the trial, participants and their caregivers will complete various questionnaires and rating scales daily and at specific weeks to monitor ADHD symptoms, emotional problems, adverse effects, and family functioning. Assessments include the Strengths and Difficulties Questionnaire, Emotion Dysregulation Inventory, Goal Attainment Scoring, Personal Questionnaire, and the Autism Diagnostic Observation Scale. The study monitors safety and treatment effects over approximately 11 weeks, with data collected to evaluate daily changes and overall outcomes.

Researchers are conducting an international observational study called Simons Searchlight to learn more about families affected by rare genetic changes linked to neurodevelopmental disorders and features of autism. The study aims to improve clinical care and treatments by collecting detailed medical, behavioral, learning, and developmental information from people with these genetic variants. Participation is available to English and Spanish-speaking families worldwide, supporting remote involvement. Participants provide medical and developmental data through online or phone-based formats and may donate blood or saliva samples for genetic analysis. These samples are connected with the collected data to better understand how specific gene changes impact individuals. Personal identifying information is removed to protect privacy, and qualified researchers worldwide can access the anonymized data. During the study, participants share baseline information over about one month, with ongoing data collection occurring regularly to track changes over time. This includes medical histories, behavioral assessments, and developmental progress. The study is designed to gather comprehensive, long-term information to support research into targeted treatments and improved care for individuals with genetic and developmental differences.

Researchers are conducting a patient registry and natural history study called Coordination of Rare Diseases at Sanford CoRDS to support research on rare diseases. CoRDS is an international registry that connects patients with rare, undiagnosed, or uncommon diseases to researchers studying over 7,000 rare diseases. This program aims to help advance treatments and cures by facilitating easy collaboration between patients, advocacy groups, and researchers. It is based at Sanford Research in Sioux Falls, South Dakota, and is free for patients to join and for researchers to access. Participants provide contact, sociodemographic, and health information, which is entered into CoRDS and linked to a unique coded identifier. Examples of collected data include name, mailing address, phone number, email, date and place of birth, sex, gender, ethnicity, family history, and diagnosis-related information. De-identified information may be shared with approved researchers after review by an Institutional Review Board and expert panel. Some data may also be shared with other databases and patient advocacy groups, with protections to prevent misuse for research purposes. Participants are contacted yearly to confirm continued participation and to update their information. If a parent or legal guardian consents for a minor, the participant will be contacted at age 18 to provide their own consent. The primary goal is to accelerate research by connecting individuals interested in rare disease research with scientists over a long period of up to 100 years. There is no treatment given, as this is an observational registry study.