Rubinstein-Taybi Syndrome

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 evaluating an inclusive physical activity program called PACE for adults with intellectual disability ID who do not show signs of Alzheimers Disease or related dementias. This randomized controlled trial includes 120 adults with ID, their caregivers, and coaches, aiming to study the effects of physical activity on health and wellbeing in this population. The study is sponsored by the University of North Carolina, Chapel Hill. The study involves a 16-week intervention with weekly group fitness classes led by certified Inclusive Fitness Specialists. Participants in the intervention group will also use a web-based dashboard, attend weekly coaching meetings, and have access to web-based training for coaches and exercise professionals. Those in the waitlist control group will receive the PACE program after the initial 16-week period. The program is designed to encourage moderate-to-vigorous physical activity and community empowerment. Participants undergo screening and baseline assessments including cognitive testing, dementia screening, and physical activity monitoring with an Actigraph device worn for a week. Assessments include body composition scans, quality of life questionnaires, daily living skills, mental and cognitive functioning, emotional health, and physical fitness tests. Follow-up visits occur post-intervention and at 12 months to evaluate changes. The primary outcomes are steps per day and minutes of moderate-to-vigorous activity measured by the Actigraph at baseline and after 16 weeks.

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.

Researchers are investigating rare developmental disorders linked to mutations in the RNU4ATAC and RTTN genes. These disorders include Taybi-Linder Syndrome, Roifman Syndrome, Lowry-Wood Syndrome, and Microcephalic Osteodysplastic Primordial Dwarfism Types I and III. These conditions cause growth delays before and after birth, small head size, skeletal problems, intellectual disability, retinal issues, and immune system deficiencies. The study aims to understand how defects in minor RNA splicing caused by these gene mutations affect cell functions and contribute to these syndromes. The study involves collecting biological samples such as blood and skin biopsies from patients with bi-allelic mutations in RNU4ATAC or RTTN, their parents with mono-allelic mutations, and fetuses with these mutations after miscarriage or medical abortion. These samples will help create induced pluripotent stem cell lines and analyze gene expression, RNA splicing, cell functions, and tissue structure. The study does not involve drug treatments but focuses on laboratory and cellular analyses. Participants will provide blood and possibly skin samples, while parents of fetuses with mutations may consent to tissue biopsies after pregnancy termination. Researchers will study the cellular consequences of RNU4ATAC mutations over five years, including minor splicing anomalies and neuronal differentiation issues. The research includes transcriptomic, biochemical, and cellular assessments to better understand the diseases mechanisms and does not involve randomization or blinding.