HNRNPU Related Disorder

Researchers are studying Amyotrophic Lateral Sclerosis Type 4 (ALS4), an inherited motor neuron disease caused by mutations in the senataxin (SETX) gene, along with other inherited neurological disorders involving RNA processing defects and gain of function mutations. The goal is to understand how RNA-DNA binding units called R-loops relate to disease progression and to identify clinical and molecular biomarkers. These biomarkers may help evaluate future treatments for ALS4 and similar neurological diseases. Participants in this observational study include those with ALS4, other RNA metabolism disorders, gain of function mutations, and healthy control groups. The study involves annual visits over 3 years for ALS4 and disease control participants, and up to 5 years for the gain of function group, with one visit for healthy controls. Evaluations include medical history, physical exams, muscle strength tests, blood tests, skin biopsies, MRI scans, and DEXA scans to measure muscle and body composition. During the study, participants will undergo various assessments such as neuromuscular ultrasound, functional tests like the 6-minute walk, and questionnaires about health and function. Researchers will monitor disease progression using thigh muscle volume and other measures annually. Some tests are optional, and safety monitoring includes pregnancy tests when applicable. Total involvement varies by group, with up to 4 visits over 3 years or up to 11 visits over 5 years, depending on the cohort.

Researchers are studying individuals with rare genetic changes linked to neurodevelopmental disorders and features of autism through an international, observational research program called Simons Searchlight. This program aims to gather detailed medical, behavioral, learning, and developmental information to enhance clinical care and treatment for people with these genetic differences. The study is supported by the Simons Foundation, which focuses on finding science-based solutions to improve lives. Participants join remotely via an online platform or phone, allowing English and Spanish-speaking families worldwide to take part at convenient times. They may provide blood or saliva samples, which are connected to their health and developmental data for research purposes. The collected information is anonymized and shared with qualified scientists globally to advance understanding of specific gene changes. During the study, baseline data is collected over about one month, with ongoing follow-up data gathered regularly to track changes over time. Participants provide comprehensive information about their medical, behavioral, learning, and developmental status. The study does not involve treatment but focuses on detailed data collection to support research. Participation can continue long-term, helping researchers monitor and learn from these rare genetic variants.

Researchers are collecting and analyzing clinical information and biological samples from people worldwide who have leukodystrophies, a group of genetic white matter brain disorders. The study aims to improve understanding of these diseases, find new genetic causes, develop biomarkers, and track the natural history of leukodystrophies to support future research and treatment development. This project is one of the largest biorepositories for leukodystrophy patients, with nearly 2,000 participants enrolled over more than ten years. Participants include individuals with suspected or confirmed leukodystrophies or related genetic white matter disorders, as well as healthy controls. The study involves collecting clinical data, standardized assessments, and biological samples to achieve multiple goals, such as defining new patient groups, evaluating next-generation genetic testing, understanding disease mechanisms, and following patients' care and outcomes over time. Consent and assent are required for participation, and participants may be contacted for future studies. During the study, researchers gather clinical information, imaging data, and biological samples to track disease progression and care over a period of up to ten years from enrollment. The main outcome is to identify new homogeneous patient groups with unclassified leukodystrophies. Secondary outcomes include evaluating genetic testing methods, understanding disease biology, and maintaining contact with participants for ongoing research. Participation involves providing data and samples and completing assessments to help advance diagnosis and treatment for leukodystrophy patients globally.