Cockayne Syndrome

Researchers are conducting a single-center, single-arm, non-interventional natural history study to observe the progression and clinical features of DNA repair disorders, including Cockayne syndrome, xeroderma pigmentosum, and trichothiodystrophy. The study aims to establish a reliable baseline course of these disorders, using the Early Childhood Assessment of Balance (ECAB) as the primary measurement and other functional and exploratory tests to support future therapeutic trials. Participants diagnosed with DNA repair disorders will undergo regular assessments including interval health history reviews, physical and neurological examinations by a neurologist, ECAB balance assessments, gait evaluations, and collection of blood and saliva samples. These assessments will be conducted over a three-year period to monitor changes in motor and neurological functions. Family members without the disorder will serve as control participants with fewer assessments. During the study, participants will be evaluated on motor function stability using tests like gait speed, the 10-meter walk/run, Timed Up and Go (TUG), and Dynamic Gait Index (DGI). Health status, cognitive and motor changes, and balance will be closely monitored. Blood and saliva samples will be collected with volume limits to support biomarker research. The total duration of involvement is approximately three years, with no intervention or treatment provided.

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 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.