Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

What this Trial Is About

Researchers are studying the natural history and progression of rare neurodegenerative disorders including GM1 and GM2 gangliosidosis, sialidosis, and galactosialidosis. These diseases primarily affect the brain and central nervous system and are often fatal or severely disabling. The goal is to understand disease progression, develop tools to monitor it, identify biological markers linked to severity, and learn more about the underlying mechanisms of neurodegeneration in these lysosomal storage and glycoprotein disorders. Participants with enzyme or DNA confirmed diagnoses may undergo evaluations every six months for infantile onset, yearly for juvenile onset, and about every two years for adult-onset disease if clinically stable for travel. Assessments include medical imaging such as MRI/MRS, hearing and neurological tests, sleep studies, cardiac and abdominal ultrasounds, and specialty evaluations in fields like rehabilitative medicine, ophthalmology, speech, neurology, and psychology. Biological samples including blood, cerebrospinal fluid, urine, and skin fibroblast cultures are collected to study biomarkers and test potential therapies. Participants may be asked to complete questionnaires about their medical and developmental history and provide head circumference measurements. Data are collected both cross-sectionally and over time, with the aim to correlate clinical findings and biomarkers with disease stages. This observational study monitors outcomes regularly to explore the natural history of these diseases, supporting future clinical trials. Participation can last many years with evaluations adapted to disease stability and onset age.

Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders