Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

Launched by NATIONAL HUMAN GENOME RESEARCH INSTITUTE (NHGRI) · Jan 26, 2002

Keywords

ClinConnect Summary

This clinical trial is focused on understanding how certain rare genetic disorders, specifically GM1 and GM2 gangliosidosis, sialidosis, and galactosialidosis, affect the brain and nervous system over time. Researchers aim to learn more about the natural progression of these diseases, which can cause neurological issues like regression, myoclonus (sudden muscle jerks), and brain atrophy. By evaluating patients regularly—every six months for infants, yearly for children, and every two years for adults—researchers will gather important information that could help in future treatments. They will also look for specific markers in blood and other fluids that may indicate how severe the disease is and how it is progressing.

To be eligible for this study, participants need to be at least six months old and have a confirmed diagnosis of one of these disorders through enzyme testing or genetic analysis. There are no restrictions based on age, gender, or where the patient lives, as long as they are medically stable enough to travel to the NIH for evaluations. The study is currently recruiting participants, and those who join can expect regular check-ups and the opportunity to contribute valuable information that may benefit others with similar conditions in the future.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• • Individuals greater than 6 months of age with GM1 or GM2 gangliosidosis documented by enzyme deficiency and/or mutation analysis in a CLIA-approved laboratory
• EXCLUSION CRITERIA:
• • Individuals who in the opinion of the principal investigator are too medically fragile to travel safely to the NIH for evaluation
• • Individuals unable to comply with the protocol