Radhika Dhamija, M.B.B.S.

Closed for Enrollment

• Prospective Longitudinal Study of Neurological Disease Trajectory in Children Living with Late-Infantile or Juvenile Onset of GM1 or GM2 Gangliosidoses (PRONTO) Rochester, Minn.

  The objectives of this study are to prospectively characterize the progression of neurological domains of major interest (gait abnormalities, difficulties with balance, and speech difficulties) through disease-specific adaptation of available generic neurological rating tools that will be used as therapeutic outcome measures for emerging therapies, to produce well characterized natural history cohorts of patients with GM1 and GM2 gangliosidoses to serve as external controls for new experimental therapy trials, and to develop a disease progression model able to identify clusters of disease progression and predict disease trajectory.

• The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) (GLIA-CTN) Rochester, Minn.

  The purpose of this study is to define novel homogeneous groups of patients with unclassified leukodystrophy and work toward finding the cause of these disorders, establish disease mechanisms in selected known leukodystrophies, track current care and natural history of these patients to define the longitudinal course and determinants of outcomes in these disorders, and to inform subjects of future research and/or clinical programs that may be of benefit based on their individual diagnoses or lack thereof.

• US Selumetinib Registry Rochester, Minn. The purpose of this study is to understand treatment patterns and assess long-term effectiveness and safety outcomes associated with selumetinib treatment as well as to explore clinical and non-clinical factors affecting those outcomes in participants with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PNs) who were aged 2 to 18 years at the time selumetinib was started in a real-world setting.
• Whole Exome Sequencing for Diagnostic Odyssey Cases Evaluated at the Individualized Medicine Clinic Rochester, Minn., Scottsdale/Phoenix, Ariz.

  The purpose of this study is to test a new set of technologies called Next Generation Sequencing (NGS) that may help identify possible genetic reasons for your medical condition. NGS is a procedure that looks at all of your genes (the genetic material you have inherited from your parents) in different ways. Right now, clinical NGS is only done in outside clinical labs. In this study, Mayo Clinic is developing procedures to perform and interpret NGS in its own clinical labs. We also want to store samples and genetic information for future research.