Dr. Albert La Spada runs the world’s leading research laboratory for the study and treatment of SCA-7. Despite its rarity, Dr. La Spada works with patients all over the world. He has been studying this neuro-degenerative disease for over 25 years and is about 2 years away (partnering with IONIS Laboratories) from launching a testable treatment procedure. Dr. La Spada currently works out of University of California, Irvine and can be reached at firstname.lastname@example.org.
Genetic and Rare Disease Information Center (GARD)
National Institute of Health (NIH)
Treatment of manifestations: Multidisciplinary care involves supportive treatment of: neurologic manifestations – physical and occupational therapy to help maintain mobility and function, and pharmacologic treatment to reduce symptoms; dysarthria – speech and language therapy and alternative communication methods; dysphagia – feeding therapy to improve nutrition and reduce the risk of aspiration; and reduced vision – use of low vision aids and consultation with agencies for the visually impaired.
Surveillance: Routine follow up with multidisciplinary care providers.
Agents/circumstances to avoid: Avoid: alcohol intake (especially if excessive) as it can further impair cerebellar function; foods identified by a registered dietitian as possible causes of dizziness or disorientation.
Therapies under investigation: Several ongoing clinical trials for medications used as treatment for ataxia.
In this natural history study, participants will be followed for at least five years. Because three years may be required to enroll 25 participants, this study will last up to eight years. All participants will undergo a standardized medical/ophthalmic history and a complete baseline eye examination, including non-invasive electrophysiology (e.g., electroretinography), psychophysiology (e.g., microperimetry, static perimetry), and diagnostic imaging examinations (e.g., optical coherence tomography). In addition, participants will undergo a detailed neurology exam, neuroimaging (MRI, including special sequences) and consult with speech pathology and/or other rehabilitation services, audiology, and neuropsychology.