View clinical trials related to Lafora Disease.
Filter by:Only qualified physicians treating a Lafora Disease patient may request VAL-1221 Expanded Access treatment under the Parasail Lafora Expanded Access Protocol (LEAP). According to FDA guidance, this protocol can enroll up to 10 patients. However, individual patient inclusion will ultimately be dependent on protocol eligibility, site geography, treatment requirements, and available supply of the investigational therapy. Inquiring physicians can submit a request by contacting the Central Contact personnel listed below in Contacts/Locations.
A natural history and functional status study to characterize the clinical disease course in Lafora disease patients using standardized, quantitative evaluations and to identify useful biomarkers and clinical outcome measures for use in future Lafora treatment studies.
This study will examine the effect of a restricted-carbohydrate diet (ketogenic diet) on Lafora disease-a severe neurological disease in which brain cells die because of abnormal accumulation of glucose (a type of sugar). Patients with Lafora disease have rapid neurological deterioration with myoclonus (brief muscle jerks), seizures and mental decline. At present there is no treatment to halt disease progression. Patients 10 years of age and older with relatively advanced Lafora disease may be eligible for this study. Participants will be admitted to the Clinical Center for the first 4 weeks of this 6-month study for baseline testing and to start the ketogenic diet. They will have a complete medical history and physical examination, plus a detailed neurological examination and blood and urine tests. Procedures include: - Magnetic resonance imaging (MRI) brain scans to provide information about brain chemistry - Lumbar puncture (spinal tap) to analyze chemicals in cerebrospinal fluid - Metabolic and endocrinological tests, including a glucose tolerance test, to evaluate the body's response to a large intake of oral glucose - Standard neuropsychological tests - Magnetic resonance spectroscopy of the brain and muscle - Electroencephalography (EEG) to measure brain wave activity - Electromyography (EMG) to measure muscle activity - Evoked potentials (SEP and VEP) to study brain responses to mild electric or visual stimulation. Transcranial magnetic stimulation (magnetic stimulation of the brain) may also be done to study the function of the brain cortex (outer nervous tissue of the brain) and the effects of treatment on brain excitability. The ketogenic diet will begin after the tests are completed. The diet provides mainly fats to fuel the body, plus the recommended amount of protein and minimum carbohydrate. Vitamin and mineral supplements are provided to meet daily requirements. After 2 weeks on the diet, the patient will be discharged from the hospital and seen daily as an outpatient for another 1 to 2 weeks. During this time the patient or caregiver is trained in preparing the ketogenic diet, and then the patient is discharged to home. Throughout the study, disease symptoms will be assessed using standardized rating scales. Blood and urine tests will be done as needed, as will follow-up brain imaging, neuropsychological and neurophysiological evaluations. A skin and/or muscle biopsy may be done at the first clinic visit to grow skin cells in culture and to analyze the skin and muscle under a microscope. The biopsy area is numbed with an anesthetic and a small piece of tissue is removed either with a needle, an instrument similar to a cookie-cutter or a knife. The skin cells may be used for metabolic studies and to obtain DNA for genetic testing. At the end of the study, patients who responded well to the treatment with no significant adverse side effects may continue the diet for another 12 months. They will be followed at 3-month intervals to monitor side effects and treatment response.