Ketogenic Diet in Lafora Disease

Inclusion Criteria

• •Males and females older than 10 years will be eligible for this study. Younger children may not be sufficiently cooperative.
• •Women of child-bearing age must be using adequate contraceptive method for at least one month prior to and during participation in the study.
• •All will carry the diagnosis of Lafora disease based on the presence of characteristic clinical history and neurological findings.
• •All will have a relatively advanced disease with at least one of the three cardinal neurological manifestations: myoclonus, epilepsy and cognitive decline.
• •All patients will have histological or (preferable) genetic confirmation of diagnosis.
• •All patients will also be on stable doses of concomitant medications for at least 2 weeks prior to the onset of the study.
• •Patients must not have the presence or history of any medical condition that can reasonably be expected to subject the patient to unwarranted risk.
• •Patients must have no clinically significant laboratory abnormality that can reasonably be expected to subject the patient to unwarranted risk.
• •Patients must not have contraindications to the use of ketogenic diet: carnitine deficiency, organic acidurias, defects in beta-oxidation, clinically significant nephrolithiasis, and those who are immunosuppressed .
• •Pregnant women will be excluded. Those not practicing effective means of birth control will be excluded since the influence of this investigational therapy on the unborn child and reproductive organs is unknown. Urine pregnancy test will be performed on women of childbearing age.
• •Forbidden medications:
• •No significant interactions are generally expected between therapy with ketogenic diet and other concomitant medications. However, those carbohydrate-containing drug preparations which may interfere with the achievement of persistent ketosis, will be avoided as possible. Moreover, in case of unexpected hospital visits requiring IV fluids, patients and their parents will be asked to advise the treating medical staff on the need to avoid the use of dextrose-containing solutions, to minimize risks of iatrogenic seizures.
• •Anticonvulsant medications, in general, do not negatively interact with the ketogenic diet, but concomitant use of drugs such as Topiramate (sometimes associated with nephrolithiasis) will be avoided as possible.
• •As mentioned earlier, doses of VPA, commonly used in patients with myoclonic epilepsy, will be decreased by 25%, as KD may significantly elevate serum plasma levels of VPA.