Lafora Disease Clinical Trial
Official title:
A Trial of Ketogenic Diet in Lafora Disease
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.
The objective of this study is to evaluate the acute effect and potential disease modifying effects of a restrictive minimum carbohydrate diet (ketogenic diet) in patients with Lafora Disease. Untreated Lafora Disease is rapidly progressive to death over about 10 years. In an open label, proof-of-principle clinical trial, the efficacy of the ketogenic diet will be assessed through the use of validated clinical scales, as well as surrogate neurophysiological and biochemical measures. Safety will be monitored by means of frequent clinical evaluations and laboratory tests. ;
N/A
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Completed |
NCT03876522 -
Natural History and Functional Status Study of Patients With Lafora Disease
|
||
| Available |
NCT05930223 -
Intravenous VAL-1221 Lafora Expanded Access Protocol
|