Treatment Resistant Epilepsy and N-Acetyl Cysteine

One third of patients with idiopathic autism have treatment resistant epilepsy, associated
with earlier onset of seizures. In addition to insufficient response to medical treatment,
they also have poorer responses to surgical and VNS approaches (Sansa et al 2011). Novel
approaches to reduce seizure burden and improve quality of life for the children and their
caregivers are needed.

There is a plethora of basic research documenting elevated oxidative stress in animal models
of seizures. Several animal models have decreased oxidative stress through using compounds
with antioxidant effects, but suprisingly, few human studies have been done to date.

This small open-label pilot study will examine the use of N-acetyl cysteine, an inexpensive
but readily available over-the-counter nutritional supplement, to reduce seizure frequency
in 10 youth with autism who have not responded completely to conventional anticonvulsant
therapy

Inclusion Criteria:

1. Children and adolescents/young adults ages 6-21, male or female, all races and
ethnicities.

2. Autism

3. IQ less than 80

4. 10 subjects with treatment resistant generalized epilepsy as defined by trials of 3
or more anticonvulsants with continued seizure frequency of at least 1 per week, need
to use a helmet, or vagal nerve stimulator placement.

5. Children with at least 1 grand mal/generalized seizure per week.

Exclusion Criteria:

1. Inability to swallow capsules

2. In females, pregnancy or sexual activity

3. Daily acetaminophen, glucocorticoid, or nonsteroidal anti-inflammatory drugs, or
daily NAC or high-dose antioxidant vitamin supplements within 30 days of baseline.

4. History of acute or chronic liver, renal, endocrine, infectious, autoimmune,
hematologic, metabolic, or other disorder in the judgement of the study physician.