Experimental Treatments for AADC

Dopamine receptor agonists are compounds that bind to dopamine receptors in the brain, activating the receptors. In some conditions, they can compensate for a decrease in dopamine in the brain. While none have been approved specifically to treat AADC deficiency, this type of medication has been used off-label to ease symptoms of the disease. Dopamine receptor agonists include bromocriptine, rotigotine, and aripiprazole, among others.

Monoamine oxidase inhibitors (MAOIs) are a class of medications that inhibit MAO, the enzyme that breaks down serotonin and dopamine. They act to increase the amount of dopamine and serotonin in the brain. Even though MAOIs have not been approved to treat AADC deficiency, they have been prescribed off-label to treat some patients with the disease. MAOIs include Nardil (phenelzine), Emsam (selegiline), and Parnate (tranylcypromine).

Gene therapy is a promising approach for the potential treatment of AADC deficiency. Gene therapy aims to restore the function of a defective gene. This is usually done by delivering a functional copy of the gene to the cells that need the protein for which the gene encodes. Alternatively, gene therapy may intervene in the gene expression process, thereby correcting the problem that is caused by the mutation.