Rett Syndrome is a rare genetic disorder usually caused by mutations in the gene Methyl-CpG-binding Protein 2 (MECP2) that is located on the X chromosome. Rett Syndrome occurs almost exclusively in females, since the gene that most often causes it is located on the X chromosome, and is thought to affect 1 in 10,000 girls. Males who inherit this genetic change often do not survive pregnancy.
Girls who carry the mutation often have slightly delayed, or seemingly normal development until 6-18 months of life when loss of developmental milestones may occur. In many cases purposeful hand use and language can be lost. The disease often continues to slowly progress over time and in time the ability to walk may be lost. Seizures, scoliosis, constipation, and breathing pattern abnormalities are also frequently seen.
Gillette Children’s Specialty Healthcare developed a Rett Clinic in 2005. Over time we have collaborated with researchers locally to investigate ways to further learn about Rett Syndrome while providing expert care for patients with Rett Syndrome. To date, there has been no treatment discovered that cures Rett Syndrome. Given our work with this unique population, the Gillette Rett Clinic was approached by Neuren Pharmaceuticals to participate in a trial of new drug (currently called NNZ-2566) being developed to promote brain development.
The Neuren guided experiment involved use of varying doses of the NNZ-2566 compound in addition to the use of a placebo group who received no active treatment. This trial looked at parental observations of their child’s behavior and seizures while on treatment in addition to physician graded observation scales, EEG, EKG, and laboratory data. Improvement in functioning with no significant side effect burden was seen. Click here to read the initial announcement by Neuren Pharmaceuticals. The full details of the study will soon be released, but generally speaking improvement was seen in motor function, symptom burden, and in regard to parent specific concerns.
The hope for our clinic at Gillette is that we can continue to collaborate in such activities that will attack the root cause of Rett Syndrome in addition to managing symptoms. This study provides the first evidence of a treatment that might do just that. We hope in time to manage the course of disease and prevent progression / regression while fostering optimal development for all those afflicted by Rett Syndrome.