We are conducting this study to understand the history of AHS, a rare genetic disorder that is characterized by seizures, liver dysfunction and progressive developmental regression that leads to early death. Through this study we will determine if there are connections between a patient’s medical history and onset of AHS as well as the relationship between signs and symptoms of presentation of AHS and severity and survival of AHS.
Children born with this disorder will appear heathy at birth and usually develop normally until the onset of their illness. Most patients with AHS will show symptoms of this illness between 2-4 years of age and a smaller group of patients show symptoms for between 17-24 years of age.
For more information on the Alpers-HuttenLocher Syndrome, visit:
https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome#diagnosis
For complete study information, visit: https://clinicaltrials.gov/ct2/show/NCT03034512?term=alpers-huttenlocher&rank=1
Patient does not have confirmed AHS and is not the sibling of a patient with confirmed AHS
Patient is not willing to participate in the NAMDC clinical Registry
National Institute of Health (NIH)
Chair, NeuroDevelopmental Science Center; Philip H. Maynard Chair in NeuroDevelopmental Science Fund; Chairman, American Academy of Neurology Advocacy Committee; Pediatric Neurologist
Pediatric Brain Tumor ProgramPediatric NeurologyMitochondrial Center