Pediatric Neurology

Alpers Huttenlocher Natural History Study (Alpers)

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

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

For complete information, please view the study on clinicaltrials.gov

Single vs. Multiple Privigen Dose Regimens in Pediatric CIDP

See complete study information on clinicaltrials.gov.

Safety and efficacy of ASP0367 in patients with primary mitochondrial myopathy

See complete study details here.

Safety and efficacy of Rimegepant for the treatment of migraine in pediatric patients ≥6 to <18 years of age

View complete study information here.

Safety and Efficacy of REN001 in patients with Primary Mitochondrial Myopathy

Please view complete study details here.

Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy

For complete information, please visit the study on Clinicaltrials.gov