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Alpers Huttenlocher Natural History Study

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:

For complete study information, visit:

Who May Qualify?:
  • All individuals of any age with confirmed Alpers Huttenlocher Syndrome (AHS) or siblings of confirmed AHS patients are eligible to participate. AHS requires the presence of polymerase gamma 1 (POLG) pathological mutations, either homozygous or compound heterozygote mutations, and the presence of epilepsy and either, developmental regression or hepatopathy. If POLG mutations are not demonstrated, AHS requires the presence of refractory seizures, developmental regression, and hepatopathy as well as two or more other clinical and laboratory findings including elevated cerebrospinal fluid (CSF) protein, neuroimaging showing lactate peaks, reduced N-acetyl aspartate with hyperintensities on T2/FLAIR in the thalamus and posterior head regions, optic atrophy/cortical blindness, quantitative mtDNA reduction (>30% ) in muscle and/or liver, non-specific electron transport chain (ETC) enzyme deficiencies.
  • All patients must agree to participate in the North American Mitochondrial Disease Consortium (NAMDC) Clinical Registry
Who Does Not Qualify:
  • 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

Interested in participating?
We are currently recruiting
Study Sponsor:

National Institute of Health (NIH)

Full IRB Study Title:
Alpers Huttenlocher Natural History Study (Alpers)
IRB Study ID:
If you are interested in this study or have questions about your child's eligibility, please contact:
Rebecca D. Considine Research Institute, 330-543-3193 or email
Lead Investigator
Bruce H. Cohen, MD, FAAN

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

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