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Alpers Huttenlocher Natural History Study (Alpers)

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ClinicalTrials.gov Identifier: NCT03034512
Recruitment Status : Terminated (Research focus has changed.)
First Posted : January 27, 2017
Last Update Posted : August 1, 2022
Seattle Children's Hospital
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michio Hirano, MD, Columbia University

Brief Summary:
This is a natural history study of Alpers Huttenlocher Syndrome. Patients will be followed over time to assess clinical symptoms for the purpose of expanding knowledge of this disorder in the medical community.

Condition or disease
Alpers Huttenlocher Syndrome

Detailed Description:
The study team will conduct outpatient visits to the medical center on a 6 month basis, or as patients are able. The patients or their caregivers will complete medical and symptom questionnaires.

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Study Type : Observational
Actual Enrollment : 2 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Natural History Study of Alpers Huttenlocher Syndrome
Actual Study Start Date : January 2014
Actual Primary Completion Date : July 27, 2022
Actual Study Completion Date : July 27, 2022

Patients with Alpers-Huttenlocher
Patients confirmed to have Alpers Huttenlocher Syndrome
Siblings of patients with Alpers Huttenlocher Syndrome

Primary Outcome Measures :
  1. onset age [ Time Frame: 2 years ]
    age at onset of first symptom versus POLG mutation type

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
patients with Alpers Huttenlocher Syndrome (AHS) and their siblings

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • Patient does not have confirmed AHS and is not the sibling of a patient with confirmed AHS
  • Not willing to participate in the NAMDC clinical Registry

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03034512

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United States, New York
Columbia University
New York, New York, United States, 10032
United States, Washington
Seattle Childrens Hospital
Seattle, Washington, United States, 98105
Sponsors and Collaborators
Columbia University
Seattle Children's Hospital
National Institute of Neurological Disorders and Stroke (NINDS)
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Principal Investigator: Michio Hirano, MD Columbia University
Study Chair: Russell Saneto, MD Seattle Children's Hospital
Additional Information:
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Responsible Party: Michio Hirano, MD, Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT03034512    
Other Study ID Numbers: AAAM9859
2U54NS078059-04 ( U.S. NIH Grant/Contract )
5U54NS078059-02 ( U.S. NIH Grant/Contract )
First Posted: January 27, 2017    Key Record Dates
Last Update Posted: August 1, 2022
Last Verified: July 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: This study is a sub project under the North American Mitochondrial Disease Consortium. The de-identified data can be shared if investigators have Institutional Review Board (IRB) approval for a project that might include data from this study and if the NAMDC administration approves of the project

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Diffuse Cerebral Sclerosis of Schilder
Pathologic Processes
Demyelinating Autoimmune Diseases, CNS
Autoimmune Diseases of the Nervous System
Nervous System Diseases
Brain Diseases
Central Nervous System Diseases
Demyelinating Diseases
Autoimmune Diseases
Immune System Diseases