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Alpers Huttenlocher Natural History Study

Sponsor
Columbia University (Other)
Overall Status
Terminated
CT.gov ID
NCT03034512
Collaborator
Seattle Children's Hospital (Other), National Institute of Neurological Disorders and Stroke (NINDS) (NIH)
2
Enrollment
2
Locations
102.8
Actual Duration (Months)
1
Patient Per Site
0
Patients Per Site Per Month

Study Details

Study Description

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 Intervention/Treatment Phase

    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.

    Study Design

    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 :
    Jan 1, 2014
    Actual Primary Completion Date :
    Jul 27, 2022
    Actual Study Completion Date :
    Jul 27, 2022

    Arms and Interventions

    Arm Intervention/Treatment
    Patients with Alpers-Huttenlocher

    Patients confirmed to have Alpers Huttenlocher Syndrome
    Siblings

    Siblings of patients with Alpers Huttenlocher Syndrome

    Outcome Measures

    Primary Outcome Measures

    1. onset age [2 years]

      age at onset of first symptom versus POLG mutation type

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Columbia University New York New York United States 10032
    2 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)

    Investigators

    • Principal Investigator: Michio Hirano, MD, Columbia University
    • Study Chair: Russell Saneto, MD, Seattle Children's Hospital

    Study Documents (Full-Text)

    None provided.

    More Information

    Additional Information:

    Publications

    None provided.
    Responsible Party:
    Michio Hirano, MD, Professor of Neurology, Columbia University
    ClinicalTrials.gov Identifier:
    NCT03034512
    Other Study ID Numbers:
    • AAAM9859
    • 2U54NS078059-04
    • 5U54NS078059-02
    First Posted:
    Jan 27, 2017
    Last Update Posted:
    Aug 1, 2022
    Last Verified:
    Jul 1, 2022
    Individual Participant Data (IPD) Sharing Statement:
    Yes
    Plan to Share IPD:
    Yes
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Diffuse Cerebral Sclerosis of Schilder
    Syndrome

    Study Results

    No Results Posted as of Aug 1, 2022