Alpers Huttenlocher Natural History Study

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

2 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-01-31

Study Completion Date

2022-07-27

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Alpers Huttenlocher Syndrome

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with Alpers-Huttenlocher

Patients confirmed to have Alpers Huttenlocher Syndrome

No interventions assigned to this group

Siblings

Siblings of patients with Alpers Huttenlocher Syndrome

No interventions assigned to this group

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes