Alpers Huttenlocher Natural History Study

Natural History Study of Alpers Huttenlocher Syndrome

Status

Terminated

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03034512

Acronym

Alpers

Enrollment

Registered

2017-01-27

Start date

2014-01-31

Completion date

2022-07-27

Last updated

2022-08-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Alpers Huttenlocher Syndrome

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.

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

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

Design outcomes

Primary

Measure	Time frame	Description
onset age	2 years	age at onset of first symptom versus POLG mutation type

Countries

United States

Outcome results