Alpers Huttenlocher Natural History Study

Alpers Huttenlocher Syndrome Clinical Trial

— Alpers  

Official title:

Natural History Study of Alpers Huttenlocher Syndrome

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT03034512
• Other study ID #: AAAM9859
• Secondary ID: 2U54NS078059-045
• Status: Terminated
• Start date: January 2014
• Est. completion date: July 27, 2022

Study information

• Verified date: July 2022
• Source: Columbia University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 2
• Est. completion date: July 27, 2022
• Est. primary completion date: July 27, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Alpers Huttenlocher Syndrome
• Syndrome

Locations

Country	Name	City	State
United States	Columbia University	New York	New York
United States	Seattle Childrens Hospital	Seattle	Washington

Sponsors (3)

Lead Sponsor	Collaborator
Columbia University	National Institute of Neurological Disorders and Stroke (NINDS), Seattle Children's Hospital

Country where clinical trial is conducted

United States, 

Outcome

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

External Links

•   North American Mitochondrial Disease Consortium (NAMDC) Study Site