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Alpers Huttenlocher Natural History Study (Alpers)

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ClinicalTrials.gov Identifier: NCT03034512
Recruitment Status : Recruiting
First Posted : January 27, 2017
Last Update Posted : August 5, 2019
Sponsor:
Collaborators:
Seattle Children's Hospital
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michio Hirano, MD, Columbia University

Tracking Information
First Submitted Date January 25, 2017
First Posted Date January 27, 2017
Last Update Posted Date August 5, 2019
Study Start Date January 2014
Estimated Primary Completion Date December 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 25, 2017)
onset age [ Time Frame: 2 years ]
age at onset of first symptom versus POLG mutation type
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Alpers Huttenlocher Natural History Study
Official Title Natural History Study of 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.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population patients with Alpers Huttenlocher Syndrome (AHS) and their siblings
Condition Alpers Huttenlocher Syndrome
Intervention Not Provided
Study Groups/Cohorts
  • Patients with Alpers-Huttenlocher
    Patients confirmed to have Alpers Huttenlocher Syndrome
  • Siblings
    Siblings of patients with Alpers Huttenlocher Syndrome
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: January 25, 2017)
50
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2020
Estimated Primary Completion Date December 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

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
Sex/Gender
Sexes Eligible for Study: All
Ages Child, Adult, Older Adult
Accepts Healthy Volunteers Yes
Contacts
Contact: Kristin Engelstad, MS 6467079112 ke4@cumc.columbia.edu
Contact: Jassim Uddin, BS 1212342-0267 ju2189@cumc.columbia.edu
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT03034512
Other Study ID Numbers AAAM9859
2U54NS078059-04 ( U.S. NIH Grant/Contract )
5U54NS078059-02 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
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
Responsible Party Michio Hirano, MD, Columbia University
Study Sponsor Columbia University
Collaborators
  • 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
PRS Account Columbia University
Verification Date August 2019