Natural History of Infantile Neuroaxonal Dystrophy

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

COMPLETED

Total Enrollment

13 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-07-30

Study Completion Date

2020-02-27

Brief Summary

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This is a retrospective and cross-sectional review of the natural history of INAD.

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Detailed Description

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After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed. If needed, a telephone or video conference will be scheduled with the patient's family to confirm and clarify information in the medical record. Deceased patients may be eligible for inclusion the retrospective registry if medical records are sufficient and indicate eligibility. Data will be pooled and presented in aggregate, without identification of individual subjects.

Conditions

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Infantile Neuroaxonal Dystrophy INAD

Study Design

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Observational Model Type

OTHER

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Male or female 18 months to 10 years of age
* Medical history consistent with the symptoms of classic INAD (onset of symptoms between the ages of 6 months and 3 years)
* Homozygous for PLA2G6 deficiency (variant alleles may be mixed heterozygotes)
* Signed informed consent form (ICF) prior to entry into the registry