Natural History of Infantile Neuroaxonal Dystrophy

Biojiva LLC13 enrolled

Overview

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

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Infantile Neuroaxonal Dystrophy INAD

Eligibility

Sex: ALLMin age: 18 MonthsMax age: 10 Years

Medical Language ↔ Plain English

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 Exclusion Criteria: * Diagnosis of atypical NAD (ANAD) * Unwilling or unable to allow medical record review

Locations (1)

Sarah Endemann

Los Altos, California, United States

Outcomes

Primary Outcomes

To describe the natural history of infantile neuroaxonal dystrophy (INAD).

Overall analysis

Time frame: Birth to time of enrollment.

Secondary Outcomes

To look for trends in disease progression of INAD that may be helpful in planning future interventional trials in INAD.

Overall analysis

Time frame: Birth to time of enrollment.

Evaluating and potentially validating a Assessment of Severity by Parent or Caregiver questionnaire.

In the questionnaire parents/caregivers are asked to score the child on a scale of 1 to 4 based on how often the child can perform 33 various activities of daily living. The individual scores are then added up to form a composite score of disease severity, with lower scores indicating higher severity and higher score indicating less disease progression.

Time frame: At time of enrollment.

Data from ClinicalTrials.gov

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