A Natural History Study of Infantile Neuroaxonal Dystrophy

Study Overview
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Brief Summary
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This study is a longitudinal and prospective study of the natural history of infantile neuroaxonal dystrophy (INAD).

Detailed Description
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After obtaining informed consent, the study participants' relevant medical records will be collected and reviewed for this study. Next, a clinic visit will be scheduled with the patient's family and an observing MD/DO/MBBS from a sponsor site to confirm and clarify information in the medical records. A baseline evaluation of clinical status will also be performed during this visit to serve as visit one in this longitudinal, prospective natural history study. Subsequent visits will take place every 6 months, for up to 24 months. Key components of this prospective study at each visit include a neurodevelopment exam tailored for INAD, application of the CHOP-INTEND neurodevelopment scale, the Hammersmith infant neurological examination and the modified Ashworth spasticity scale as well as collection of monthly parental severity scoring and monthly home videos of activities of daily living (ADLs). Data from this study will be pooled and presented in aggregate, without identification of individual subjects.

Official Title
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Protocol RT001-009: A Natural History Study of Infantile Neuroaxonal Dystrophy

Conditions
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Neuroaxonal Dystrophy, Infantile

Participation Criteria
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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 or compound heterozygous PLA2G6 variants Signed informed consent form (ICF) prior to entry into the registry Exclusion Criteria: Diagnosis of atypical NAD (ANAD) Additional underlying diagnosis with features that overlap with INAD Unwilling or unable to allow medical record review Unwilling or unable to participate in serial assessments every 6 months (including deceased patients)

Ages Eligible for Study
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Minimum Age: 18 Months
Maximum Age: 10 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| INAD Mortality | Overall analysis | 1-2 years of follow-up is planned | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| INAD Morbidity | Videotaped, structured neurological assessment | 1-2 years of follow-up is planned | 
| INAD Morbidity | CHOP-INTEND Neuro-development Score | 1-2 years of follow-up is planned | 
| INAD Morbidity | Hammersmith infant neurological examination | 1-2 years of follow-up is planned | 
| INAD morbidity | Modified Ashworth spasticity scale | 1-2 years of follow-up is planned | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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PLA2G6-related NBIA, INAD, PLA2G6