NBIAready: Online Collection of Natural History Patient-reported Outcome Measures

Study Overview
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Brief Summary
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The purpose of this study is to learn more about Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders. Data is being collected on three types of NBIA disorders: Pantothenate Kinase-Associated Neurodegeneration (PKAN), PLA2G6-associated Neurodegeneration (PLAN) and Beta-propeller Protein-associated Neurodegeneration (BPAN). The study will (1) collect information about how symptoms and findings in NBIA change over time and (2) identify measures of NBIA that can be used in future clinical trials. Participants will follow links to a secure website every 6 months for a period of 5-10 years to electronically complete a set of rating scales as related to their NBIA disorder.

Official Title
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NBIAready: Online Collection of Natural History Patient-reported Outcome Measures

Conditions
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Neurodegeneration With Brain Iron Accumulation (NBIA)

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of PKAN, PLAN or BPAN confirmed by gene testing and/or clinical features. Ability to access a computer with internet services or a phone approximately once every 6 months for up to 10 years to enter data. Exclusion Criteria: Individuals who are not fluent in reading and communicating in English.
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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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| PKAN<br>This group consists of individuals diagnosed with PKAN using a combination of MRI, other clinical findings, and PANK2 gene sequencing. | |
| PLAN<br>This group consists of individuals diagnosed with PLAN using a combination of MRI, other clinical findings and PLA2G6 gene sequencing. | |
| BPAN<br>This group consists of individuals diagnosed with BPAN using a combinatino of MRI, other clinical findings, and WDR45 gene sequencing. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Document the natural history of NBIA and identify new markers of disease progression. | The unit of analyses will be the data collected on NBIA milestones and patient-reported outcome measures. Latent Growth Curve (LGC) modeling will be used to characterize the natural history of NBIA. If data support that certain disease milestones occur in a consistent order, or at consistent ages, then these data points will be candidate markers of disease progression. LGC will be used to characterize the natural history of NBIA and identify areas in which individuals with NBIA differ from the general population. | 5-10 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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PLAN, NBIA, PKAN, brain iron, Neurodegeneration with Brain Iron Accumulation, Hallervorden Spatz Syndrome, Pantothenate Kinase Associated Neurodegeneration, INAD, PLA2G6-associated neurodegeneration, BPAN, Beta-propeller Protein-associated neurodegenration, WDR45, PLA2G6