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

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

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.

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.