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

Susan J. Hayflick

Status: Enrolling

Conditions: Neurodegeneration With Brain Iron Accumulation (NBIA)

Study type: Observational

Funder types: Other

Identifiers

NCT02587858

10832

Details and patient eligibility

About

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.

Enrollment: 300 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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.

Trial design

300 participants in 3 patient groups

PKAN

Description:

This group consists of individuals diagnosed with PKAN using a combination of MRI, other clinical findings, and PANK2 gene sequencing.

PLAN

Description:

This group consists of individuals diagnosed with PLAN using a combination of MRI, other clinical findings and PLA2G6 gene sequencing.

BPAN

Description:

This group consists of individuals diagnosed with BPAN using a combinatino of MRI, other clinical findings, and WDR45 gene sequencing.