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

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02587858

Enrollment

300

Registered

2015-10-27

Start date

2015-04-30

Completion date

2025-04-30

Last updated

2020-10-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Neurodegeneration With Brain Iron Accumulation (NBIA)

Keywords

NBIA, PKAN, brain iron, Neurodegeneration with Brain Iron Accumulation, Hallervorden Spatz Syndrome, Pantothenate Kinase Associated Neurodegeneration, PLAN, INAD, PLA2G6-associated neurodegeneration, BPAN, Beta-propeller Protein-associated neurodegenration, WDR45, PLA2G6

Brief summary

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

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.

Design outcomes

Primary

Measure	Time frame	Description
Document the natural history of NBIA and identify new markers of disease progression.	5-10 years	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.

Countries

United States

Contacts

Primary ContactAlison C Freed, BA

freeal@ohsu.edu503 494 6838

Backup ContactAllison M Gregory, MS, CGC

gregorya@ohsu.edu503 494 4344

Outcome results