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

Overview

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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: April 2025

Arms, Groups and Cohorts

  • PKAN
    • This group consists of individuals diagnosed with PKAN using a combination of MRI, other clinical findings, and PANK2 gene sequencing.
  • PLAN
    • This group consists of individuals diagnosed with PLAN using a combination of MRI, other clinical findings and PLA2G6 gene sequencing.
  • BPAN
    • This group consists of individuals diagnosed with BPAN using a combinatino of MRI, other clinical findings, and WDR45 gene sequencing.

Clinical Trial Outcome Measures

Primary Measures

  • Document the natural history of NBIA and identify new markers of disease progression.
    • Time Frame: 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.

Participating in This Clinical Trial

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.

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Susan J. Hayflick
  • Collaborator
    • Oregon Health and Science University
  • Provider of Information About this Clinical Study
    • Sponsor-Investigator: Susan J. Hayflick, Professor & Chair, Molecular & Medical Genetics – Oregon Health and Science University
  • Overall Official(s)
    • Susan J Hayflick, MD, Principal Investigator, Oregon Health and Science University
  • Overall Contact(s)
    • Alison C Freed, BA, 503 494 6838, freeal@ohsu.edu

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