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

October 5, 2020 updated by: Susan J. Hayflick

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 Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Anticipated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Alison C Freed, BA
  • Phone Number: 503 494 6838
  • Email: freeal@ohsu.edu

Study Contact Backup

  • Name: Allison M Gregory, MS, CGC
  • Phone Number: 503 494 4344
  • Email: gregorya@ohsu.edu

Study Locations

  • United States
    • Oregon
      • Portland, Oregon, United States, 97239-3098
        • Recruiting
        • Oregon Health & Science University
        • Contact:
        • Contact:
        • Principal Investigator:
          • Susan J Hayflick, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

The PKAN group consists of international individuals diagnosed with PKAN. The PLAN group consists of international individuals diagnosed with PLAN. The BPAN group consists of international individuals diagnosed with BPAN.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
5-10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Susan J. Hayflick

Collaborators

Oregon Health and Science University

Investigators

  • Principal Investigator: Susan J Hayflick, MD, Oregon Health and Science University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2015

Primary Completion (Anticipated)

April 1, 2025

Study Completion (Anticipated)

April 1, 2025

Study Registration Dates

First Submitted

October 23, 2015

First Submitted That Met QC Criteria

October 23, 2015

First Posted (Estimate)

October 27, 2015

Study Record Updates

Last Update Posted (Actual)

October 8, 2020

Last Update Submitted That Met QC Criteria

October 5, 2020

Last Verified

October 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 10832

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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