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

NCT02587858 | Unknown

• 1 other identifier: 10832
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

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.

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

Outcome Measures

Primary Outcomes (1)

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

  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

Study Arms (3)

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

• Individuals who are not fluent in reading and communicating in English.

Sponsors & Collaborators

• Susan J. Hayflick: lead
• Oregon Health and Science University: collaborator

Study Sites (1)

Oregon Health & Science University

Portland, Oregon, 97239-3098, United States

RECRUITING

Related Links

• Official website of the OHSU NBIA research group

Biospecimen

Retention: SAMPLES WITH DNA

BPAN participants will be asked for blood and saliva samples.

MeSH Terms

Conditions

Pantothenate Kinase-Associated Neurodegeneration; Neuroaxonal Dystrophies

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Susan J Hayflick, MD

  Oregon Health and Science University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Alison C Freed, BA

CONTACT

503 494 6838; freeal@ohsu.edu

Allison M Gregory, MS, CGC

CONTACT

503 494 4344; gregorya@ohsu.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor & Chair, Molecular & Medical Genetics

Study Record Dates

• First Submitted: October 23, 2015
• First Posted: October 27, 2015
• Study Start: April 1, 2015
• Primary Completion: April 1, 2025
• Study Completion: April 1, 2025
• Last Updated: October 8, 2020

Record last verified: 2020-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)