Recruiting

Observational Study

Sponsor:

Susan J. Hayflick

Code:

NCT02587858

Conditions

Neurodegeneration With Brain Iron Accumulation (NBIA)

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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)

Study ID

NCT02587858

Start date

Apr, 2015

Status verified date

Oct, 2020

Completion date

Apr, 2025

Anticipated

Primary completion date

Apr, 2025

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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 Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Document the natural history of NBIA and identify new markers of disease progression. [ Time Frame: 5-10 years ]

Central Contacts and Locations

Central contacts

Alison C Freed, BA

503 494 6838freeal@ohsu.edu

Allison M Gregory, MS, CGC

503 494 4344gregorya@ohsu.edu

Locations

Oregon Health & Science University

Recruiting

Portland, Oregon, United States, 97239-3098

Contacts

Alison C Freed, BA

503-494-6838freeal@ohsu.edu

Allison M Gregory, MS, CGC

503 494 4344gregorya@ohsu.edu

Principal Investigator:

Susan J Hayflick, MD

More Information

Sponsor

Susan J. Hayflick

Last update posted

Oct 8, 2020

Last verified

Oct, 2020

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Susan J. Hayflick on 2020-10-08.