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| Name | Class |
|---|---|
| Oregon Health and Science University | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Alison C Freed, BA | Contact | 503 494 6838 | freeal@ohsu.edu | |
| Allison M Gregory, MS, CGC | Contact | 503 494 4344 | gregorya@ohsu.edu |
| Name | Affiliation | Role |
|---|---|---|
| Susan J Hayflick, MD | Oregon Health and Science University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Oregon Health & Science University | Recruiting | Portland | Oregon | 97239-3098 | United States |
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| Label | URL |
|---|---|
| Official website of the OHSU NBIA research group | View source |
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| ID | Term |
|---|---|
| D006211 | Pantothenate Kinase-Associated Neurodegeneration |
| D019150 | Neuroaxonal Dystrophies |
| ID | Term |
|---|---|
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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BPAN participants will be asked for blood and saliva samples.
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |