BLAAC PD - Black and African Americans Connections to PD (NCT06719583)

BLAAC PD - Black and African Americans Connections to Parkinson's Disease (NCT06719583)

Status: Recruiting Type: Observational Sponsor: Michael J. Fox Foundation Enrollment: 500 participants Study Start: January 2024 Estimated Completion: December 2027

Overview

BLAAC PD (Black and African Americans Connections to Parkinson's Disease) is an observational study led by the Michael J. Fox Foundation addressing critical health disparities in Parkinson's disease research.[@health2024] This study focuses on understanding how Parkinson's disease affects Black and African American communities, with the goal of improving representation in PD research and addressing healthcare inequities.[@michael]

Background

BLAAC PD - Black and African Americans Connections to Parkinson's Disease (NCT06719583)

Status: Recruiting Type: Observational Sponsor: Michael J. Fox Foundation Enrollment: 500 participants Study Start: January 2024 Estimated Completion: December 2027

Overview

BLAAC PD (Black and African Americans Connections to Parkinson's Disease) is an observational study led by the Michael J. Fox Foundation addressing critical health disparities in Parkinson's disease research.[@health2024] This study focuses on understanding how Parkinson's disease affects Black and African American communities, with the goal of improving representation in PD research and addressing healthcare inequities.[@michael]

Background

Health Disparities in Parkinson's Disease

Historical underrepresentation of minority populations in PD research has created significant knowledge gaps:[@diverse2023]

• Limited data: Most PD studies are conducted in predominantly white cohorts
• Genetic diversity: Lack of representation limits understanding of genetic factors
• Clinical presentation: Possible differences in symptom presentation
• Treatment access: Disparities in diagnosis and treatment

The Need for BLAAC PD

This study addresses:

Study Design

| Parameter | Value |
|-----------|-------|
| Design | Cross-sectional and longitudinal observational |
| Focus | Health disparities in Black/African American PD patients |
| Arms | PD patients vs. healthy controls |
| Duration | 3-year enrollment and follow-up |

Inclusion Criteria

Exclusion Criteria

Study Objectives

Primary Objectives

Secondary Objectives

Data Collection

Clinical Assessments

• Motor function: MDS-UPDRS motor examination
• Non-motor symptoms: Cognition, mood, sleep, autonomic function
• Quality of life: PDQ-39, other patient-reported outcomes
• Medical history: Detailed symptom and treatment history

Biosamples

• Blood: DNA, plasma, serum
• CSF: Cerebrospinal fluid (subset)
• Saliva: For biomarker studies

Additional Data

• Genetics: Whole genome sequencing
• Imaging: MRI (subset)
• Environmental exposures: Lifestyle and occupational history

Scientific Impact

Importance of Diversity in PD Research

Understanding PD in diverse populations:

• Genetic insights: Different genetic backgrounds may reveal novel risk factors
• Clinical variation: May identify different phenotype presentations
• Treatment response: Understanding response differences
• Health disparities: Identifying and addressing healthcare inequities

Expected Outcomes

• Representative cohort: First large-scale Black/African American PD cohort
• Genetic data: Population-specific genetic variants
• Clinical phenotyping: Characterize PD presentation in this population
• Future trials: Infrastructure for future clinical trial inclusion

Michael J. Fox Foundation for Parkinson's Disease Research

The Michael J. Fox Foundation (MJFF) is the world's leading nonprofit funder of Parkinson's disease research, having invested over $1.5 billion since its founding in 2000. The foundation's mission is to find a cure for Parkinson's disease through funded research and clinical trial infrastructure development.

Foundation Programs

Fox Insight: MJFF's flagship patient registry program that collects self-reported data from individuals with Parkinson's disease and healthy controls. This massive longitudinal dataset provides valuable phenotypic information for research.

Clinical Trial Readiness Programs: The foundation has established networks of clinical trial sites prepared to conduct PD research, reducing startup time for new studies.

The Parkinson's Progression Markers Initiative (PPMI): A landmark biomarker study that has enrolled over 1,500 participants including individuals with PD, at-risk carriers of PD genes, and healthy controls.

MJFF Research Priorities

Foundation Impact on Clinical Trials

The Michael J. Fox Foundation has been instrumental in advancing PD clinical trials:

• De-risking research: Providing funding for early-stage projects that might not otherwise receive support
• Patient engagement: Building a community of engaged research participants through Fox Insight
• Data sharing: Creating open-access datasets that accelerate research
• Regulatory engagement: Working with FDA to advance drug development endpoints

Study Design Details

Cross-Sectional Assessment Protocol

The cross-sectional component establishes baseline characteristics:

Longitudinal Follow-Up Protocol

Participants are followed over the 3-year study period:

• Month 6: Brief telephone assessment
• Year 1: In-person comprehensive assessment
• Year 2: In-person comprehensive assessment
• Year 3: In-person comprehensive assessment and study completion

Biosample Processing and Storage

All collected biosamples follow standardized protocols:

Blood Processing:

• Whole blood collected in EDTA tubes for plasma separation
• Whole blood collected in PAXgene tubes for RNA isolation
• Serum separator tubes for biomarker studies
• Processing within 2 hours of collection
• Aliquoted and stored at -80°C

• Lumbar puncture performed by trained neurologists
• Collection in polypropylene tubes
• Centrifugation within 1 hour
• Stored in 0.5 mL aliquots at -80°C
• Dedicated for biomarker analysis

• Standard salting-out method or automated extraction
• Whole genome sequencing for all participants
• Quality control metrics for sample integrity
• Population stratification analysis

Statistical Considerations

Power Analysis:

• Target enrollment of 500 provides 80% power to detect effect sizes of 0.25 with α=0.05
• Allows for subgroup analyses by genetic status
• Provides adequate sample for novel variant discovery

• Descriptive statistics for all demographic and clinical variables
• Comparison of PD phenotypes with published white cohort data
• Genetic variant frequency estimation

Clinical Phenotyping Details

Motor Assessment Battery

The motor examination follows MDS-UPDRS Part III standardized protocol:

Assessment Components:

Assessment Conditions:

• OFF medication assessment (withdrawal ≥12 hours)
• ON medication assessment (1-2 hours after usual medication)
• Video recording for central reading (subset)

Non-Motor Assessment Battery

Cognitive Assessment:

• Montreal Cognitive Assessment (MoCA)
• Trail Making Test A and B
• Digit Span Forward and Backward
• Word List Learning and Recall

• Beck Depression Inventory (BDI-II)
• State-Trait Anxiety Inventory (STAI)
• Parkinson's Disease Questionnaire (PDQ-39) - emotional well-being subdomain
• Apathy Evaluation Scale

• Parkinson's Disease Sleep Scale (PDSS-2)
• Epworth Sleepiness Scale (ESS)
• REM Sleep Behavior Disorder Screening Questionnaire (RBDSQ)

• Orthostatic blood pressure measurements
• urinary symptom questionnaire
• gastrointestinal symptom inventory

Quality of Life Measures

PDQ-39:

• 39 items across 8 domains
• Mobility, activities of daily living, emotional well-being, stigma, social support, communication, bodily discomfort, cognition
• Standardized to 0-100 scale

• Generic health status measure
• Physical and mental component scores
• Allows comparison with general population

Genetic Analysis Plan

Whole Genome Sequencing Protocol

Sequencing Parameters:

• 30x coverage minimum
• Illumina NovaSeq or equivalent platform
• Alignment to GRCh38 reference
• Variant calling following GATK best practices

• Sample-level: call rate >98%, contamination <3%
• Variant-level: genotype quality score >30, read depth >10
• Population outliers identified via PCA

Variant Annotation and Interpretation

Computational Tools:

• ANNOVAR for functional annotation
• SIFT and PolyPhen for pathogenicity prediction
• CADD for variant deleteriousness scoring
• ClinVar database for known pathogenic variants

• Pathogenic, Likely Pathogenic, Variant of Uncertain Significance (VUS), Likely Benign, Benign
• Following ACMG guidelines

Gene-Specific Analysis

PD-Associated Genes:

• LRRK2: G2019S, R1441C/H/G, N1437H, Y1699C
• GBA: N409S, L444P, E326K, T369M
• SNCA: A53T, A30P, duplications
• PARK2 (parkin), PARK7 (DJ-1), PINK1, ATP13A2
• VPS35: D620N
• DNAJC13, RAB39B, SYNJ1

• Polygenic risk score calculation
• Novel gene discovery in familial cases
• Founder mutation identification

Health Equity and Research Design

Historical Context

Underrepresentation in PD Research:

• Prior to 2020, less than 5% of PD clinical trial participants were from minority populations
• Genetic studies heavily biased toward European ancestry
• Clinical phenotypic data primarily from white cohorts
• Healthcare access disparities affect diagnosis and treatment

Barriers to Participation

Identified Barriers:

Study Solutions

BLAAC PD Addressing Barriers:

• Site selection in areas with significant Black populations
• Community-based recruitment through churches and community organizations
• Flexible scheduling including evening and weekend appointments
• Reimbursement for travel and time
• Culturally sensitive study staff and materials
• Partnerships with Black neurologists and healthcare providers

Community Engagement

Stakeholder Engagement:

• Advisory board including Black PD patients and caregivers
• Community advisory councils in each study region
• Focus groups to inform study design and recruitment strategies
• Patient navigation support throughout study participation

Scientific Impact and Future Directions

Anticipated Scientific Contributions

1. Genetic Data:

• First large-scale whole genome sequencing dataset from Black PD patients
• Novel variant discovery in known PD genes
• Population-specific risk allele identification
• Refinement of polygenic risk scores for this population

• Comprehensive characterization of PD symptoms in Black patients
• Comparison with white cohorts to identify similarities and differences
• Identification of potential phenotype modifiers by ancestry
• Natural history data specific to this population

• Diagnostic delay patterns
• Treatment utilization patterns
• Barriers to specialist care
• Healthcare outcomes in under-resourced settings

Building Research Infrastructure

Long-term Impact:

• Establish network for future clinical trial inclusion
• Train researchers in culturally competent approaches
• Create repository of biosamples for future studies
• Develop model for inclusion of other underrepresented populations

Future Clinical Trial Applications

Trial Design Implications:

• Understand potential treatment response differences
• Develop ancestry-appropriate outcome measures
• Ensure generalizability of therapeutic benefits
• Reduce health disparities in PD care

Related Pages

• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Parkinson's Disease Genetics](/genetics/parkinsons-genetics)
• [LRRK2 Gene and Parkinson's Disease](/genes/lrrk2)
• [GBA Gene and Parkinson's Disease](/genes/gba)
• [Health Disparities in Neurodegeneration](/mechanisms/health-disparities-neurodegeneration)
• [PD Epidemiology](/epidemiology/parkinson-epidemiology)
• [Michael J. Fox Foundation](/organizations/michael-j-fox-foundation)
• [Clinical Trials in Parkinson's Disease](/clinical-trials/pd-trials-overview)
• [Fox Insight Registry](/organizations/fox-insight)

See Also

• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)

External Links

• [PubMed](https://pubmed.ncbi.nlm.nih.gov/)
• [KEGG Pathways](https://www.genome.jp/kegg/pathway.html)

References