Transcript PRoBaND - ClinBase

PRoBaND
Parkinson’s Repository of Biosamples
and Networked Datasets
History
Hypotheses
Overview
Linkage to other studies
Dr Donald Grosset
Consultant Neurologist
Institute of Neurological Sciences
Glasgow
Funded by Parkinson’s UK
PRoBAND: history
Parkinson’s UK places call for major biomarker study
Joint scientific and clinical consortia form
PRoBaND is the clinical consortium to 2 of 3 studies
Discovery Award goes to Oxford group
Parkinson’s UK seeks reactivation of PRoBaND
PRoBaND funded by Parkinson’s UK
PRoBaND: overview
 Prospective clinical study of PD patients and relatives
 DNA collected and stored
 Serum collected and stored
PRoBaND: concepts
Genetic and biomarker diversity explains the varied clinical
phenotype of PD
Understanding these mechanisms will improve the design and
interpretation of basic science and clinical therapeutic
studies
Large sample sizes are needed to test subsets of PD patients
characterised by particular clinical (or genetic, or biomarker)
features
PRoBaND: sample size
Patients
Recent onset PD
Diagnosis under 50
2000
240
Gene tests 100 + 1900 –
12 + 228 –
PRoBaND: sample size
Patients
Recent onset PD
Diagnosis under 50
2000
240
Gene tests 100 + 1900 –
150
600
750
Siblings
12 + 228 –
PRoBaND: sample size
Patients
Recent onset PD
Diagnosis under 50
2000
240
Gene tests 100 + 1900 –
150
600
750
Siblings
12 + 228 –
18
72
90
PRoBaND: recruitment of PD cases
35 centres x (average of) 32 cases x 2 years
Around 2200 cases
(PD diagnosed within last 3 years or <50 years)
Study visits 6-monthly for 3 years (recent onset)
Only 0 and 6 months for young onset
Blood sample for DNA tests and biomarker analysis
Clinical scoring: motor, non-motor, olfactory
Clinical measurements: patients
 Clinician scoring
 *Past, social and family history
 UPDRS - clinician
 Cognitive – MoCA, fluency
 *Response to medication
 Diagnostic evolution
*Once during study
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Patient scoring
UPDRS – patient
*Smell – UPSIT
Depression – HADS
Sleep – ESS, RBD, PDSS
Autonomic – SCOPA
QoL – EQ5D, PDQ39
ICDs – QUIP
NMS scoring
Wearing-off
PRoBaND: recruitment of siblings
25 centres x (average of) 16 cases x 2 years
Around 800 subjects
(sibs of PD cases recruited to main study)
Visit schedule: 0, 36 months
Blood sample for DNA tests and biomarker analysis
Health questionnaires and clinical examination
PRoBaND biosamples
 Blood for DNA (baseline only)
 Serum for biomarkers (every 18 months)
 CSF, skin NOT part of the PRoBaND protocol
 Consent for future contact included
 Parkinson’s UK Tissue Bank enrolment
Basic plan for Parkinson gene
tests
LRRK2
GBA
Recent onset PD
Diagnosis under 50
Parkin (PARK 2)
PINK-1 (PARK 6)
Basic plan for Parkinson gene
tests
LRRK2
GBA
Recent onset PD
Diagnosis under 50
Parkin (PARK 2)
PINK-1 (PARK 6)
 Extend to new techniques eg. immunochip analysis
Project linkage: the ‘Networked Datasets’
component of PRoBAND
Oxford PD Discovery grant
Queens Square PD MRC study (Clinical component)
GWAS and young-onset PD gene studies
NMS Long (NILS) Study
Parkinson’s UK Tissue Bank, Imperial
Further studies: eg. MRI for diagnosis / progression
Thanks to…
 Study centre principal investigators, PD nurse
specialists and teams
 Parkinson’s UK
 Glasgow BioMedicine
 PRoBaND Committee members
 National and international collaborators, advisors
 DeNDRoN research network