What data should be collected on

CONTROL SUBJECTS?

Katrina Gwinn-Hardy MD, NINDS

The NINDS Repository

Established 10-02Samples and Clinical data on

Parkinsons, Stroke, Epilepsy, ALSOver 3000 samples on affected,

controls, families with accompanying data

http://locus.umdnj.edu/ninds

http:// locus.umdnj.edu/ninds

Our Goal for Control Samples

Have enough clinical details to allow investigator to include those ideal for his/her studyAre “true” controls

Can be useful across multiple collectionsTend to be harder to accumulate than cases

Control Collections

Most Controls collections have minimal if any data

Population basedGender, age

OthersSame data as casesMay not allow broad use for other disease

entities?

A Review of the Literature

Oh no! there’s no statements on criteria for controls in genetics studies per se! Many studies don’t describe any clinical features, just demographics…..

Ask the experts

Spouses are great.. We insist on spousal controls….

Its so important…Controls need to be population.. And also…age and gender matched…

It doesn’t matter as long as you get a lot

use of spousal controlsWill lead to grievous errors

The next source of inspiration

Sailing“If you can’t tie good knots, tie a lot of them”Population based

Hard to getConvenience Controls

Not easy to getSpouse controls

Some feel they are terribleSome feel they are excellent (Very few are indifferent)

Data Collected

Demographic Age, Gender, Race

Type of control Unaffected Spouse

(indicate spouse diagnosis, ID)

Population Control Convenience

Medical History Alz, ALS, Ataxia, Autism, Bipolar,

Aneurysm, Cancer, Dementia, Depression, Diabetes, Dystonia, Epilepsy,,CAD, Memory Loss Migraine, MS, Muscle disease, PD, Schizophrenia, Suicide, Stroke

Family History Same disorders Relationship

Any other samples from family

Smoking Hx Who collected data

Neurologist, other MD, non-MD

Was the subject examined? Results of neuro exam

normal? MMSE

Current Control Data

No Neurological DiseaseDetailed Medical History

For those over a “certain age”, everyone has some medical history

No FH of Neurological DiseaseDetailed FH in first degree relatives

SmokingNormal Neurological Examination

Currently Collection

CollectedApproximately 1000

Available nowAbout 50

Available soon at a repository near youAbout 300

Positive Controls

Currently available (Catalogue): Known genetic variant

collection Subject with Parkin

homozygous deletion Subjects with alpha-

synuclein triplication (and at risk, not at risk family members)

Others as discoveries are made, collection expands

What do you think is important?

What features are being collected that are useful?

What is missing?