Download presentation
Presentation is loading. Please wait.
1
Chip Wilmot, MD PhD Emory University
Barriers to Treatment Chip Wilmot, MD PhD Emory University
2
Disclosure Member, Data Safety Monitoring Board for studies involving Idebenone (Santhera Pharmaceuticals)
3
“Why Don’t We Have A Treatment for Ataxia Yet?”
-anonymous at NAF AMM 2012
4
“Why Don’t We Have A Treatment for Ataxia Yet?”
-anonymous at NAF AMM 2012 and FAPG and GAASG and my clinic and …
5
“Why Don’t We Have A Treatment for Ataxia Yet?”
-Chip Wilmot, MD, PhD Emory University
6
Treatment the care and management of a patient to combat, ameliorate, or prevent a disease, disorder, or injury.
7
Cure A method or course of medical treatment used to restore health.
8
Cure A method or course of medical treatment used to restore health.
Don’t forget about prevention (at least for dominant SCA’s)
9
Treatment -Symptomatic -pain, cramps, depression, mobility
-Disease-modifying -slowing the rate of progression
10
“Why Don’t We Have A Treatment for Ataxia Yet?”
-Developing a treatment is HARD
11
“Why Don’t We Have A Treatment for Ataxia Yet?”
-Developing a treatment is HARD -Expectations for treatments can be unrealistic
12
“Why Don’t We Have A Treatment for Ataxia Yet?”
-Developing a treatment is HARD -Expectations for treatments can be unrealistic -We are doing a good job, but …
13
“Why Don’t We Have A Treatment for Ataxia Yet?”
-Developing a treatment is HARD -Expectations for treatments can be unrealistic -We are doing a good job, but … - … there are certainly ways to facilitate treating ataxia
14
Clinical Disease Treat Human Disease
15
Clinical Disease Treat Human Disease
Etiology (Cause) Model Disease Treat Model Treat Human Disease
16
Clinical Disease Treat Human Disease
Etiology (Cause) Model Disease Treat Model Treat Human Disease
17
Clinical Disease Treat Human Disease
Etiology (Cause) Model Disease Treat Model Treat Human Disease
18
Clinical Disease Treat Human Disease
Etiology (Cause) Model Disease Treat Model Treat Human Disease
19
Clinical Disease Treat Human Disease
Etiology (Cause) Model Disease Treat Model Treat Symptoms Treat Human Disease Treat Disease
20
What is needed to develop effective treatments?
Knowledge of the disease pathophysiology A way to measure the disease An understanding of the natural history of the disease Research Infrastructure
21
-the cause – What is needed to develop effective treatments?
Knowledge of the disease pathophysiology -the cause – -ataxia genes galore -downstream consequences, e.g mitochondrial dysfunction in FRDA -insights into cerebellar (dys)function
22
-relevant models What is needed to develop effective treatments?
Knowledge of the disease pathophysiology -the cause -relevant models -mice, fruit flies, worms, etc.
23
-candidate treatments
What is needed to develop effective treatments? Knowledge of the disease pathophysiology -the cause -relevant models -candidate treatments -EPI-743, pioglitazone, lithium, riluzole, VEGF
25
FRDA Timeline 1863 1980 1990 2000 2010 Treatment Trials
Natural History Studies Begun Outcome Measures Validated First clinical description Gene Discovered 1863 1980 1990 2000 2010
26
A way to measure the disease
What is needed to develop effective treatments? Knowledge of the disease pathophysiology -the cause -relevant models -candidate treatments A way to measure the disease -clinical scales, instrumented measures, biomarkers
27
What is needed to develop effective treatments?
All the preliminary info: -the cause -relevant models -candidate treatments A way to measure the disease An understanding of the natural history of the disease -rate of progression -variability
28
What is needed to develop effective treatments?
All the preliminary info: -the cause -relevant models -candidate treatments A way to measure the disease An understanding of the natural history of the disease -rate of progression -variability Research Infrastructure -ataxia centers -$$$ -research subjects
29
IS THIS TREATMENT EFFECTIVE?
30
IS THIS TREATMENT EFFECTIVE?
31
IS THIS TREATMENT EFFECTIVE?
32
Lynch, D. R. et al. Arch Neurol 2010;67:941-947.
Copyright restrictions may apply.
33
How can the likelihood of a positive trial be improved?
34
How can the likelihood of a positive trial be improved?
1. Reduce variability -large numbers -homogeneous study population -precise measures
35
How can the likelihood of a positive trial be improved?
1. Reduce variability -large numbers -homogeneous study population -precise measures 2. Increase trial timeline
36
How can the likelihood of a positive trial be improved?
1. Reduce variability -large numbers -homogeneous study population -precise measures 2. Increase trial timeline 3. Use a more effective treatment
37
How can the likelihood of a positive trial be improved?
1. Reduce variability -large numbers -homogeneous study population -precise measures 2. Increase trial timeline 3. Use a more effective treatment Note: These are not always possible
38
What can be done to facilitate treatment development?
1. Learn from other diseases
39
ALS
40
ALS vs. ataxia ALS is 90% sporadic; pathophysiology not well understood Quicker progression, more definite clinical measures
42
What can be done to facilitate treatment development?
1. Learn from other diseases 2. Don’t disregard low lying fruit!!! -non-sexy treatments ARE available -(e.g. ALS PEG tubes and ventilatory support)
45
What can be done to facilitate treatment development?
1. Learn from other diseases 2. Don’t disregard low lying fruit!!! -non-sexy treatments ARE available
46
What can be done to facilitate treatment development?
1. Learn from other diseases 2. Don’t disregard low lying fruit!!! -non-sexy treatments ARE available 3. Never underestimate the power of dedicated action
47
What can be done to facilitate treatment development?
1. Learn from other diseases 2. Don’t disregard low lying fruit!!! -non-sexy treatments ARE available 3. Never underestimate the power of dedicated action
51
Thanks -Patients, families
-Coordinators: Bettye Robinson RN, Sue Gronka RN -Colleagues -NAF, FARA, MDA, NIH
Similar presentations
© 2025 SlidePlayer.com. Inc.
All rights reserved.