FSIG Expert Fabry Conference 2014, San Diego - Presentation by Dawn Laney, MS, CGC, CCRC on studies to un ravel the puzzle that is Fabry disease.

1. Emory LSDC:
Working on the
puzzle
Dawn Laney, MS, CGC,
CCRC

2. Your Current Medical Care
 Doctor/Center that sees lots of patients with
Fabry disease
 Doctor/Center that sees a several patients
with Fabry disease
 Doctor/Center that sees mainly you/your
family
 Quality Care can happen in ALL those
settings IF the medical professional is willing
to learn about FD

3. More about YOU
 Raise your hand if you have participated
in a research study for Fabry disease
 THANK YOU!!!

4. We call this CLINICAL Research
 Not in tubes or in mice
 Basic Research
 Preclinical
 Testing in PEOPLE

5. Clinical Research in Fabry
Disease: A Few Centers in U.S.
 Baylor in Dallas
 Children´s Hospital of
Wisconsin
 Children's Memorial
Hospital
 Children´s Mercy
Hospital
 Duke
 Emory
 Massachusetts General
Hospital
 Mt. Sinai in New York
 O&O Alpan
 STAR center at Childrens
Hospital of Cincinnatti
 University of Alabama
Birmingham
 University of California --
San Francisco
 University of Iowa
 University of Missouri-
Columbia
 University of Pittsburgh
 University of Washington
 Others…

6. Emory LSDC: Stats in a Flash
 126 Fabry patients
 6 LSD Genetic Counselors/Study coordinators (2
focused on FD)
 1 Study Coordinator/Administrator
 1 Infusion nurse
 1 Health Psychologist
 5 MDs (1 focused on FD)
 Innumerable students/trainees: 1 focused on FD
 Studies focused on FD:
 8 industry initiated
 6 Emory initiated

8. But not too busy to listen…
 We spend lots of time learning from YOU
and your healthcare providers.
 We’re paying attention…because there is
still so much to learn about Fabry disease
 Improved treatments
 Symptoms
 Timing
 More about the “Dragon” that is
Fabry disease

9. We’re working on pieces of the
Fabry puzzle to try and make things
better a bit at a time

10. But is not in
isolation…multicenter studies
often provide the best data

11. A quick look at some
questions and the research we
are doing to answer them…

12. Why can’t there be more than
one enzyme replacement
therapy for Fabry disease
available in the United States?
 PRX-102 studies (Protalix)
 Enrolling
 Men/women who have never been on ERT
and have protein in their urine.
 AT-B100: (Amicus) combo AT1001 + new
ERT
 Protocol not yet out

13. Why can’t I just take a pill?
 AT1001 (Amicus): chaperone therapy
studies
 In process, closed to enrollment
 Genz-682452 (Genzyme): substrate
reduction therapy
 Not yet begun yet…
 Planning on opening a few U.S. sites
 First study on men who have never
been on ERT

14. How will Fabry Disease affected
my kids?
 FIELD (Genzyme): closed to enrollment
 Following boys who had not been on ERT
before the study on 2 doses of Fabrazyme for
FIVE years
 MAP (Genzyme): open to enrollment
 One visit for boys before they begin ERT to
learn about impact of FD
 MOPPET (Emory):
 Long term following of babies affected by
Fabry disease (4 years)

15. How do I tell my kids about
Fabry Disease?
 Faber the Dragon
 Joe Learns About Fabry Disease
 Dani Goes to Fabry Camp
 The Long Road to Fabry

16. Is my depression because of
Fabry disease or because I
have a chronic disease?
 TAPP (Emory): psychotherapy with a
psychologist on the phone for individuals
with depression + questionnaires.
 APLI (Emory): psychotherapy with a
psychologist on the phone for individuals
with adaptive function disorders +
questionnaires.
 Neuropsychology studies: (Emory) grants
out!

17. Why does my OB/Gyn think
my pregnancy is high risk?
 IFOP (Emory)- Looking at past
pregnancies to determine what
pregnancy complications are more likely
in women with Fabry disease.

18. Is it really going to be harder
for me/my partner to become
pregnant?
FIT (Emory)- looking at women and men
with Fabry disease and rate of
pregnancies/having children
 Take a SURVEY TODAY! 

19. Why isn’t anyone asking me
what *I* think about newborn
screening for Fabry disease?
 POL: (Emory) Patients'
Perceptions on
Newborn Screening for
Late-Onset Lysosomal
Storage Diseases?
 ENROLLING!

20. How can we help more
people be diagnosed early
with Fabry disease?
 PEP (Emory) grant in looking a long term
f/up of newborn screening for FD and
relatives
 OPLSD (Emory) learning more about eye
findings in Fabry disease and how they
change over time
 Talk (you and us ) about it to any medical
professional you meet

21. How can You help?
 Volunteer for studies
 Talk your health care providers
 Keep in touch with your support groups
 Come to meetings (centers/national/camp)
 Keep on being curious
 Keep asking questions
 Keep on talking…

22. We’re still listening

23. Contact Information
Dawn Laney
Dawn.laney@emory.edu
404-778-8518 or 800-200-1524
I’m here all Saturday