Report of the ASFA Apheresis Registry Study on Wilson’s Disease

• Y. Wu, Yale, Puget Sound Blood Center

• H. P. Pham, Columbia University and NYBC

• S. Morgan, University of Minnesota

• C. Yamada, University of Michigan

• L. Cooling, University of Michigan

• J. Hofmann, Pacific Medical Center

• Haewon C. Kim, Children’s Hospital of Philadelphia

• M. Pagano, Puget Sound Blood Center

• J. Schneiderman, NorthWestern University

• B. Sachais, University of Pennsylvania

• J. Schwartz, MD, Columbia University

• J L. Winters, MD, Mayo Clinic

• E. C.C. Wong, Children’s National Health System, DC

ASFA Apheresis Registry Study

on Wilson’s Disease

Introduction

Wilson’s disease: a rare autosomal recessive genetic disorder of the ATP7B gene that results in copper accumulation in the liver, brain, cornea and kidney

Even though there are available treatment options such as Low-copper diets, copper chelation, patient may still present in crisis either before their disease was diagnosed, or due to ineffective or intolerable treatments

Introduction

For patients with Wilson’s disease crisis or often characterized with fulminant hepatic failure, they often present with

a severe DAT- negative hemolytic anemia and multi-organ failure, and rapid clinical deterioration

Many of these patients can’t survive without liver transplantation

Introduction

Therapeutic plasma exchange (TPE) has been used to remove copper as well as a bridging therapy to liver transplantation

Most of the studies of applying plasma exchange for Wilson’s disease have been based on case reports

Here we report the collective experiences through the ASFA apheresis registry study on Wilson’s disease.

Introduction

Most of the studies of applying plasma exchange for Wilson’s disease have been based on case reports

Here we report the collective experiences through the ASFA apheresis registry study on Wilson’s disease.

Methods

The ASFA apheresis registry study: a multi-

centered registry study

Both prospective and retrospective data with

the latter involving data collection back to

January 2000 are allowed in the registry.

Study data were collected and managed using

REDCap electronic data capture tools hosted

at Children’s National Health System. REDCap

(Research Electronic Data Capture) is a secure,

web-based application designed to support

data capture for research studies

Methods

The registry includes patient demographic and

clinical information, apheresis procedural

information, treatment schedule, and

treatment outcome/complications

All participating sites had obtained approval

from the ASFA apheresis registry subcommittee

of the ASFA Applications committee as well as

from local IRBs

Results

To date, a total of 10 patients with Wilson’s

disease were included in this study, all

retrospective

3/7 (M/F); 1A/4W/5U; two had known family

history

2 out 3 tested were positive for ATP7B

50% (5/10) had documented Kayser-Fleischer

ring

Other than one patient (2nd), all presented as

first crisis.

Results

A total of 43 TPEs from 2005 to 2013, and all

patients had just one session of TPE.

Other than one patient who had received one

TPE before the patient was transferred to the

study site, all patients did not receive any other

TPEs prior to the first study TPE.

Results

All of the TPEs used ACD-A as anticoagulant

98% (42/43) TPEs were performed with 1-1.25

plasma volume exchange

95% (41/43) TPEs performed with 100% fluid

balance

77% (29/35) were replaced with plasma only,

23% (8/35) were replaced with plasma/albumin

100% TPEs performed with central line, 12%

(5/43) were femoral line, the rest were IJ line.

One catheter tip had a positive blood culture

Results

70% had Ca supplement

12% had RBC priming performed

10% had reaction, 3 citrate reaction, 1 febrile

reaction

Results Subject

No.

Median Min Max

Age at

diagnosis

10 16 6 30

Age at first

TPE

10 17 6 61

TPE per

patient

10 3.5 1 9

TPE duration

span

10 3.5 1 13

Results

Subject

No.

Median Min Max

Days from

first TPE to

liver

transplant

9 4 1 53

Days from last

TPE to liver

transplant

9 1 0 43

Results

10 of 10 patients were listed for liver

transplantation

9 of 10 patients underwent liver transplantation

One patient did not undergo liver transplant,

currently on chelation and doing well

100% of them had a 6-month survival

Conclusion

All 10 patients with Wilson’s disease who

underwent plasma exchange had a positive

outcome in terms of 6 month survival

As a first report of the ASFA apheresis registry

study, we demonstrated the value of using this

registry to collect apheresis related patient

outcome from multiple centers

QUESTIONS?