SANOFI GENZYME RARE DISEASE REGISTRIES
ewsletter
CURRENT REGISTRY METRICS
Welcome to July’s issue of the Rare
Disease Registry Newsletter. It is
with great pleasure that we share
some of the key enrolment metrics
and recent achievements and
happenings for the Program.
SITE 
ENROLLMENT 
STATUS 
Thanks to all our sites continued
efforts and participation, we have
reached a significant milestone of
more than 15,600 patients enrolled
from more than 900 participating
sites across the 4 Rare Disease
Registries.
GLOBAL 
PATIENT 
ENROLLMENT
July | 2018
IN THIS ISSUE:
• Registry Enrolment Metrics
• Site Activity Metrics
• Focused Data Collections
(Completed & Upcoming)
• Case Report Form (CRF)
Changes
• Pregnancy Sub Registry &
Lactation Studies
• Data Entry Clarification/Tips
• Miscellaneous: Clinical Trials
versus Registries
SITE ACTIVITY METRICS
Global

EMEA LATAM

We are heartened to report that Registry

sites have shown consistent activity in the
effort to enter data over the last 12 months.
The charts display percentage of sites, both
globally and in each of the four regions, by
periods of their most recent activity. About
80% of sites globally were active in the past
one year and 65% of sites were active in the JPAC/Asia N.Am
last six months.

Given the registry’s observational nature, all

enrolled patients should continue to receive
standard of care as determined by their
physicians. Sanofi Genzyme encourages all
participating sites to enter the available data
from clinical assessments performed on their
patients, based on real-world clinical
practice.

12 6

Over 900 sites Participation 80% of sites globally 65% of sites globally
enrolled in the across 64 are active in the past are active in the past
Registry countries globally one year six months

Legend:
(1) Active sites are defined as site, which at least one data point has been
entered for at least one patient in the last 24 months on a clinical form,
including Pregnancy sub-registry.
(2) Graphs display the number of active sites for the past 12 month period
ending as of June 22, 2018.

Dione & Parents | Pompe Disease | Brazil
COMPLETED PROJECTS
The Gaucher Registry recently
completed an FDC for Malignancies
and Gammopathies in January 2018.
New Case Report Forms for these
parameters were added to the Gaucher
Registry in June 2017. The goals of the
FDC include:
• Confirmation of patients that have
never been diagnosed with a
malignancy or gammopathy
• Retrospective data on patients that
have been diagnosed with a
malignancy or gammopathy
• Retrospective laboratory testing
data for patients ever diagnosed
with Monoclonal Gammopathy of
undetermined significance (MGUS)
and/or Multiple Myeloma (MM)
Between June 2017 and January 2018,
over 1,400+ patients had data entered
into the Malignancies and
Gammopathies Assessment CRF.
Sanofi Genzyme encourages all sites
to continue data entry as they will be
used in ongoing and planned analyses.
FUTURE PROJECTS
Both the MPS I and Pompe Registries are planning FDCs for Q4 2018 and 2019. Additional communication to all MPS I and
Pompe Registry sites will be sent after the planned updates to the CRFs are implemented in RegistryNXT! in Q4 2018.
The Pompe Registry completed its
Data Clarification Projects for CRIM
status and Cause of Death which
took place between November 2017
to April 2018.
• 95 of 150 (63%) IOPD patients had
all available data updated and
queries addressed for missing
CRIM status.
• 49 of 82 (60%) patients had all
available data updated and queries
addressed for unknown or missing
causes for death.
“
FDCs do not
serve to remind
physicians how to
care for patients nor
request for a specific
test or assessment to
be performed.
”
FOCUSED
DATA COLLECTION
Thank you to all Registry sites for
the time and effort spent entering
data and addressing queries in 2017
and 2018 data collections. Below is
a summary of the completed,
current, and future FDCs.
ONGOING PROJECTS
The MPS I and Pompe Registries are
currently conducting an FDC for
Unknown or Missing Primary Therapy
Data from May until October 2018.
MPS I and Pompe Registries will be
removing the data entry option of
“unknown” on some CRFs because
unknown data points cannot be used in
current or future analyses. The goal of
the FDC is to minimize unknown or
missing data on the following CRFs:
• MPS I Registry CRFs: Primary
Therapy Status, Primary Therapy –
First Treatment, and Hematopoietic
Stem Cell Transplant (HSCT)
• Pompe Registry CRFs: Primary
Therapy Status and Primary
Therapy – First Treatment
Your Registry representative will contact
your site if you have patients that have
unknown or missing data on these
CRFs. Please contact him/her if you
have any additional questions.

CASE REPORT FORM
CHANGES
In 2017, the MPS I and Pompe
Registries evaluated all of the data
collected on the Case Report Forms
(CRFs) in order to:
•Make data entry more efficient and
effective
•Evaluate assessments that are
important to the disease and
performed and available at registry
sites
•Ensure the data collected meets
regulatory reporting requirements
The MPS I International Board of
Advisors and the Pompe Regional and
International Board of Advisors
reviewed and evaluated the data
collected on the current MPS I and
Pompe Registry Case Report Forms,
and provided the scientific guidance
for all Case Report Form changes.
The MPS I and Pompe Registry CRFs
were finalized in May 2018.
Maintaining data quality assurance is
extremely important to the Registries
and rigorous testing will be performed
for all changes:
Some data will be moved from a
current CRF to a new or different CRF.
Some data will no longer be collected
and will be hidden from view and
archived, not deleted.
The electronic database
(RegistryNXT!) with updates to the
MPS I and Pompe Registry Case
Report Forms (CRFs) is scheduled to
be ready for data entry in Q4 2018
(around October 2018). Global
communication to all MPS I and
Pompe Registry participants with
details of the updates will be provided
in the weeks before the changes are
made.
BACKGROUND
In 2015-2016, to further
guide the evolution of the
Registries in a systematic,
evidence-based manner, a
project was undertaken by
the Rare Disease
Registries. The results of
this evaluation of the
Registries provided data
to inform strategic
changes in what and how
data are collected in order
to address both the needs
of the sites that enter data
and the availability of data
for analyses.
Training will be provided to all sites by
your Registry representative when the
updates are live in the system
(planned for October 2018) through
the beginning of the 2019.
UPCOMING
PLANS
Beginning 2018, the Fabry and
Gaucher Registries are
evaluating the data collected on
the CRFs and following the
same process in collaboration
with their Regional and
International Boards of
Advisors. Updates to the Fabry
and Gaucher Registries are
planned for 2019.
 PREGNANCY
SUB-REGISTRIES
AND
LACTATION STUDIES
Sanna | MPS I Disease | Finland

PREGNANCY SUB-REGISTRY

One of Sanofi Genzyme’s post You can find comprehensive Pregnancy Patients
marketing commitments is to gather Pregnancy Sub‐Registry eCRF Sub-registry Enrolled
additional information and Completion Instructions in the
knowledge on Registry patients who RegistryNXT! Library for each Fabry 89
become pregnant. We are asking for Registry under the Registry
your help to increase the number of Operations Materials section. Gaucher 200
enrolled patients into the Pregnancy
Sub‐Registries. Thank you for your efforts! Since the MPS I 1
last Newsletter in Dec 2017 we have
The Pregnancy Sub‐Registry data had an additional 54 patients Pompe 18
collection is electronic (eCRFs) for enrolled giving a total of 308
Gaucher, Fabry, Pompe and MPS I patients enrolled in the Pregnancy Total 308
Registries in RegistryNXT! Sub-Registry!

LACTATION SUB-REGISTRY
(PHASE IV STUDY)

We would like to remind you that MPS-
I, Pompe, and Fabry have ongoing
Lactation Studies and are open for
enrollment. The objectives of these
studies:
•To determine whether enzyme activity
can be detected in breast milk of
mothers with the applicable disease
who are being treated with ERT during
lactation.
•To measure breast milk production We would greatly appreciate any efforts
and composition in women with the to help with patient enrollment. More
applicable disease who receive ERT information about these studies are
during lactation. available at www.clinicaltrials.gov
•To determine whether ERT affects the
growth, development, and immunologic
response of infants born to mothers MPS I NCT 00418821
with the applicable disease who receive
ERT during lactation. Fabry NCT 00230607
Pompe NCT 00566878

GAUCHER PRIMARY
THERAPY
Clarification to the Gaucher Registry
eCRF Completion Guidelines:
The prescribed dose can be different
than actual dose infused. Please
enter actual dose infused. This
should be captured as U/Kg as the
dose unit, and not the total units
infused. The rationale for this
request is to standardize and have
the ability to directly compare doses
across patients, and this comparison
cannot be completed if we only
receive infused dose across patients
without accounting for the difference
in weight.
Recommendations and next steps:
• Sites should continue to enter
ERT dose as U/kg per infusion. If
the dose in the patient chart is
captured in total units, please
calculate the dose to U/kg per
infusion using the most current
weight available at the time of
infusion.
• If a query is received because
units entered as “other”, answer
the query and update dose and
units as applicable, using the
most current weight available at
the time of infusion. (No specific
timeline/window identified, please
utilize the weight as close as
possible to the infusion date.)
• CRF Guidelines to be updated in
the future to be more specific in
regards to requesting U/kg
• Potential CRF functionality to be
updated in the future to remove
the option of “Other” units
LABORATORY UNITS
Entry Instructions: Please use the
drop down list to select the laboratory
result unit. Ideally, the same unit
should be selected that is reported
on the Laboratory result report.
However, should the specific unit not
be available from the drop down list,
it is preferred to make an appropriate
conversion if you are appropriately
trained, versus selecting “other”.
When “other” is selected as a
laboratory unit, the data is not
analyzable.
ENROLLING DECEASED
PATIENTS
Please note there has been an
update to the guideline for enrolling
deceased patients. The main change
was to include guidance on how to
enroll a deceased patient born after
the IRB/EC approval or IRB/EC
waiver date. For more detailed
information, please refer to the
“Enrolling Deceased Patients v2”
guidance document located in the
RegistryNXT! Library, under
“Guidelines” for each Registry.
DATA ENTRY
TIPS
EDITING SAVED DATA
Data which has been previously
entered and saved occasionally
needs to be edited or updated, due to
a data entry error, new data became
available or for the purpose of
resolving a query. In order to reduce
the number of queries, please
remember to edit the data if a
correction is needed and not add the
corrected data to your response in
the query, which will cause a re-
query.
TO EDIT A DATA FIELD
• Click the pencil icon ( ) to the
right of the data field.
• Indicate the reason for change
using the drop-down menu.
Reason for change can be: Data
Added, Data Entry Error or Query
Resolution.
• Edit the data and click SAVE.
TO EDIT MULTIPLE FIELDS
• Click the pencil icon ( )at the
top right of the screen
• Indicate the reason for change for
each field being edited, using the
drop-down menu.
• Edit any or all of the fields on the
eCRF and click SAVE.
• A small yellow triangle ( ) will
appear to the right of the field that
has been edited to signify “Data
Value Changed”.
 REGISTRIES VERSUS CLINICAL TRIALS
It is important to recognize that a
registry is not the same as a clinical
trial. Clinical trials are considered the
gold standard for drug development.
The structure increases the
confidence that patients are managed
and treated in an unbiased and
consistent manner. However, it has
become increasingly evident that
clinical trials cannot answer all of the
critical questions about disease
progression and treatment effect. It is
necessary to expand research into the
real-world where the patients are not
selected based on strict criteria and
can be followed for an extended
period of time. Clinical trials cannot
typically continue for 10 or more years
or include thousands of diverse
patients based on program
requirements and costs.

Contact us at: rarediseaseregistries@sanofi.com

Disclaimer: This newsletter is intended only for healthcare
professionals participating in Sanofi Genzyme Rare Disease
Registries