National ALS Biorepository Reoprt

SUMMARY REPORT
CONTRACT NO. 200-2011-40830
SEPTEMBER 22, 2015

MCKING CONSULTING CORPORATION | 2900 CHAMBLEE TUCKER ROAD, BUILDING 10, SUITE 100, ATLANTA, GA 30341

Contents
Introduction ..................................................................................................................................... 1
Annual Expert Meetings ................................................................................................................. 1
Options for Long-Term Storage of Biorepository Samples ............................................................ 3
Pilot Study....................................................................................................................................... 3
Study Design ............................................................................................................................... 3
IRB and OMB Approvals ........................................................................................................... 4
Sample Collection Methods ........................................................................................................ 4
In-Home Biospecimen Sample Collection.............................................................................. 5
Postmortem Tissue Collection ................................................................................................ 5
Recruitment and Sample Collection Results............................................................................... 6
In-Home Biospecimen Results ............................................................................................... 7
Postmortem Results ................................................................................................................ 9
Recommendations ........................................................................................................................... 9

Summary Report ⧫ National ALS Biorepository Pilot Study
Contract No. 200-2011-40830

Introduction
A bill to amend the Public Health Service Act to provide for the establishment of an
Amyotrophic Lateral Sclerosis (ALS) Registry (S. 1382: ALS Registry Act) was signed into law
on October 10, 2008 by President Bush and became Public Law No: 110-373. The National
ALS Registry was developed using existing national administrative data from the Centers for
Medicare and Medicaid Services (CMS), Veterans Health Administration (VHA), and Veterans
Benefits Administration (VBA). In addition, a self-registration component was deployed in
October 2010, which allows persons with ALS (PALS) to self-register into the National ALS
Registry through a secure web portal.
Although ALS was first described in the 1800’s, little is known about the causes of ALS or how
to treat it. There is only one medication for ALS which extends life only a few months. Most
“treatment” resolves around supportive care including percutaneous endoscopic gastrostomy
(PEG) or feeding tube, ventilatory assistance, motorized wheel chairs, and occupational/physical
therapy. More information about possible exposures and genetics are needed to move the
understanding of ALS forward as stated in the second purpose of the Public Law creating the
National ALS Registry: “examine appropriate factors, such as environmental and occupational,
that might be associated with the disease.” In many instances this requires biologic specimens.
In order to have biologic specimens available for researchers, a biorepository is necessary. The
National ALS Registry is the largest cohort of ALS patients in the United States. Although there
are other biorepositories, many are limited by clinical practice or treating physician or eligible
group, e.g. veterans. Therefore the National ALS Registry is the ideal group in which to collect
biologic specimens on a large representative group of persons with ALS in addition to the
epidemiologic data currently being collected. The combination of epidemiologic data and
biologic specimens/data on such a large group of ALS patients from all over the United States
would make it an invaluable resource.
In 2011, McKing was awarded a four year contract by the Agency for Toxic Substances and
Disease Registry (ATSDR) to create a biorepository of specimens from persons with ALS
enrolled in the National ALS Registry and to conduct a pilot effort of two collection types
(blood, urine, hair, and nail clippings) from 300 living ALS patients along with postmortem
retrieval (brain, spinal cord, cerebrospinal fluid (CSF), bone samples, and muscle sample) in up
to 30 deceased ALS patients. Additionally, a complementary contract was awarded by ATSDR
with the purpose of testing the feasibility of development fibroblast cell lines from postmortem
skin samples. While McKing retrieved the skin sample as part of its postmortem tissue
recoveries, the results and findings of the work to develop cell lines is not included in this report.

Annual Expert Meetings
Throughout this project, McKing activities were guided by the Biorepository Expert Panel. On
an annual basis, McKing gathered experts in neurology, biorepositories, laboratory science, and
epidemiology to provide recommendations for future activities as well as provide feedback on
McKing’s activities. Full summary reports of these meetings were submitted to ATSDR within
4 months of each meeting and can be found on the National ALS Registry website.
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Year 1: Input into Pilot Study Protocol. The first Annual Expert Panel meeting was held in
March 2012 and gathered input for developing the pilot study protocol. Before the meeting,
McKing conducted a literature review to identify existing ALS biorepositories and the current
research trends among ALS researchers. Based on this information, McKing presented
recommendations on what samples to collect, how these samples could be used in research, and
how many samples to collect. Following the presentations, a facilitated discussion was held to
develop final recommendations on what samples to collect and how many. The final Expert
Panel recommendations were to enroll at least 300 participants for in-home specimen collection
from living participants which would include blood, urine, hair, and nail samples. Saliva would
be collected from those that could not provide a blood sample. Recommendations were made to
collect some of the blood using metal-free materials to allow metals testing to be completed in
the future. There was also a strong interested in obtaining multiple collections from each
participant; therefore, it was decided to conduct two collections from each participant six months
apart. The Expert Panel also recommended the collection of tissue samples that would be best
collected from postmortem donors. These samples included the brain, spinal cord, CSF, bone
sample, and muscle sample. The Expert Panel had a strong interest in the development of
fibroblasts from skin samples.
Year 2: Biorepository Governance and Sharing of Samples. The second Annual Expert Panel
meeting was held in February 2013 and focused on the development of guidelines for the
governance and sharing of samples collected through this pilot study. McKing presented draft
guidelines for how researchers would apply for samples and for a scientific review of these
applications for samples. These guidelines were based on the National ALS Registry’s review
process for researcher requests to notify individuals who participated in the Registry through the
self-registration portal about a research study. Following the presentations, a facilitated
discussion was held to provide input in the development of the guidance document. The
following recommendations were made by the Expert Panel.
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Both domestic and international researchers conducting ALS related research should be
able to request samples
The scientific review of applications for samples would determine what analyses are
appropriate for the samples available
ATSDR should make future announcements about availability of the samples following
the end of the pilot study.
Applications for samples should include a summary of the protocol, IRB approval or
exemption, and preliminary data related to the proposed assays and/or available statistical
data
A Materials Transfer Agreement (MTA) should be signed by the researcher prior to
receipt of samples and should include that researchers are required to acknowledge the
sources of samples in abstracts and manuscripts, submit an annual progress report which
includes information on presentations and publications, submit results to ATSDR, and
return remaining samples at the end of their project.

Year 3: Project Update. The third Annual Expert Panel meeting was held in August 2014
directly following the National ALS Registry Annual Meeting. This meeting presented the
current status of the Pilot Study including enrollment numbers, collections completed, challenges
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and problems faced to date and solutions that were implemented. Presentations were made by
McKing and its key partners. Based on discussions at this meeting, McKing worked with
laboratory experts and our laboratory to develop quality assurance testing for a sample of
specimens already collected and future specimen collections.
Year 4: Presentation of Project Outcomes. The fourth Annual Expert Panel meeting was held
in March 2015. The primary purpose of this meeting was to present preliminary data from the
Pilot Study and discuss recommendations for long-term implementation of a National ALS
Biorepository. The meeting was held in advance of final data being available in order provide
preliminary recommendations on long-term implementation so that ATSDR could potentially
move forward this fiscal year with a new solicitation for long-term implementation. Following
the presentation of project findings, McKing presented its preliminary recommendations on longterm implementation. These recommendations were discussed among and voted upon by the
Expert Panel members. The final recommendations made by the Expert Panel are included in the
Recommendations section of this report (page 9).

Options for Long-Term Storage of Biorepository
Samples
In Year 3 and 4 of the contract, McKing conducted an assessment of specimen storage options in
order to provide recommendations to ATSDR on long-term storage of the specimens collected
through this pilot study. McKing collected information on biorepository standards and spoken
with other government biorepository programs to understand how they maintain and distribute
their samples, and spoke with private and public biorepository programs to better understand the
types of facilities and services that would be available to ATSDR. There are two main options
available to ATSDR for long-term storage of biorepository samples: 1) the CDC/ATSDR
Specimen Packaging, Inventory and Repository (CASPIR) and 2) private biorepository facilities
in academic institutions, private for-profit companies, and non-profit organizations. Based on
information gathered through interviews with representatives of CASPIR and private repository
facilities, McKing recommends that ATSDR continue storage of the National ALS Biorepository
specimens in private repository facilities. This recommendation applies to both the biological
specimens (blood, urine, hair, and nails) and the postmortem tissues (brain, spinal cord, CSF,
muscle, bone, and skin for fibroblast cell lines). McKing’s final report to ATSDR on long-term
storage recommendations was submitted in March 2015.

Pilot Study
In the following section, we present a discussion of the Pilot Study methods from protocol
development to specimen collection.

Study Design
The Pilot Study included two specimen collection components: biological specimens from living
participants (in-home) and postmortem specimens. The in-home component aimed to enroll
approximately 300 participants, from whom specimens would be collected on two occasions,
approximately six months apart. The postmortem component aimed to enroll 30 participants,
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who could also participate in the in-home study. In-home collection included blood, urine, hair,
and nails. The postmortem collection included the collection of brain, spinal cord, CSF, muscle,
and bone. Skin specimens for the creation of cell lines was added part way through
implementation of the study.
The Pilot Study was designed to include both individuals specifically recruited to participant and
individuals who voluntarily contacted McKing about their interest in participation. To be
eligible for the Pilot Study, prospective participants must have been enrolled in the National ALS
Registry. The participants in the Pilot Study may not have been representative of ALS patients
nationally or of those who enrolled in the National ALS Registry. To assure geographic
representation, potential participants were selected for the biospecimen portion of the Pilot Study
by state in proportion to state population.
Persons participating in the in-home collection provided informed consent over the phone. There
were additional eligibility criteria for participation in the postmortem collection portion of the
Pilot Study including verification of ALS diagnosis by a neurologist, evaluation of capacity to
consent, and evaluation of family dynamics that might impact a successful donation. Once
eligibility was confirmed, those participating in the postmortem collection were visited in their
homes and provided informed consent in person. Family members were asked to sign a family
authorization form confirming his/her commitment to support and carry out the participant’s
decision for postmortem tissue donation. When skin specimens were added to the tissue types
collected postmortem, a consent addendum was created and approved by the IRB. Participants
who consented to participate before the addition of skin specimens were contacted about
participating in this additional specimen type and asked to provide informed consent over the
phone. For all parts of the consent process that took place over the phone, the participant
returned a signed copy of the consent form to McKing before any study procedures took place.
Participants were provided a copy of the signed consent form for their records.

IRB and OMB Approvals
This study required IRB review and approval for the protection of human subjects. McKing
worked with Western IRB (WIRB), an independent IRB, to conduct IRB review for this project.
WIRB reviewed and approved the research and was the IRB of record for this study. McKing
requested an Exemption from OMB Paperwork Reduction Act (PRA) review for the Pilot Study,
Exemption Category 5 CFR 1320.3(h)(5) sometimes referred to as a Clinical Exemption. The
information collected for the Pilot Study was limited to the minimal necessary for the
interpretation of biological analyses of body fluids, tissues, or other specimens, or the
identification or classification of such specimens. Based on this limited scope of information
collected for the Pilot Study, the exemption was approved.

Sample Collection Methods
The methods for specimen collection, processing, and storage procedures differed between the
two parts of the Pilot Study.

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In-Home Biospecimen Sample Collection
Specimen collection for the blood, urine, hair, and nails was completed in the participant’s home
by a trained phlebotomist. Specimens were shipped overnight to the laboratory to adhere to the
24 hour window for receiving and processing. The phlebotomists were responsible for returning
the completed kit to a FedEx shipping center. Upon arrival at the laboratory, the specimen
collection kits were inventoried to determine which samples were collected, data from the
TrekView temperature logger was downloaded, hair, nails, and PAXgene tubes went directly to
long-term storage, and the rest were transferred to the appropriate lab for processing. Oragene
kits were also transferred to long-term storage without processing. The three remaining tubes of
blood and the urine were processed and split into aliquots prior to freezing and storage.
Following the third expert panel meeting held in August 2014, McKing developed a specimen
quality assurance plan and conducted quality assurance testing on a portion of specimens – both
retrospective and prospective. Although most assays have quality assurance measures built in, it
is more difficult to identify quality assurance measures for specimens when the future use is
unknown. Based on input and guidance from laboratory experts, we decided to extract DNA
from a sample of specimens, genotype the DNA, and compare it to our records of sex. As a
marker of cell lysis, we tested a sample of serum and plasma samples for hemoglobin. All kits
included a TrekView temperature logger to assess the ambient temperature from collection to
delivery at the laboratory. Temperature results were monitored throughout the study.
A specimen collection form designed for the Pilot Study captured key data needed by the
laboratory and researchers. The completed form was returned in the collection kit. All data
collected on the Specimen Collection Form was entered into a separate database that has been
submitted along with the final specimen inventory at the end of the contract.
Second collections occurred approximately six months after the first collection. Once the
collection was scheduled, the process for scheduling and completing the collection was the same
as the first specimen collection.
Postmortem Tissue Collection
For a majority of participants, McKing developed an individualized tissue recovery plan for each
participant within 60 days from his/her consent to participate. However, some participants were
not ready to make funeral arrangements and donation plans were incomplete until the participant
and his/her family selected a funeral home.
The tissue collection plan used by McKing and NDRI included: 1) family primary point of
contact (name and contact information); 2) information on funeral plans (name and contact
information for funeral home); 3) name and contact information for transportation of the
participant’s body to and from donation site; 4) name and contact information for the diener who
would harvest the tissues; 5) tissue collection site and contact information; and 6) name and
contact information for backup diener in case the primary diener was unavailable at the time of
the participant’s death. The family was provided a toll-free, 24/7 phone number to call when the
participant died. The completed donation plan was shared with the participant to ensure his/her
family knew the process, points of contact and organizations involved in the donation process.

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McKing maintained contact with all participants until death in order to monitor the progression
of their disease. Participants or his/her family was contacted once every three months via phone
or email. As the participant’s disease progressed and he/she appeared closer to death, McKing
increased the frequency of contact with the participant or his/her family.
Once the participant died, the body was transported to the designated tissue collection site. The
goal was to complete all collections, return the body to the funeral home, and deliver specimens
to the laboratories within 48 hours of death. A local diener was contracted to complete the tissue
recovery using standard collection procedures which usually took two to three hours. Brain,
spinal cord, and CSF were packed into the specially designed collection kit and delivered by
courier to the nearest airport for shipment to our Brain Bank. Muscle and bone specimens were
deposited in separate formalin-filled vials and were shipped to our primary laboratory. Skin
specimen was deposited into a separate vial and shipped to cell line fibroblast contractor.
The brain, spinal cord, and CSF were processed and stored according to procedures already in
place for the VA ALS Brain Bank. The muscle and bone samples did not undergo any further
process and are stored as whole sections at our laboratory. The skin processing and fibroblast
cell line development took place under another contract and results of that activity are not
included in this report.

Recruitment and Sample Collection Results
The following section presents the results from the Pilot Study including results of recruitment
and separate sections for the biospecimen collections and the postmortem collections.
Recruitment. Recruitment included multiple emails and telephone follow-up of potential
participants. There were 1078 emails sent from ATSDR to fourteen groups of potential
biospecimen participants. Most groups received three emails from McKing. There were a few
groups that received four McKing emails after the protocol was amended and approved by the
IRB for a 4th email. The last group did not receive a fourth email from McKing because we the
IRB approved study size had been reached (Figure 1). Four hundred sixty-five biospecimen
information packets were sent to 458 interested individuals.
One hundred and forty-one emails were sent from ATSDR to six groups of potential postmortem
participants. Fourth emails were sent from McKing to the last two mailing groups of postmortem
potential participants after the protocol was amended (Figure 2). There were 141 postmortem
information packets sent to 97 interested individuals.
Participants. Three hundred and thirty-nine individuals provided consent to take part in the Pilot
Study, 202 (59.5%) male and 137 (40.5%) female. Of the 339 biospecimen participants, 221
(64.8%) were recruited and 118 (35.2%) were volunteers. Nine of the 339 participants were
unable to schedule an appointment, resulting in 330 participants completing at least one
specimen collection.
Thirty individuals provided consent to take part in the postmortem part of the study. Of the 30
postmortem participants, 5 (16.7) were recruited and 25 (83.3) were volunteers. All 30
postmortem participants provided consent for the overall donation of brain, spinal cord, bone,
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muscle, and CSF). In addition, 27 of the 30 the postmortem participants provided consent for
skin sample collection. Three participants did not provide consent for skin sample collection
(one died before skin sample collection was added to the protocol, one refused, and one died
before the signed skin consent form was received).
In-Home Biospecimen Results
Geographic Distribution. The distance from any MDA and/or ALSA referral center to each
participant’s residence ranged from 1 to 750 miles. The participants that live in Hawaii or
Alaska are more than 2000 miles from a referral center because there are no referral centers in
their states. More than half of all of the participants live 50 or more miles from a referral center.
We collected specimens from at least one person in each state.
MAP OF IN-HOME PARTICIPANTS

Legend:
≥3
2
1
Specimen collection. There were 330 participants who completed first specimen collections.
Three hundred and eleven participants provided at least one vial of blood and 19 were unable to
provide any blood for the first specimen collection.
There were 272 participants that completed second specimen collection. Two hundred fifty-five
provided at least one vial of blood and 17 were unable to provide any blood during the second
specimen collection. Fifty–eight of the participants who had a first specimen collection did not
have a second specimen collection. The reasons for not completing the second draw included
death (36), too ill or unable to contact (9), and no longer interested or scheduling difficulties
(13).
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Three hundred and twenty-one participants provided at least one blood specimen and 15
provided a saliva sample. Nine participants were unable to provide any blood; however, eight
provided hair samples, nine provided nail samples, nine provided a urine sample, and four
provided a saliva sample.
Most participants were able to provide specimens at both collection appointments. The following
table shows the number of participants with specified sample pairs.
NUMBER OF SPECIMEN TYPES COLLECTED
Specimen type
Whole Blood (Plasma,
Buffy Coat, RBC)
Whole blood (metals free)
Plain blood (serum)
PAXgene 1 (RNA)
PAXgene 2 (RNA)
Urine
Hair
Nails
Saliva

No. participants
st
(1 collection) N=330
309
308
302
303
303
321
310
326
15

No. participants
collection) N=266
255

nd

(2

248
246
248
247
256
264
271
0

In-Home Biospecimen Quality Assurance Results. We selected 175 participants’ blood
samples to undergo quality assurance testing. The samples selected were distributed throughout
the study period and were taken from both first and second collections.
Of those selected, there was an appropriate specimen for DNA analysis for 174 participants. We
were able to obtain DNA from all the specimens and all genotyping matched our records for sex
of the participant. Currently most assays using DNA require less than 2 μg and all excess DNA
was frozen for future use. Eighty-two percent of the specimens yielded at least 50 μg DNA and
60% yielded at least 100 μg DNA.
The ratio of absorbance at 260 nm and 280 nm (260/280 ratio) is used to assess the purity of
DNA. A ratio of 1.8 is generally accepted as “pure” for DNA and is the industry standard for
DNA that can be used in downstream applications such as PCR, DNA Sequencing. Ninety-eight
percent of the samples tested met the industry standard for 260/280 ratio.
Free hemoglobin was measured in both serum and plasma. A temperature logger was included
in all collection kits to monitor the ambient temperature from collection to delivery at the
laboratory. Temperature results were monitored throughout the study and based on high
temperature reports during collections in summer 2013, shipping procedures were changed to
include a chilled gel pack rather than a room temperature gel pack in the returned collection kit.
Following this change in procedure, we did not have any further high temperature readings.
The overall quality assurance testing showed that the specimens were generally of good quality.
However, not all specimens will be appropriate for all analyses. It will be important to work
with researchers to determine their assay specific specimen requirements so that this information
can be used to identify the appropriate specimens for their study
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Postmortem Results
Geographic distribution. The distance from postmortem participant’s residence to MDA and
ALSA referral centers ranged from 1 to 365 miles. More than half of the postmortem
participants lived 50 or more miles from a referral center.
Deceased participants. Fifteen postmortem participants have donated specimens as of
September 22, 2015. The length of time in the study for these participants from date of providing
informed consent to date of death ranged from 1-22 months. As of September 22, 2015 the
length of time in the study for participants that are still living, ranged from 18-24 months. The
age at death for the deceased participants ranged from 43-76 years of age. Two additional
participants are deceased but withdrew from the postmortem part of the study and did not
provide postmortem donations. However, these participant did take part in the biospecimen part
of the study.
Specimen collection. Fifteen postmortem participants provided brain, spinal cord, CSF, bone
and muscle specimens. Skin samples were obtained from 13 participants.

Recommendations
Upon completion of the Pilot Study, McKing has proven that nationwide collection of
biospecimen and postmortem samples from PALS is feasible and can be done in a cost-effective
manner. The Expert Panel that we convened in March 2015 recommends that ATSDR continue
to collect biospecimen and postmortem samples for the National ALS Biorepository. Based on
our experiences and lessons learned from the Pilot Study, McKing recommends the following
changes to procedures and samples collected.
Recruitment. As previously discussed, McKing experienced a slow start to recruitment and then
often did not have any response from the multiple recruitment emails that were sent to
participants. We feel that this was due to the separation of enrollment in the National ALS
Registry and contact to introduce the opportunity to participant in the National ALS
Biorepository. In order to better connect these activities, we recommend that PALS are given an
opportunity to indicate their interest in participating in the National ALS Biorepository as they
complete the initial enrollment into the National ALS Registry. Individuals already enrolled
should be notified of the opportunity to participate in the biorepository. This will also give
ATSDR an opportunity to collect additional contact information, such as phone number and
physical mailing address, in order to follow-up with interested enrollees. McKing recommends
that ATSDR continue to select a geographic representative sample of interested enrollees to
participant in the National ALS Biorepository. Based on interest in participation during the Pilot
Study and the approximate number of enrollees into the Registry each year, McKing
recommends collecting biospecimen samples from 500-600 individuals per year and consent up
to 30 interested participants each year for postmortem tissue donations.
Biospecimen Collection and Processing. In March 2015, the Expert Panel extensively
discussed the type of samples and what processing and quality assurance testing should be done
with the specimens collected. The recommendations of the Expert Panel included:

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

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Continue blood collections
o Conduct only one collection per participant
o Discontinue the metals-free collection (if there is a high demand for metals-free
collection, re-start metals free collections)
o Include a blood tube to allow for the creation of cell lines from blood rather than
from postmortem skin fibroblast
Extract DNA and RNA from blood tube during initial processing of specimens
Continue urine collection
Discontinue hair and nail clippings (if there is a high demand for hair and/or nail
clippings, re-start this collection)
Continue saliva collections for those that have difficult blood draws
Expand saliva collections to individuals not selected for a biospecimen collection to
increase the number of DNA samples the Biorepository receives
Conduct quality assurance testing of the biospecimen samples during initial processing

The Expert Panel also recommended that ATSDR conduct regular market research to determine
what type of specimens ALS researchers are interested in using based on current research and
technology. This research should drive what types of samples are collected and how they are
collected. In future years, ATSDR will be able to analyze the demand for samples in order to
determine what specimens should be collected each year.
Post Mortem Collections. At the March 2015 Expert Panel meeting, the post mortem
collections were also extensively discussed. The Expert Panel strongly recommended that
ATSDR make arrangements to follow through with postmortem collections for participants in
the Pilot Study but who are still alive at the end of the McKing contract. At the time, we
estimated this may be 10-15 participants. For future postmortem collection, the
recommendations of the Expert Panel included:
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Continue the brain, spinal cords and CSF collections, including the metal-free CSF
collection
Continue to analyze and process the brain, spinal cord and CSF to match the procedures
of the VA ALS Brain Bank
Discontinue the muscle and bone collection; however, if there is a high demand for the
muscle samples, re-start this collection
o If the muscle collection is continued, freeze samples instead of storing samples in
formalin and collect one muscle sample from each extremity instead of the one
sample from the back
Discontinue skin collections for fibroblast development, develop cell lines from blood
draws instead

Marketing of the National ALS Biorepository. The most important aspect of the National ALS
Biorepository is its ability to share samples with researchers to further research investigating risk
factors for ALS and potential new treatments for ALS. The Expert Panel discussed at length, the
need to market and promote the availability of samples through the National ALS Biorepository
to researchers across the U.S. Those experienced in running biorepositories emphasized the need
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for a catalogue of samples included in the National ALS Biorepository that would be easily
accessible to researchers. It was also recommended to cross-promote the National ALS
Biorepository with other ALS biorepositories, such as NEALS and the VA, to encourage
researchers to use samples from all ALS biorepositories.
Distribution of Samples McKing also recommends that the distribution of samples be merged
into operations of the collection process as one Biorepository program. If ATSDR elects to
contract out the collection process, that contractor should also facilitate the review of
applications for samples, manage the sample inventory, and distribute the samples to ATSDR
approved researchers. This will allow for the sample inventory to be up-to-date at all times.
Along with this, the organization that is managing this process should also be available to
researchers to answer questions or assist them with refining their applications based on the types
of samples available through the National ALS Biorepository. At the Year 2 Expert Panel
meeting in February 2013, it was recommended that ATSDR charge a nominal fee to researchers
for samples to cover the cost of retrieving and shipping of specimens.
Along with the specimens, researchers should receive data that can be used to assess the quality
of the specimens such as the time elapsed from collection to processing of biospecimens and if a
high temperature alarm occurred during the shipping of the biospecimens. For post-mortem
tissues, data to be provided should include the RNA Integrity Number (RIN) and the elapsed
time from death to processing of the tissues. Researchers should also receive standard data about
the participants. This should include the age at diagnosis, age at death, sex, and state of residence
and if available race, family history of ALS, family history of other neurodegenerative diseases,
ALS FRS closest to collection, age at first symptoms, and survival time. Therefore, ATSDR
should prepare this limited dataset ahead of time to be able to provide this information with the
samples. In addition, in order to be able to quickly prepare requested epidemiologic data to
accompany samples, ATSDR should prepare a data file that contains all survey data for the
individuals that participated in the Pilot Study. If ATSDR elects to continue the biorepository,
adding the limited data to the file should occur on a monthly basis. Addition of the survey data
should occur yearly as the data are cleaned and finalized.

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