Battens.org.au




The Australian Chapter of Batten Disease Support and Research Association Inc. -
Australia/ New Zealand
Dear families, friends and members, Into the New Year we go. The BDSRA has had a change of face with a new logo. As most of our literature was newly printed last year, you may see the 'old' and the 'new' in 2014. Please get behind the National Batten Disease Awareness Day on 31st March with plenty of ideas in this issue of how you can help. Just one passionate deed will inspire a flow of others—like an old saying "if you have two pennies, give one away". Vanessa and the BDSRA, Australian Chapter. BDSRA FOCUS
Family Support Program: The next Battens Family Meeting is due
Inside this issue:
to take place on Friday, 10th October to Monday 13th October on the Central Coast of NSW at Camp Breakaway—a venue set up suitably for persons with disabilities and space for our group to spread out. You may have received an invitation with registrations encouraged ASAP. Please don't hesitate to contact if you would Research Update— like to discuss any aspect of the Meeting or the logistics of travel- worldwide & locally ling there. The venue does have a limited accommodation but ac-commodation close by is an option for some. Information Sharing Sign-up for Workplace Donations: Workplace giving is the most
cost effective way for a Charity to receive donations and provides
fundraising continuity for the Battens cause. The BDSRA re-
Membership Appeal & cently formed an agreement with Charities Aid Foundation who will Workplace Giving assist us (and you) to manage staff related donations. If you would Awareness Day 31st like to introduce this option to your employer (or simply to donate regularly yourself), please email me for supportive communication Upcoming Fundraisers for your employer. This low level regular giving can be as little as $5 donated from you pay, which together with other staff donors, could provide sustainability for the Batten Disease cause. make the Donations Made & world of difference in our fundraising endeavours. More informa- Past Fundraisers tion on this, further in the newsletter. Representation for Battens: The BDSRA is seeking to participate
in the Better Health for Kids (BH4K) research network. Initially in
March, myself and another parent couple will attend a workshop at the Sydney Childrens Hospital that will provide information about consumer involvement in health and medical research. It is our hope that we can advocate for Battens, to network with Community Groups and collaborate with Researchers. If you are interested to be involved also, contact me. ARBN 073 435 202
ABN 56 0256 138 994


Research & Services
Updates — Programs locally
A National Rare Diseases Plan will provide us access to information, support and clinical trials. It will
support our doctors and specialists to provide the best care possible. A National Rare Disease Plan will
pave the way for Australians to lead the best possible lives. Many countries are recognising the need to
develop a rare disease policy and the need to recognise Rare Diseases as a national health priority. A sig-
nificant difference could be made to Australian families who are affected by developing a National Rare
Disease Plan. The Federal Government funds treatments and therapies via the PBS (Pharmaceutical Bene-
fits Scheme) which most are familiar with.
The Life Saving Drugs Program (LSDP) will be undergoing a Post Market Review. Currently the LSDP
funds 10 treatments for 7 rare conditions. Patients must meet an entrance criteria to enable them access
to these therapies. The program was set up in 1995 on the back of an Act of Grace as a means of provid-
ing much needed treatments to those living with very rare conditions. The program is carefully managed
with advisors for each specific condition listed. Read more at www.rarevoices.org.au The NSW Government is supporting people with disability, families and carers to prepare for the National
Disability Insurance Scheme (NDIS)
by investing in ‘Getting Prepared'. This program will deliver eight
capacity building projects between now and 30 June 2015. The projects are supporting people across the
state to:
· learn about how NSW is transitioning to the NDIS; · develop their skills to participate confidently in individualised arrangements; and · connect and share with other people with disability, families and carers. More information about ‘Getting Prepared' and the eight projects currently being run is available on Updates — Research worldwide
StemCells, Inc. announced in October, 2013 the re-
sults of a four-year observation study in patients Researchers at the National Institutes of Health
with neuronal ceroid lipofuscinosis (NCL) who had (niH) announced in October, 2013 the identification
been transplanted with the company's HuCNS-SC of a potential new drug derived from hydroxyl- cells (purified human neural stem cells) in the initial amine, a molecule chemically similar to ammonia, Phase I study. called NtBuHA, which researchers hope will be use- The study results represent the first, and only, ful in the treatment of infantile Batten disease. multi-year data set of patients after the use of stem Researchers found after testing a panel of chemi-cells in human subjects. Six patients with Batten dis- cally modified hydroxylamines that the derived ease were enrolled in the company's Phase I clinical NtBuHA could mimic PPT1 in cultured cells from in-study and followed for twelve months after the fantile Batten patients, preventing the waxy build- transplantation of stem cells. According to co- up but without the toxic effects of hydroxylamine. principal investigator Nathan Selden, MD, PhD, The study tested the drug in mice with Batten dis- FACS, the study's outcome shows there were no ease and found it slowed the loss of coordination long-term safety or tolerability issues associated and extended the animals' life span. with the cells, the immunosuppression regimen or The full research study reported was published in the surgical procedure over the five years following the journal Nature Neuroscience. The full details are the stem cell transplants. Three of the six patients in available online at the study have now survived more than five years post-transplant, and each have stable quality of life measures, according to Selden. For details of the full report go to www.bdsra.org .


Research worldwide —continued
Research studies and Clinical trials for Batten disease Continue to Recruit Patients Research studies led by the Department of Genetic Medicine at Weill Cornell Medical College in New York City, by the University of Rochester Batten Center, and by pharmaceutical company BioMarin continue to seek patients to enrol and participate in three major investigations: BioMarin has launched a Phase I/2 clinical trial to determine the safety and efficacy of rhTPP 1 (BMN 190),
an enzyme replacement therapy for the treatment of children with Late Infantile CLN2 disease. BMN 190 is a recombinant human TPP 1 enzyme in development by BioMarin as an enzyme replacement therapy for CLN2 pa- tients. Patient inclusion criteria include diagnosis of CLN2 disease, and mild to moderate disease documented by two domain scores of 3-6 on motor/gait and language domains of the Ham- burg scale with a score of at least one point in these two domains, and seizures are stable. Patients who have received stem cells, gene therapy, or enzyme replacement therapy are not eligible for the study. Patients en- rolled in the study follow a 12 month protocol of treatment. The primary study objectives are to evaluate the safety and tolerability of BMN 190 administered to patients with CLN2 and to evaluate effectiveness using a CLN2-specific rating scale score in comparison with natural history data after 12 months of treatment. The study sites are currently in Germany and the United Kingdom. Updates and study information are available at www.clinicaltrials.gov. For enrolment information, contact Janet Nuttall at BioMarin at jnuttall@bmrn.com or email clinicaltrials@bmrn.com The department of genetic Medicine at Weill Cornell Medical College in New York City is conducting
a gene therapy study for the CLN2 gene. Patients with the diagnosis of late infantile neuronal ceroid lipofusci-
nosis who score between a 6 and 10 on the LINCL scale in the early stages of the Batten disease are eligible
for the study. If eligible, the patient would be enrolled in the gene transfer protocol for a total of 18 months.
The purpose of the study is to determine whether gene transfer surgery, in which an experimental drug called
AAVrh.10CUhCLN2, is administered to the brain, can be achieved safely and whether the procedure will slow
down or halt the progression of the disease. The study includes a 2 day screening visit to assess eligibility.
The study site is located in New York City. For enrolment information, contact Denesy at the Department of Genetic Medicine at dem2026@med.cornell.edu or call (646) 962-4537. The university of Rochester Medical Center is currently recruiting subjects with JNCL for a clinical
trial to learn if mycophenolate (CellCept) is safe and well tolerated in children with Juvenile Neuronal Ceroid
Lipofuscinosis. The JUMP study focuses on evaluating CellCept and its effects on the symptoms of JNCL.
These symptoms include unusual movements, seizures, problems with learning or behavior, or difficulty per-
forming daily tasks. To be eligible for the study, which lasts 22 weeks, patients must be diagnosed with JNCL,
must be able to walk 10 feet unassisted, be able to swallow liquid medication, have a local doctor who is willing
to conduct the study, and be able to complete 4 study visits to the University of Rochester Medical Center, 4
visits to a local physician, and 4 visits by telephone. Travel expenses are paid by the study.
Patients enrolled in the study will take mycophenolate syrup twice a day. For enrolment information, contact Amy Vierhile at (585) 275-4762. More information about the University of Rochester Batten Center is avail-able at www.urmc.rochester.edu/neurology/batten-disease-center/ Provided by the BDSRA January Issue Newsletter. You can visit www.bdsra.org for further updates.



Programs and Support
Information Sharing—Equipment
Information Sharing—Respite options Nationally
Commonwealth Respite and Carelink Centres professionals about community aged care services and are run by a wide variety of community organisations support services available locally or across Australia. across Australia. When carers need to take a break from Visit www.health.gov.au caring, Centres can help by arranging respite. They do this by acting as a single contact for information needed Life Without Barriers Disability by carers and by organising respite care for carers. Ex- services include: amples of respite care assistance include:  Supported accommodation in-home respite care; support workers to assist you  Community access and participation when you are taking a break away from home; centre-  Clinical support services  Host family care based day respite; and residential respite care.  Education support  In-home support Commonwealth Respite and Carelink Centres work  Employment services closely with existing community agencies to assist carers.  Case management They are able to identify carers' respite support needs and work to ensure access to services. The Centres also  Transition support provide information for the general public and health Visit Www.lwb.org.au Respite Services Over 550 community-based respite services are delivered to carers and the people they care for in a variety of settings, including homes, day centres, host families and residential overnight cottages.
For information about respite services in your local area and emergency respite support call 1800 052 222.


Fundraising
Could you approach your Employer to be- come a ‘giving' donor and even rally fel- low workers in your workplace/industry? Workplace Giving – What, How, Why?
Workplace Giving is the easy way you can give to your favourite char-
ity to help make an impact – and you get your tax deduction immedi-
ately.
That's the message that surrounds increasingly popular Workplace Giving programs in Australian business as more companies come on board to support their employees with this effective giving process – and in many cases double the donation by matching employees' dona-tions. Workplace Giving allows you to nominate how much pre-tax money you would like your company to take from your pay each cycle and direct it to the charity or charities you support. Because the money is taken from your pay before it is taxed it lowers the amount of tax you pay on that money. In giving something back you help the recipients of the charity you support pay- by- pay building up a much appreciated contribution over Membership Appeal
The 2014/ 2015 Membership Appeal will be occur-ring next month. So what are you waiting for, if you have workplace giving at your com-pany why not contact your workplace giving administrator and start do- Please help the BDRSA and its endeavors by pay- ing your annual membership fees of $25 per family. nating today, or contact Vanessa@battens.org.au if you would like to This small but important contribution assists with the enquire on how to start a program for your employees. costs of publications and brochures to be printed. Here is the Battens Charity link:
You also have the option to donate towards specific programs research-association-1 NATIONAL BATTEN DISEASE AWARENESS DAY: 31ST MARCH
Have you planned something around this special date? Please come on board and think about how we can help build awareness of Batten Disease in our local communities: Perhaps sharing a story with media—we can supply your local paper with a media story; For a full list of great merchandise items and ideas, please visit the website, order a few to sell; Hold a fundraising event with BDSRA support OR any of the above activities — community support is greatly needed. g co inued
Past fundraisers
VIC: In January, David Condy shaved off his 43 year old beard for
Battens and in doing so raised over $2,500. Thankfully no beanies
are needed this time of year?.
Donations made ‘in memory'

In Memory of Chloe

Hampson:

In Memory of Matilda

‘Mums little angel', Jes- Smith-Berger:
Matilda's Classmates in Debra & Glen Hampson P4 Ventura Bus Company In Memory of Bryce
Chris Hugo & Leigh Glenallen School In Memory of Joey
Workplace and On-Line Donations
Workplace Donations:
Regular Donors On-Line:
Shirley Tsui, Debra & Glen Staff at Australian Health Amanda Blakers, Jerome Bell, Hampson, Jessica Page, and Management (Medibank) Anthea Weeks, Dean Apostolou, General donations
Mary & Rod Bryand Margaret Pettigrove Rhyll Dorrington Upcoming fundraisers
Challenge yourself in 2014 and help support Battens at the same time. Attached is the list of
2014 fun walk and/or runs where by putting your comfy shoes on, take the first step, put
your best foot forward, setting up a fundraising page and gaining sponsors, you will help Battle
Battens. At your own pace, soak up the fun atmosphere, maybe wear a Battens T-shirt or
loud outfit and raise us some awareness along the way.

Don't forget-31st March, National Batten Disease Awareness Day

Source: http://www.battens.org.au/sites/default/files/BDSRA%20Newsletter%20Feb%202014.pdf

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