The Australian Chapter of Batten Disease Support and Research Association Inc. - BDSRAAustralia/ New Zealand // July 2012 // Issue 24

National Registered Charity // ARBN 07 343 5202 // ABN 56 025613899

This edition has been such a long time coming! We do apologise for the delay in its production and hope that from now on, the newsletter will once again be- come a more regular mail out. This was a hard task for any volunteer so we have hired a professional! We have so much to get through, we thought that this edition should be dedicated to the amazing fundraising efforts that have been undertaken since July 2011. We are so grateful for all that you do!We’ve looked at some of the research activity that has been going on—it has been such a busy time! If there is a feature you would like to see in each newsletter or if you would like to put a piece in the newsletter, we would love to hear from you. Please email to bdsra@battens.org.au -Vanessa will pass on to Shelley from Rockit Marketing who hasdiscounted her fee for our newsletter production.

BDSRA Focus

Our Family Register shows that the current numbers of children/families throughout Australia currently associated are: QLD: 6 WA: 3 VIC: 7 SA: 2 NSW: 13 NT: 1 NZ: 8

NSW Family Meeting will be held at Camp Breakaway on the weekend of 13th October, final numbers include 10 families. We will be in touch with those families to make further arrangements.

Annual General Meeting 2012 will be held at the NSW Family Meeting, possibly on the Saturday. To be confirmed. BDSRA members are welcome. We discuss current activity and plan future direction for the Australian Chapter and Batten Disease matters.

Memberships: We continue to encourage people to join the association as a member for 2012/ 2013 .Please help the BDSRA and its endeavours by paying your annual membership fees of $25 per family/individual. This small but important contribution assists with the costs of publications, brochures to be printed and many running costs. Send your cheque payable to BDSRA Membership Officer, at 9 Norton Avenue, Killarney Vale NSW 2261. Recent Child Neurology Congress, Brisbane:Representing Battens at this event—read more at the Feature Article, page 4.

Update on Volunteer Projects in the pipeline:A. Health Professional DatabaseCreating a support network for medical persons in need of battens information to contact each other, sharing knowledge and ideas.B. Newly formed Research Committee (read more in the ‘Research’ section of this issue)

Equipment photo-album:We are collecting photos and descriptions of equipment that you have utilised and would like our view on whether they were functional/comfortable etc. Please send to info@battens.org.au

Here is a snapshot of where your fundraising and donations are utilised

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NSWAlanna Gayko: ’Perils of Motorcycling’ salesTaniba Bay Public School: Sold merchandiseCountry Women’s Association, Bellingen: Ongoing Crazy Whist Card gameJaffa By Rob & Allen: Cafe opening dayDeb Dagger & 2Wheel Babes: Babe Raid Motorbike RideNaomi Foster: BBQ BonanzaSally Stewart: Garage SaleSt John Vianney’s Catholic Primary School: Cake Stall

Fundraising ActivityThank you for thinking of a special child that has touched your heart or to

the Batten Disease cause. Together we will make a difference.

VICMichelle Gallea and Bunnings Northland:Held a trivia nightParnell Family: Trivia Night Jessica Olsson: Cricket Day

W.AMarmion Angling & Aquatic Club: Auction NightGreg & Sheryl Smith: Auction NightCraige Baptist: Craft GroupKinross PharmacyMargaret Manuk & the Australian Medical Association

S.A.Lorraine Daley’s: Bubbles Backs Batten’sLorraine Daley’s: Bunnings BBQ

Fun Run/Walk On-Line Events

19th Annual Pub2Pub, NSW: Kate Thomas, Alana Blakers,Vanessa Anderson, Ian Tweedie & team (Raised online $1630)

Marathon Run 4 Imogen, NSW & VIC: Donna Malady(Raised online $3400)

2011 Sun-Herald City2Surf, NSW: Rachelle Potter(Raised online $1226)

Jack’s Journey, VIC: Nicole Sidiropoulos(Raised online $300)

The Sunday Age City2Sea, 2011, VIC: Benita Crocker(Raised online $3217)

The Sunday Age City2Sea 2011, VIC: David Vass(Raised online $1550)

Chevron City2Surf for Activ, WA: Tanya Elson & team(Raised online $7020)

HBF Run for a Reason 2012, WA: Rebecca Taylor(Raised online $1345)

Raising Awareness for Battens/Muddler Challenge VIC: Laura Smith & Simon Berger(Raised online $4370)

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Fundraising ContinuedOther Donations

Brodie & Amanda’s BattleBattens Fund

Cheryl Paige

Helen Horwitz

V&B Robertson

Kate Linnane

Inner Wheel Club of Scarborough

Narrabri Public School

Kieran Massen

DJ Howell & JM Birchyard

Newcastle VintageMotorcylce Club

Claudia Berry

R. Wallace

Maprak (SA)

Australian MedicalAssociation (WA)

Peter Jennings

Niky Alexander

Myles Pritchard

Camille Brinin

Quinns Rock Primary School

Gary Bucknall

Amber Osborn

Anna Perrins

Harvey Martin

S. Gordon

David Smith

Lutz & Associates

Rick Lesniewicz & Lucy

Rotary Club of Hillarys

Shepparton Rotary Club

Nollamara RSL

Kay Darreniza

Keryl Evans

Debbie & Peter Wilkie

Mr John Condon

IW & MG Black

D&C Parnell

G. Russell

Helen Bertram

Wendy Foster

Beverley Schumacher

Mohammad Khan

I&E Yeamen

D&J Yeamen

Gail Foster

Ian Tweedie

Ray Gardiner

PJ & CA Mayers

Jeremy Hart

Craig Wright

Chris Limmer

Ann & Ken Radley

Amira Kay

NCOS (WA)

Brendon Gili (celebratingFletcher Cunliff’s2nd Birthday)

Jodie Hainey

Michael Higgins

Olivia Wright

Janelle Trent

Tatiana Bogeski

Jared Winton

Nicholas Giannasi

Peter Rose

Pennie Charteris

Kayla Schneider

Lisa Sinclair

John Tustin

Bree Somerville

Shauna Trafalski

Maureen Donnell

Gary Fallon

Kim Miller

Sally Ann Funder

Jo Cowell

Linda McLachlan

Aaron Roberts (USA)

Margie Dowling

Alison Freeman

Peter Luckock

Bree Francis(inspired by Shania Smith)

Gavin McGarrity

Regular Donors OnlineAmanda Blakers, Jerome Bell, Anthea Weeks, Dean Apostolou, Shirley Tsui, Geoff Berger

In Memory Of Tahnee GearingJennifer Gearing

In Memory Of Kirsten & Andrew VickersCelebrating The Engagement Of Lauren Vickers &Randy De Punet - Kerry Kelly, Michael, Wendy And LucieWilkinson, Deborah Vardy, Sue & Sam Henderson

In Memory Of Joey WeeksAnthea Weeks

In Memory Of Jordan Anderson:Sandi Herbert, Nancy Rhoades

In Memory Of Isla DoneganTanya Elson & Family

Donations Made In Memory

In Memory Of Mackenzie FosterNaomi Foster, Collective DonationsFrom Friends And Family, Jamie Foster, Kimberlee Summerville

In Memory Of Bryce Colbert-DaleyAnn Hughes, Lorraine Daley, Claire Adams, Gemma Buttle,Amanda Holman, Michelle Enthoven (Dance School)

In Memory Of Mrs Alanah JacksonJackson Family, M&L Walker, Sally & Ken Haywood, C & N Mills,Jill Stewart, Edna Scarlett, Ruth Robertson, Diane Sawley,Pauline Sibley, Mervild/funder Family In Denmark/ England

In Memory of Amanda & Brodie SibleySue & Roger Buckett, Doug & Louise Buckett,June Baker, Val Brown, Bryan and Carol Joyce

Creating awareness via their schoolnewsletters to their communities at large and selling merchandise within the school in connection with theMarch 31st Awareness Day:Glenallen SchoolKarrendi Primary SchoolGood Samaritan Catholic Primary School

Participants In 2012 School Promo

Our utmost thanks go to these volunteers for organising fundraising via donation tins, merchandise sales etc:Naomi Foster Imke TammenNicole Sidiropoulos Alanna GaykoJasmine Sidiropoulos Helen HibberdJoanne Dixon Pauline Sibley & Judy RosichKate Linnane Susan ParnellJennifer Gearing Brian & Dianne Donegan Sally Stewart

Fundraising Volunteers

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Combination Treatment in Mice Shows Promise for Fatal Neurological Disorder in KidsBy Caroline Arbanas (March 15, 2012; courtesy of Washington University School of Medicine in St. Louis via TheIlluminator, April 2012)

There are no effective treatments for infantile Batten disease, which can also strike older children. And several therapeutic approaches, evaluated in mouse models and in young children, have produced disappointing results.But now, working in mice with the infantile form of Batten disease, scientists at Washington University School of Medicine in St. Louis and Kings College London have discovered dramatic improvements in life span and motor function by treating the animals with gene therapy and bone marrow transplants. The results are surprising, the researchers say, because the combination therapy is far more effective than either treatment alone. Gene therapy was moderately effective in the mice, and bone marrow transplants provided no benefit, but together the two treatments created a striking synergy. The research is online in the Annals of Neurology. “Until now, this disease has been refractory to every therapy that has been thrown at it,” says senior author Mark Sands, PhD, professor of medicine and of genetics at the School of Medicine. “The results are the most hopeful to date, and they open up a new avenue of research to find effective therapies to fight this devastating disease.”

The combination therapy did not cure the disease, the scientists caution, but mice that received both treatmentsexperienced significant, lasting benefits. Mice that got gene therapy and a bone marrow trans- plant lived nearly 18.5 months, more than double the life span of untreated mice with the disease. (Healthy laboratory mice live about 24 months.) And for a significant portion of their lives, motor skills in mice that got both therapies were indistinguishable from those in normal, healthy mice. While bone marrow transplants carry significant risks, especially in children, the researchers say they may be able to combine gene therapy with another treatment to achieve the same results. This same approach potentially could be used to treat other forms of Batten disease.

Batten disease is an inherited genetic disorder that strikes fewer than five of every 100,000 U.S. children but is slightly more common in northern Europe. There are several forms of the disease, diagnosed at different ages, and all are related to the inability of cells to break down and recycle proteins

The infantile form is caused by mutations in the PPT1 gene that codes for an enzyme needed to remove these proteins from cells.

Without a working copy of the gene, the proteins build up in cells, causing seizures, brain atrophy and dementia. The disease progresses most rapidly when it is diagnosed in infants. By age 2, most live in an unresponsive, vegetative state. In the new study, the re- searchers tested various therapies in four groups of newborn mice with infantile Batten disease. One received only gene therapy; another received only bone marrow transplants; a third was treated with gene therapy and bone marrow transplants; and a fourth group received no treatment. As a comparison, the study included healthy mice without the disorder. Gene therapy to replace the PPT1 enzyme was delivered directly into the brain. Bone marrowtransplants were given with the intent that donor cells would migrate to the brain and deliver additional enzyme to regions of the brain not reached by gene therapy. But that’s not what happened, Sands says. Although gene therapy delivered relatively high levels of PPT1 enzyme, the bone marrow transplants did not supply any additional enzyme. Rather, he and his colleagues discovered that mice receiving both therapies experienced a dramatic reduction in brain inflammation. “We suspect that the nor- mal immune cells from the bone marrow transplant substantially re- duce inflammation in the brain because we just don’t see much of it in mice that got both therapies,” Sands says. “This helps the PPT1 enzyme to do its job inside cells.”

The study’s results show no increase in life span for mice receiving bone marrow transplantation alone compared to untreated mice – animals in both groups lived a median of 8.9 months. Mice that got only gene therapy lived 13.5 months, while those that got the combination therapy lived for 18.5 months. The researchers noted similar effects of the therapies when they evaluated motor function. By 6 months, both untreated mice and those that received only a bone marrow transplant had experienced significant declines in motor skills. Mice that got gene therapy alone experienced a decline in motor function beginning at 10 months, and in those that got combination therapy, motor skills did not begin to decline until 13 months and did so more gradually than in the other mice. Mice that got the combination therapy also had higher levels of active PPT1 enzyme in the brain, a thicker cerebral cortex and fewer accumulated proteins in brain cells, all indicators that the treatment is working. Sands is now repeating the experiment and investigating other ways to reduce inflammation in the brain that would not involve the risks of a bone marrow transplant. One possibility, he says, involvesanti-inflammatory drugs that have effects in the brain. “We may be able to achieve the same results with a less invasive anti-inflammatory treatment,” Sands says. “We’re very excited now to move forward.

ResearchAbroad

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Here In Australia and New ZealandAlthough this disease was discovered in 1826, nearly two centuries later,still very little is known about it. With the need for further research to beundertaken in Australia and New Zealand, the Batten Australian ResearchCommittee (BARC) was formed in 2011. It is made up of currentresearchers, parents and BDSRA members (refer to photo)and seeks to identify areas in which Oz and NZ researchers cancontribute to the search for a cure. As a fledgling committee, we areseeking opportunities by which BARC and the BDSRA can become moreinvolved in clinical possibilities, research opportunities, collaborative workinggroups and any other areas of relevance. We feel that it is imperative thatwe become a stronger voice from Australia and New Zealand and feel that wehave much to offer. We aim to meet twice a year and address many areas. We welcome involvement from family and associates. Please contact bdsra@battens.org.au for moreinformation on meeting details.

Several of our BARC members are a part of a research collaboration – namely the Batten Animal Research Network (BARN). BARN includes groups led by Prof David Palmer at Lincoln University, Dr Imke Tammen at the University of Sydney, Dr Stephanie Hughes at Otago, Dr. Jon Cooper in London, and Professors Jenny Morton and Sir John Walker in Cambridge and collaborates with Dr Tony White’s group in Melbourne..

The work has largely concentrated on using large animal models to understand the disease mechanisms and finding possible points of intervention for therapy.

Research Highlights: Biochemical and genetic diagnosis of CLN5 Batten disease in Borderdale sheep and theestablishment of a flock for study. Genetic diagnosis of CLN5 in Devon cattle. Genetic diagnosis of the CLN6 form in South Hampshire sheep and a different CLN6 form in Merinos in Australia. Discovering that neuroinflammation precedes neurodegeneration in Batten disease,opening the way for anti-inflammatory therapies, probably as a combination with other therapies. Discovering that there is intercellular communication in CLN6 Batten disease, vastly improving the possibilities for gene and stem cell therapies in this form and others like it. Discovering extended neuronal cell generation in specific areas of the brain in Batten disease,which provide targets for gene therapy. Development of facilities, expertise and protocols for testing gene and drug therapies for Batten disease in sheep. Development of noninvasive methods to determine preclinical pathology insheep, to allow monitoring of the efficacy of treatments under trial. These include brain volume scans and behavioural studies. Discovery of important changes to biometals and biometaltransporters in models of Batten disease which are similarto altered biometal metabolism observed in other forms ofneurodegeneration.

PHOTO:Back Row: Peter Houweling, Imke Tammen, David PalmerFront Row: Anthony White, Laura Smith, Vanessa Anderson

Research Continued...Australia & New Zealand

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People have kindly offered various pieces of information that may be useful for families.

BLOGS:Below is a list of families who have started blogs about their journey with Batten Diseasehttp://tatyannashope.comhttp://www.comingtogetherforkaitlin.blogspot.com.auhttp://www.holdingontokate.comhttp://teamtilda.wordpress.com/

FACEBOOK:http://www.facebook.com/groups/155390134499620/This is a link to the Facebook Support Group for Batten Disease with over 380 members from all over the world.A valuable resource.

OPPORTUNITIES FOR GRANTS/ ASSISTANCE:Batting For Battens Foundation: willing to consider any requests for funding. Please visit the website for furtherdetails: www.bfbf.org.au

Smile Foundation: normally a once off grant for $1000 which is normally paid out quite quickly once the applicationhas been received. Visit the website for further details:http://www.whiz-graphics.com/SmileFoundation/ FamilyRelief.html

Keune Foundation: 3 payments over 3 months with a total of $1500. May have a longer processing time.http://www.keune.net.au/Page/The-Keune-Foundation/13/

Bunnings Community Assistance:Www.bunnings.com.au/contact-us_in-the-community_local- involvement.aspx

Carer’s Adjustment Payment: Carer Adjustment Payment is a one- off payment that helps familiesdeal with the increased care needs of a 0 to 6-year-old child who has had a sudden and severe illnessor accident. http://www.humanservices.gov.au/customer/services/ centrelink/carer-adjustment-payment

Information Sharing

This 12th International Child Neurology Congress was held in Brisbane In May 2012 and was the largest child neurology congress ever held in Australia. It held a world class scientific program, an international array of speakers from all over the world and aimed to cover all aspects of child neurology and affiliated topics.

BDSRA was given the opportunity to exhibit at this event, representing Battens and providing literature and answering many questions over the 5 day period, including daily care, medications and diet. Three persons, Nicole Sidiropoulos (VIC), Karen Gregg (QLD) and myself, manned a table top display and ensured that literature was available from 9am to 5pm daily and networked where possible. Some key points were:Our organisation was the only medical condition or charity represented group;200 x “3 Journeys” education and information DVDs were handed out; and orders were taken by many different countries’ medic professionals;200 brochures and flyers regarding the London NCL meeting updates. Some of the professionals (other than paediatric neurologists) that collected information included: - Medical Universities, Nursing Services, Genetic Departments, Occupational and Physiotherapy Services, worldwide Children’s hospitals A Information resources found and will be shared in due course; There was much to be gained by attending this event:1. If not just to understand the dilemma faced by the medical professions when faced with Batten Disease;2. For medical professionals with Battens patients (and I was surprised to learn of so many from around the world) how discussing their areas of concern helped;The need for new information on behaviour management;Acknowledgement that a worldwide parent support group (BDSRA) would be of assistance not only to their younger doctors/therapists but to the patient family. For a more detailed report, please email Vanessa@battens.org.au

Feature Article: BDSRA represents at Intl Child Neurology Congress

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Other News

Battens is one of the charities that receives funds from a beautiful West Australian Dolphin monument.Feature story in next issue.

Don't forget you can download each issue of the Illuminator newsletter at BDSRA,USA by visiting www.bdsra.org.au

Lance Johnston retires from position of Director of the BDSRA,USA and Margie Frazier takes on the reigns.

New Battens merchandise item...... Our re-usable water bottles will bein stock shortly—don’t miss out on your own keepsake.

A new group will launch itself in Australia - Rare Voices Australia;A unified voice for all Australians living with a rare disease. They are based inNSW are are excited about this development in the Rare Disease space in Australia.

Remembering...

Since our last issue, we are remembering the followingbrave and inspirational young persons:

Stevie McCutcheon of NZCraig Jones/Daniel of VICMacKenzie-Rose Foster of NSWDaniel Mayer of QLDNgatupuna Patia of Cook IslandsChloe Hampson of ACTBenjahmen Green McNiff of NZ

And Alan Wilton of NSW, Scientist and friend of BDSRAwho lost his battle to cancer.

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BDSRA Australian Chapter, 9 Norton Avenue, Killarney Vale NSW 2261Manager - Vanessa Anderson, Awareness Promotor - Lorraine Daley

Office: 02 43345785 Email: info@battens.org.au Website: www.battens.org.au

Contact

Next Newsletter issue due November 2012.Would you like to be a newsletter sponsor and advertise your logo in the next issue?