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Lysosomal Diseases Australia

Lysosomal Diseases Australia (LDA) is a national umbrella organisation formed to represent the interests of people effected by lysosomal storage disorders including their families and carers, to maximise resources available for support services, treatment and research.

LDA will work together with parent support groups built around specific disorders. It is recognised that these groups perfrom a vital function in helping patients and families come to terms with a new diagnosis, and with on-going, day-to-day management and support issues.

Because of the individual rarity of these disorders, LDA will pursue issues generally beyond the scope of the family-based groups. Information about membership can be obtained by contacting the Public Officer.

 

ABOUT

LYSOSOMAL DISEASES AUSTRALIA has been established to represent the needs of all lysosomal storage disorder patients, families and carers Australia-wide, and specifically aims to:

  • Increase the awareness and understanding, through education and publicity, of the general public, health professionals, allied health workers, families, carers and individual support groups, government agencies and the media, about lysosomal storage disorders and their effects on patients and families
  • Increase political recognition and understanding of lysosomal storage disorders, by endeavouring to ensure the provision of appropriate and adequate governmental support services to patients and families
  • Ensure that government, both State and Federal, is aware of the cost benefit advantages offered by expensive therapies, and that these therapies, when available, are provided free of charge to people affected by lysosomal storage disorders
  • Encourage research involved with the diagnosis, management and treatment of lysosomal storage disorder patients
  • Maintain close links with Australian and international family support groups built around specific lysosomal storage disorders to ensure their interests are being properly represented
  • Promote and establish links with similar organisations for lysosomal storage disorders internationally
  • Promote and establish links with Australian and international support organisations for other non-lysosomal organelle diseases.

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Lysosomal Storage Disorders
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...are a group of more than forty different inherited diseases that affect children and adults. They share common biochemical and clinical defects.

The estimated incidence of lysosomal storage disorders in the Australian population is 1 in 5,000 births, leading to 50 new cases in Australia each year. Despite this, these disorders are not well recognised in the community.

Our bodies are made up of billions of cells. lysosomes are each cell's 'recycling centre'. Their role is to break down complex material to simple products for recycling within the cell to build new complex material.

STORAGE within the lysosome occurs when the recycling process fails.
A deficiency in specific proteins (enzymes) causes the recycling process to fail and material to store. Over time, the level of storage in the lysosome increases and leads to severe physical symptoms as the material builds up in the body.


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Symptoms
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Babies with lysosomal storage disorders usually appear normal at birth. Problems progressively appear in the first few years. These may include:

  • Changes in the facial appearance bone
    deformities and joint stiffness
  • loss of skills, such as speech and learning
  • behaviour problems, and mental retardation
  • sight and hearing difficulties
  • frequent respiratory infection and heart disease
  • enlarged organs, such as liver and spleen

Disease severity is variable. Some patients may survive into adulthood, but patients who are more severely affected die in their mid-teens or earlier

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Future Hope ^

Because lysosomal storage disorders have a similar cause, they will accordingly respond to similar therapies.

At present, treatment is available for only two of more than forty lysosomal storage disorders - cystinosis and Gaucher disease.

Two of the most promising therapies currently being intensively researched are:

 

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Treatment ^

Enzyme replacement therapy:
requires the injection of manufactured enzyme into a patient in whom that specific enzyme is missing. This form of therapy has been most successful in patients affected by Gaucher disease. Clinical trials of enzyme replacement therapy are being planned in the near future for other lysosomal storage disorders.

and

Gene replacement therapy:
aims at introducing the appropriate gene into a patient to enable the correct enzyme to be produced in the patient's own cells.

Both of these therapies will enable the stalled recycling process to start and work normally, thereby reversing the storage-causing pathology. The effectiveness of all these therapies would benefit from presymptomatic diagnosis, preferably at birth, with the appropriate therapy started soon after to maximise benefits.

The success of enzyme replacement therapy for Gaucher disease has offered an improved quality of life for patients, their families and carers, and has given HOPE OF A SOLUTION to patients affected by other lysosomal storage disorders.

Therapy also offers significant cost-benefit advantages. It is estimated that the annual medical costs involved in currently managing each lysosomal storage disorder patient can run into hundreds of thousands of dollars per annum. Over several years, therapy could represent a cost saving of millions of health dollars.

 

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Lysosomal Diseases ^


Stored material:

Sphingolipids
(number of deficiencies: 12)
Fabry, Farber, Gaucher, GM1-Gangliosidosis, Krabbe, Metachromaticleucodystrophy, Niemann-Pick types A and B, Sandhoff, Tay Sachs

Mucopolysaccharides
(number of deficiencies: 10)
Hurler (MPS-I), Scheie (MPS-I), Hunter (MPS-II), Sanfilippo ((MPS-IIIA,B,C,D), Morquio (MPS-IVA,B), Maroteaux-Lamy (MPS-VI), Sly (MPS-VII)

Glycogen
(number of deficiencies: 2)
Pompe

Oligosaccharides
(number of deficiencies: 6)
Aspartylglucosaminuria, Fucosidosis, Mannosidosis, Schindler, Sialidosis

Multiple compounds
(number of deficiencies: 3)
Galactosialidosis, Mucolipidosis types II and III, Multiple sulphatase deficiency, Pseudo-Hurler dystrophy, I-Cell disease

Cholesterol
(number of deficiencies: 3)
Niemann-Pick type C1 & C2, Wolman

Amino acids/sugars
(number of deficiencies: 3)
Cystinosis, Infantile Sialic Acid Storage, Salla

Peptides
(number of deficiencies: 1)
Pycnodysostosis

Proteins
(number of deficiencies: 5)
Batten, Ceroid Lipofuscinosis

See table on page 5 of the LDA Newsletter for further detail.

 

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Newsletter ^

Welcome to LDA’s latest newsletter!

The newsletter has been saved in PDF format (download the PDF reader here)
and can be downloaded as a 6 page document or as separate pages.

6 page document (440Kb)


or download the previous newsletters

 

August 2001

6 page document (1.5MB)

page: 1 | 2 | 3 | 4 | 5

 

April 2000

6 page document (2.2MB)

page: 1 | 2 | 3 | 4 | 5 | 6


November 2000

6 page document (440Kb)

page: 1 | 2 | 3 | 4 | 5 | 6

 

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Contacts ^

LYSOSOMAL DISEASES AUSTRALIA

Registered Office:
Department of Chemical Pathology,
Women's and Children's Hospital
72 King William Road,
North Adelaide South Australia, 5006.

Correspondence should be marked Attention: Public Officer, Lysosomal Diseases Australia.

Enquiries about LDA and its activities can be directed to any Board member at the contact points provided below. If you would like to be placed on our mailing list, please contact the Public Officer.


Mr. Ken Hatton

LDA regrets that Ken is no longer a member of the Board. We sincerely thank him for his enthusiasm and commitment to LDA and its goals since its beginnings, and wish him well.



Professor John Hopwood

(Chairman) (SA)

John heads the Lysosomal Diseases Research Unit at the WomenÕs and ChildrenÕs Hospital in Adelaide. Over the last 20 years, he and his group have researched methods to achieve diagnosis at birth and effective therapy for patients affected by lysosomal storage disorders.

Phone: (08) 8161 7293
Fax: (08) 8161 7100
E-mail: jhopwood@medicine.adelaide.edu.au



Ms. Sophie Lazenkas
(Public Officer/Secretary) (SA)

Sophie is the Manager of Business Operations
in the Lysosomal Diseases Research Unit in Adelaide.

Phone: (08) 8161 7393
Fax: (08) 8161 7100
E-mail: slazenkas@medicine.adelaide.edu.au



Dr. Peter MacDonald (NSW)


Peter is a general medical practitioner and was an Independent Member of Parliament in the New South Wales legislature between 1991 and 1998. He has been a member and chairman of a number of parliamentary committees dealing with health and social issues.



Dr. Jim McGill (QLD)


Jim is a metabolic physician and clinical geneticist at the Royal ChildrenÕs Hospital and Mater ChildrenÕs Hospital in Brisbane. He has many yearsÕ experience with managing the care of patients affected by lysosomal storage disorders.

Phone: (07) 3636 8176
E-mail: McGillJ@health.qld.gov.au



Ms. Margaret Sahhar (VIC)

Margaret is a social worker at the Victorian Clinical Genetics Service. She has extensive involvement in the establishment of a number of support groups throughout Victoria. In 1998, she established the Genetic Support Network of Victoria, an umbrella group for all the genetic support groups.

Phone: (03) 8341 6256
E-mail: sahharm@cryptic.rch.unimelb.edu.au



Mrs. Ros Smith
(Deputy Chairman) (NSW)


Ros had a child affected by a lysosomal storage disorder and has been involved with the Australian Mucopolysaccharide and Related Diseases Society Aust. since its inception in 1983.

Her commitment to families affected by genetic disorders is demonstrated by her continued involvement with umbrella organisations such as The Association of Genetic Support of Australasia.

 

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Related sites ^


Information on Specific Disorders:


Batten disease (neuronal ceroid lipofuscinosis)

Batten Disease Support and Research Association

Cystinosis Cystinosis Foundation

Cystinosis Central

Fabry disease

International Center for Fabry Disease

National Institutes of Health - Fabry disease

Fabry Support and Information Group

Fucosidosis

Fucosidosis Gaucher disease

National Gaucher Foundation

Krabbe Disease

Krabbe's Family Network

Hunter's Hope

Haley's Hope

United Leukodystrophy Foundation

Mannosidosis

The Tromso Mannosidosis Group

Mucopolysaccharide and Related Diseases

The Canadian MPS Society

The National MPS Society (USA)

The UK MPS Society

Niemann-Pick disease

Foundation Ara Parseghian Medical Research (Niemann-Pick C)

>Foundation National Niemann-Pick Disease

Pompe disease / Glycogen Storage diseases

Pompe Disease. A Guide for Families

Department of Clinical Genetics Erasmus University, Rotterdam

L'Association Francophone des Glycogenoses (in French)

Association for Glycogen Storage Diseases (UK)

Acid Maltase Deficiency Association (US)

Pycnodysostosis

>All you wanted to know.... Tay Sachs disease/Sandhoff disease

Late-Onset Tay Sachs Disease Massachusetts General Hospital

National Tay Sachs and Allied Diseases Association, Inc.

General Information

Rare Genetic Diseases in Children. An Internet Resource Gateway.

Australasian Referral Laboratory for the Diagnosis of Lysosomal, Peroxisomal and Related Genetic Disorders

University of Minnesota Gene Therapy Program

The National Organisation for Rare Disorders

Inc.Office of Rare Diseases

>Food and Drug Administration Office of Orphan Products Development

World-wide Web Biochemical Genetics Test List

Inherited Metabolic Diseases

Lysosomal Diseases Testing Laboratory, Jefferson Medical College

Disease Database

Association Vaincre les Maladies Lysosomale (in French)

 

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Patron ^

We are very pleased to announce that LDA's Patron is Dr. Peter Doherty.

Dr. Doherty is a well-respected Australian scientist who was awarded the Nobel Prize for Physiology or Medicine in 1996 for his work on the immune system.

The discoveries have had an impact on the development of vaccine design and organ transplantation, and have led to further understanding of the mechanisms involved in immunity.

Dr. Doherty is Chairman of the Department of Immunology at St. Jude ChildrenÕs Research Hospital in Memphis, USA



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Sponsorship policy ^

LDA has a number of objectives. To achieve these, LDA receives sponsorship from a variety of sources, which are listed in this newsletter. The sponsors are presented in alphabetical order, which does not in any way reflect the amount or type of sponsorship received. The Board has developed a Sponsorship Policy to guide our acceptance of donations/ sponsorship.

This Policy is reproduced below...


Sponsors:

BioMarin Pharmaceuticals, Inc. (USA)
Genzyme Corporation (USA)
Transkaryotic Therapies, Inc. (USA)


Guiding principles and Functions of Policy

Lysosomal Diseases Australia (LDA) was established in December 1998 as a non-profit company limited by guarantee.

It is likely that LDA will receive donations or sponsorship from a variety of sources, including corporations. As a consequence it is necessary for LDA to define and establish clear guidelines for the acceptance of such sponsorship. For the purposes of this Policy, 'sponsorship' means both donations and sponsorship, and includes both private and corporate donations or sponsorship.


This policy seeks to:

  • set clear parameters and terms for the acceptance of sponsorship, which include the rights and obligations of both LDA and its sponsors;

  • ensure that confidence in LDA's independence and reputation is retained by full disclosure of sponsorship and declaration of conflicts of interest to avoid the perception of bias.
  1. LDA will remain autonomous from any sponsor. Sponsorship of LDA does not entitle the sponsor to control LDA in any way, nor does it confer any benefits, privileges or rights to the sponsor.

  2. In accepting a sponsorship, LDA will not endorse, or give the impression of endorsing, the actions or products of a sponsor. LDA publications will contain the standard disclaimer, "LDA gratefully acknowledges the above sponsors and wishes to make known that LDA remains independent of its sponsors and does not necessarily endorse any products or services of its sponsors".

  3. To avoid perceptions of conflict of interest in pursuing its objectives, LDA will in all cases clearly set out its relationship with sponsors at the outset of any discussions in which this could be an issue, and declare that LDA does not endorse the products or services of any of its sponsors. This is important in those areas of activity where a particular outcome may be perceived as directly benefiting a sponsor.

  4. The LDA Board of Management reserves the right to refuse a sponsor if the Board considers the sponsor is incompatible with the objectives of LDA. The decision of the Board is final.

  5. ?To ensure transparency and remove perceptions of bias, sponsors will be acknowledged alphabetically on the LDA web site and newsletters, and any other publications as deemed appropriate by the LDA Board of Management. Details concerning the amount or type of sponsorship provided by any sponsor will not be divulged.

  6. In the case of corporate sponsors, LDA will not publish company logos in any of its publications. The LDA web site will not provide links to corporate web sites.

  7. ?To reduce the potential for perceptions of bias, sponsors will be advised at the outset that LDA aims for a mix of sponsors who are considered compatible with LDA's objectives. This is important in the case of corporate sponsors who may be competitive within a related field.

  8. Sponsors may be approached by LDA from time to time to provide material for publication that is of direct educative interest and relevance to LDA's objectives. The material provided will be reviewed prior to publication and all references to specific companies, their products or services will be removed at the discretion of LDA, consistent with (2).

  9. Sponsorship of LDA does not in any way make the sponsor liable for the actions or statements made by members of LDA.

  10. Sponsors are able to request an audited report, which details the manner in which LDA funds are spent.

  11. Sponsors will receive copies of newsletters and regular up-dates of LDA's activities

Disclaimer:
LDA gratefully acknowledges the above sponsors and wishes to make known that LDA remains independent of its sponsors and does not necessarily endorse any products or services of its sponsors.

 

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