User:Thewritewoman/Lysosomal Disease Network

Lysosomal Disease Network. The Lysosomal Disease Network is a consortium of numerous primary and affiliated medical research institutions which cooperate in researching, developing, experimentally testing and implementing innovative diagnostic and treatment approaches for the group of inherited metabolic diseases which are categorized by dysfunction of the lysosome. These targeted diseases include, but are not limited to, the lysosomal diseases listed below. Note that for any given disease shown below, not all possible disease-name synonyms are shown.

Table 1

Category	Disease	OMIM Nomenclature‡	Alternative Term
(Not yet definitively categorized)	pycnodysostosis	PKND/PYCD	Toulouse-Lautrec syndrome
(Not yet definitively categorized)	early-onset lysosomal acid lipase deficiency	Wolman disease
(Not yet definitively categorized)	late-onset lysosomal acid lipase deficiency	cholesteryl ester storage disease (CESD)	LAL deficiency/LIPA deficiency
(Not yet definitively categorized)	multiple sulfatase deficiency	mucosulfatidosis/MSD	Austin disease
mucopolysaccharidoses (MPS diseases):
	Hurler syndrome	mucopolysaccharidosis type IH	MPS IH
	Hurler-Scheie syndrome	mucopolysaccharidosis type IHS	MPS IHS
	Scheie syndrome	mucopolysaccharidosis type IS	MPS IS
	Hunter syndrome	mucopolysaccharidosis type II	MPS II
	Morquio syndrome type A	MPS IVA	galactosamine-6-sulfatase deficiency
	Morquio syndrome type B	MPS IVB	Morquio syndrome B
	mucopolysaccharidosis type IIIA	heparan sulfate sulfatase deficiency	Sanfilippo syndrome A
	mucopolysaccharidosis type IIIB	N-acetyl-α-D-glucosaminidase deficiency	Sanfilippo syndrome B
	mucopolysaccharidosis type IIIC	acetyl-coa:alpha-glucosaminide N-acetyltransferase deficiency	Sanfilippo syndrome C
	mucopolysaccharidosis type IIID	N-acetylglucosamine-6-sulfatase deficiency	Sanfilippo syndrome D
	mucopolysaccharidosis type VI	arylsulfatase B deficiency	Maroteaux-Lamy syndrome
	mucopolysaccharidosis type VII	beta-glucuronidase deficiency	Sly syndrome
	mucopolysaccharidosis type IX	hyaluronidase deficiency	MPS IX
glycoproteinoses (glycoprotein storage diseases):
	aspartylglucosaminuria	glycosylasparaginase deficiency	AGU
	fucosidosis type 1	α-L-fucosidase deficiency type 1
	fucosidosis type 2	α-L-fucosidase deficiency type 2
	galactosialidosis type I	protective protein/cathepsin A deficiency	galactosialidosis early infantile type
	galactosialidosis type II	protective protein/cathepsin A deficiency	galactosialidosis late infantile type
	galactosialidosis type III	protective protein/cathepsin A deficiency	galactosialidosis juvenile/adult type
	α-mannosidosis types I/II/III	lysosomal α-D-mannosidase deficiency	MANSA
	ß-mannosidosis	lysosomal ß-mannosidase deficiency	MANSB
	mucolipidosis type I	sialidosis type II	lipomucopolysaccharidosis
	mucolipidosis type II α/ß	Leroy disease/ML II	I-cell disease, inclusion-cell disease
	mucolipidosis type III α/ß	ML III alpha/beta	Pseudo-Hurler polydystrophy
	mucolipidosis type III gamma	ML III gamma	mucolipidosis III, complementation group C
	mucolipidosis type IV	ML IV	sialolipidosis
	Schindler disease, type I	α-N-acetylgalactosaminidase deficiency, type I	neuroaxonal dystrophy, Schindler type
	Schindler disease, type II	α-N-acetylgalactosaminidase deficiency, type II	Kanzaki disease
lysosomal transport disorders:
	cystinosis, adult nonnephropathic	cystinosis, ocular nonnephropathic	cystinosis, benign nonnephropathic
	cystinosis, intermediate	cystinosis, late-onset juvenile or adolescent nephropathic	cystinosis, intermediate
	cystinosis, nephropathic	CTNS	defect of lysosomal cystine transport protein
glycogen storage diseases:
	Danon disease	vacuolar cardiomyopathy and myopathy, X-linked	pseudoglycogenosis II
	Pompe disease	glycogen storage disease II	GSD II/cardiomegalia glycogenica
sphingolipidoses:
	Fabry disease	α-galactosidase A deficiency	Anderson-Fabry disease
	Farber disease	Farber lipogranulomatosis	ceramidase deficiency
	Gaucher disease type I	GD I/glucocerebrosidase deficiency	nonneuronopathic type I
	Gaucher disease type II	GD II	acute neuronopathic type II
	Gaucher disease type III	GD III	subacute neuronopathic type/chronic neuronopathic type
	Gaucher disease type IIIC		association with cardiovascular calcifications
	GM1-gangliosidosis type I	generalized gangliosidosis, GM1, infantile form	β-galactosidase deficiency
	GM1-gangliosidosis type II	generalized gangliosidosis, GM1, juvenile type
	GM1-gangliosidosis type III	generalized gangliosidosis, GM1, chronic type	generalized gangliosidosis, GM1, adult type
	GM2-gangliosidosis, type I	Tay-Sachs disease	infantile Tay–Sachs disease
	GM2-gangliosidosis, type II	Sandhoff disease	hexosaminidases A and B deficiency
	juvenile Tay–Sachs disease
	late-onset Tay–Sachs disease	LOTS	adult-onset Tay-Sachs disease
	Krabbe disease	globoid cell leukodystrophy, infantile form	galactosylceramide lipidosis
	late-onset Krabbe disease	globoid cell leukodystrophy, late-onset	galactosylceramidase deficiency
	available
	available
	metachromatic leukodystrophy	MLD	arylsulfatase A deficiency
	Niemann-Pick disease, type C1	NPC1	Niemann-Pick disease with cholesterol esterification block
	Niemann-Pick disease, type C2	NPC2
	Niemann-Pick disease, type A	sphingomyelin lipidosis	sphingomyelinase deficiency/classic infantile form
	Niemann-Pick disease, type B	the 'visceral' form	later-onset nonneurologic form
neuronal ceroid lipofuscinoses (NCL or CLN):
	infantile neuronal ceroid lipofuscinosis	Santavuori disease	INCL
	late infantile neuronal ceroid lipofuscinosis	Jansky-Bielschowsky disease	LINCL
	juvenile neuronal ceroid lipofuscinosis	Batten disease	JNCL
	adult neuronal ceroid lipofuscinosis	Kufs disease	ANCL
	northern epilepsy	progressive epilepsy with mental retardation	EPMR
		‡Online Mendelian Inheritance in Man

History

The Lysosomal Disease Network was established on May 12, 2004 in Minneapolis, Minnesota by an ad hoc group of leading lysosomal disease researchers and physicians from medical institutions across North America. Their mission was to promote and facilitate collaborative research, early diagnosis, effective treatment and prevention of lysosomal diseases. They sought to develop a broad network of research investigators, treating physicians, patient advocacy groups, patients and families, and relevant industry-partners to facilitate, promote, and execute basic research, translational research, and clinical research in lysosomal diseases. The Lysosomal Disease Network that they founded eventually became a widely-dispersed North American network of primary and affiliated institutional centers having expertise in one or more of these rare diseases (see Table 2 below). Such focused expertise makes the best use of limited resources in order to solve major challenges in diagnosis, disease management, and therapy. The principal investigator and program director of the Lysosomal Disease Network is Chester B. Whitley, a metabolic disease physician, professor and researcher at the University of Minnesota Medical School. Whitley has served in this role continuously since the 2004 founding of the Lysosomal Disease Network.

Table 2 -- Research locations and their associated Lysosomal Disease Network studies

Primary or Affiliated Institution:	Participant in Lysosomal Disease Network Study Number:
	Legend: RDCRN means 'Rare Disease Clinical Research Network'
Baylor Research Institute in Dallas, TX	RDCRN #6704
Cedars-Sinai Medical Center in Los Angeles, CA	RDCRN #6708 and 6719
Children's Hospital of Orange County in Orange, CA	RDCRN #6720
Cincinnati Children's Hospital Medical Center	RDCRN #6706
Duke University in Durham, NC	RDCRN #6709
Emory University School of Medicine in Atlanta, GA	RDCRN #6703
Greenwood Genetic Center in North Charleston, SC	RDCRN #6712
Harbor-UCLA Medical Center in Torrance, CA	RDCRN #6714 and 6719
Harvard University, Massachusetts General Hospital in Boston, MA	RDCRN #6713
Hospital for Sick Children in Toronto, ON, Canada	RDCRN #6703
Mayo Clinic in Rochester, MN	RDCRN #6715
New York University School of Medicine in New York, NY	RDCRN #6703
Oakland Children's Hospital & Research Center in Oakland, CA	RDCRN #6705 and 6703
Sanford Children's Health Research Center in La Jolla, CA	RDCRN #6717
University of Alabama at Birmingham	RDCRN #6717
University at Buffalo, Hunter James Kelly Institute in Buffalo, NY	RDCRN #6710
University of British Columbia in Vancouver, BC, Canada	RDCRN #6703
University of California, San Francisco	RDCRN #6703
University of Chicago	RDCRN #6710
University of Miami in Miami, FL	RDCRN #6715
University of Minnesota, Minneapolis, MN	RDCRN #6702, 6703, 6705, 6707, 6710, 6713, 6718, 6720 and 6721
University of Rochester in Rochester, NY	RDCRN #6717
University of South Florida in Tampa, FL	All LDN Studies
University of Utah in Salt Lake City, UT	RDCRN #6705
Weill Cornell Medical College in New York, NY	RDCRN #6716

On October 5, 2009 the National Institutes of Health's Office of Rare Disease Research, the National Institute of Neurological Disorders and Stroke (NINDS), and the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) funded 19 consortia, including the Lysosomal Disease Network, dedicated to prevention, diagnosis and treatment of the 'orphan diseases.' Drugs developed to treat orphan diseases are called 'orphan drugs.' The U.S. National Institutes of Health (NIH) financially supports rare disease research and development. Without such financial support there would be little or no innovative new approaches developed for prevention, diagnosis or treatment of these devastating diseases.

Interested smaller organizations also financially support rare disease research and development efforts, including patient-advocacy groups. Each patient-advocacy group typically focuses their efforts upon a specific subset of these inherited diseases. Numerous lysosomal disease patient advocacy groups are members of the Lysosomal Disease Network, including those shown below:

Table 3

Patient Advocacy Group Name	The group advocates for persons affected by . . .
Acid Maltase Deficiency Association	Pompe disease
Adrenoleukodystrophy Foundation	adrenoleukodystrophy, adrenomyelonueropathy, Addison's disease
The Ara Parseghian Medical Research Foundation	Niemann-Pick type C
Association for Glycogen Storage Disease	Danon disease
Batten Disease Support and Research Association	all of the neuronal ceroid lipofuscinoses
Children’s Gaucher Disease Research Fund	Gaucher disease types 2 & 3
The Children’s Rare Disease Network	multiple rare diseases -- see their Web site
Cystinosis Foundation	All types of cystinosis
Cystinosis Research Network	All types of cystinosis
Fabry Support and Information Group	Fabry disease
Hunter’s Hope Foundation	Krabbe disease, and the Leukodystrophies
International Society for Mannosidosis and Related diseases	α-mannosidosis, aspartylglucosaminuria, ß-mannosidosis, fucosidosis, galactosialidosis, mucolipidosis II (I-cell disease), mucolipidosis III (Pseudo-Hurler polydystrophy), Schindler disease, sialidosis
MLD Foundation	metachromatic leukodystrophy
Mucolipidosis IV Foundation	mucolipidosis type IV
Nathan's Battle Foundation	late infantile Batten disease
The National Fabry Disease Foundation	Fabry disease
National Gaucher Foundation	Gaucher disease
National Mucopolysaccharidosis Society	the MPS diseases
National Niemann-Pick Disease Foundation	all types of Niemann-Pick disease
National Tay-Sachs and Allied Diseases Association	Tay-Sachs and related gangliosidoses
United Leukodystrophy Foundation	the leukodystrophies

Patient advocacy groups collaborate by providing financial support to specific Lysosomal Disease Network research studies, and by spreading the word about ongoing research studies and clinical trials. Additionally, several pharmaceutical companies have chosen to work closely with some members of the Rare Disease Clinical Research Network consortia, including projects within the Lysosomal Disease Network, by contributing financial support to the research, development, testing and implementation of innovative new approaches to some of these rare diseases. Pharmaceutical companies which have worked closely with the Lysosomal Disease Network include: Genzyme, Sanofi, Pfizer, Protalix, Shire HGT, Actelion, and Amicus Therapeutics.

Effectiveness

The fact that the Lysosomal Disease Network consists of geographically-dispersed participating primary and affiliated institutions is the key to its effectiveness. Since each of these diseases is rare in the general population, for any given disease, no single institution serves a large number of these patients. These small numbers of patients mean that the full spectrum of any given disease will not be seen at any single institution. In this context, 'spectrum' means the full range of possible disease signs and symptoms, or the full range of possible disease expression, which might be observed in any given individual patient's condition. Additionally, the small patient numbers at any single institution prevent that single institution from adequately testing any new therapies. For any particular lysosomal disease research study, the participating Lysosomal Disease Network institutions conduct their research in close cooperation with one another, almost as if they were one single institution. This approach maximizes the number of available research subjects for each researched disease, greatly increasing the scope and validity of the new knowledge gained through these multi-site research studies. This is the beauty of the concept behind the 19 consortia recognized and funded by the NIH's Office of Rare Disease Research, NINDS and NIDDK.

Ongoing Activities

The Lysosomal Disease Network currently has eighteen research studies at some stage of execution, whether still actively enrolling research subjects and collecting data, or conducting data-compilation and analysis, or actively preparing the presentation of results. Additionally, the Lysosomal Disease Network annually co-organizes (along with NIH's Office of Rare Disease Research, NINDS and NIDDK) and hosts an international lysosomal diseases research meeting entitled WORLD Symposium. One day prior to the convening of the WORLD Symposium, the Lysosomal Disease Network annually presents an accredited graduate-course-level educational program entitled 'Lysosomes 101.' All interested persons, including persons affected by lysosomal disease, their families and care-givers, members of patient advocacy groups, physicians, researchers, genetic counselors and members of the pharmaceutical industry are welcome to register for and attend Lysosomes 101 and/or the WORLD Symposium.

External links

• 1. U.S. National Institutes of Health home page
• 2. Links to a broad range of information about rare diseases
• 3. Listing of additional contact information for the patient advocacy groups shown in Table 3 (above), including their Web site addresses.
• 4. Actively-linked list of all ongoing research studies of all nineteen rare disease consortia funded by the NIH's Office of Rare Disease Research, NINDS and NIDDK.
• 5. Orphanet: A valuable online portal for information about rare diseases and orphan drugs.
• 6. The National Organization for Rare Disorders (NORD): Another valuable online portal for information about rare diseases and orphan drugs.
• 7. The Office of Orphan Products Development of the United States Food and Drug Administration