Rare Diseases Headlines:

Office of Rare Diseases Research launches web site for Rare Diseases Human Biorepostiories and Biospecimens (RD-HUB)
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Stewardship and Public Access to Research Data
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RDCRN Conditions Approved for Social Security Compassionate Allowance
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Featured Event:

Rare Diseases Day 2012
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Spotlight Announcements / Calendar of Events

Lysosomal Disease Network: WORLD Symposium
San Diego, CA
Feb 8-10, 2012

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The staff of Spotlight are enthusiastic about the potential of our new publication to enhance communication among those interested in treatment and cure of rare diseases. We are very interested in your thoughts about how Spotlight can be improved. If you have suggestions for future issues, please let us hear from you. You can send your comments to RDNWebmaster@epi.usf.edu.

NIH Rare Disorders Clinical Research Network Opens Over 20 New Studies for Patient Accrual

There are now 59 studies open for enrollment. These studies are being conducted at 190 institutions and studying over 200 diseases. A full list of protocols can be found onthe RDCRN Web site.

RDCRN Protocol Number	Protocol Title
Angelman, Rett and Prader-Willi Syndromes Consortium (ARPWSC)
5207	Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome (AS), Rett Syndrome (RTT), and Prader-Willi Syndrome (PWS)
Autonomic Disorders Consortium (ADC)
6101	Peripheral Dopamine in Postural Tachycardia Syndrome
6102	Double blind, placebo controlled clinical trial to assess the efficacy, safety and tolerability of rifampicin in patients with Multiple System Atrophy
6103	Norepinephrine Transporter Blockade in Neurogenic Orthostatic Hypotension
6104	Prosthetic Baroreceptor System for Orthostatic Hypotension
6106	The Phenotype and Natural History of Primary Autonomic Disorders
Brain Vascular Malformation Consortium (BVMC)
6204	Establishing Reliability for Quantitative EEG, Transcranial Doppler, Behavioral Outcomes and Optical Coherence Tomography in Sturge-Weber Syndrome (SWS): The Next Step Toward Biomarker Development
Chronic Graft Versus Host Disease Consortium (cGVHD)
6501	Longitudinal Study of Immune Mediated Disorders after Allogeneic HCT Protocol (Immune Mediated Disorders after Allo-HCT)
6502	A Randomized Phase II Study of Imatinib and Rituximab for Cutaneous Sclerosis after Allogeneic Hematopoietic Cell Transplantation
6503	Targeted Therapy of Bronchiolitis Obliterans Syndrome (BOS)
Genetic Disorders of Mucociliary Clearance Consortium (GDMCC)
5904	Cross-sectional Characterization of Idiopathic Bronchiectasis
Inherited Neuropathies Consortium (INC)
6604	Development and Validation of a Disability Severity Index for Charcot-Marie-Tooth Disease (CMT)
Lysosomal Disease Network (LDN)
6702	Natural History and Structural Functional Relationships in Fabry Renal Disease
6706	A Historical Chart Review and Longitudinal Follow-Up of Identified Patients with Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency
6707	Characterizing the Neurobehavioral Phenotype(s) in MPS III (Pilot Study)
6708	Pulmonary Disease and Exercise Tolerance in Boys with Fabry Disease
6714	A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I
6716	Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis
6718	Gene Therapy for Tay-Sachs Disease. Phase 1: Natural History Data Gather
North American Mitochondrial Diseases Consortium (NAMDC)
7401	North American Mitochondrial Disease Consortium Patient Registry and Biorepository
Primary Immune Deficiency Treatment Consortium (PIDTC)
6902	A Retrospective and Cross-Sectional Analysis of Patients Treated for Severe Combined Immunodeficiency (SCID) (1968-2010)
Rare Kidney Stones Consortium (RKSC)
6401	Hereditary Causes of Nephrolithiasis and Kidney Failure
Salivary Gland Carcinomas Consortium (SGCC)
7101	Tissue Bank Consortium for Salivary Gland Tumors
Sterol and Isoprenoid Research Consortium (STAIR)
7001	Smith-Lemi-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
Vasculitus Clinical Research Consortium (VCRC)
5531	Reproductive Health in Men and Women with Vasculitis (now closed)
5533	Illness Perception, Fatigue, and Function in Systemic Vasculitis. The VCRC Vasculitis Illness Perception (VIP) Study

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NIH Rare Disorders Clinical Research Network Opens Over 20 New Studies for Patient Accrual


The Rare Diseases Clinical Research Network (RDCRN) was established by the National Institutes of Health (NIH) to develop research studies for rare diseases, and to encourage cooperative partnerships among researchers at over 150 clinical centers around the world. This increased cooperation may lead to discoveries that will help treat and perhaps prevent these rare diseases, as well as produce medical advances that will benefit the population in general. The Rare Diseases Clinical Research Network is comprised of a Data Management Coordinating Center and 19 consortia studying over 100 rare diseases.	Funding and/or programmatic support for the Rare Diseases Clinical Research Network (RDCRN) has been provided by NIH Office of Rare Diseases Research (ORDR), NINDS, NIAID, NIDDK, NICHD, NIAMS, NIAID, NIDCR, NHLBI, and NCI.
The National Institutes of Health does not endorse or recommend any commercial products, processes, or services. The views expressed in written materials or publications do not necessarily reflect the official policies of the Department of Health and Human Services; nor does mention by trade names, commercial practices, or organizations imply endorsement by the U.S. Government.