Newsletter of the NIH Rare Diseases Clinical Research Network
Volume 2, Issue 1. Spring 2011

www.RareDiseasesNetwork.org

In This Issue

Welcome

Spotlight on an RDCRN Consortium: CINCH

How Does A Rare Disease Consortium Work?

Urea Cycle Disorders Consortium Benefits from CTSA Leverage

Coalition of Patient Advocacy Groups (CPAG) in the Spotlight

The Office of Rare Diseases Research (ORDR)

RDCRN Opens 30 New Studies for Patient Accrual

About Spotlight

Past Issues

 

Rare Diseases Headlines:

NIH Researchers Identify genetic cause of new vascular disease – Rare disease is the first discovered in Undiagnosed Diseases Program
>> More

Statement Issued from the 2nd Meeting of the International Rare Diseases Research Consortium
>> More

Featured Event:

Rare Diseases Day 2011
>> More

Spotlight Announcements / Calendar of Events

Joubert Syndrome Biennial Conferences: Advancing Translational Ciliopathy Research, July 13, 2011 - July 16, 2011

International Meeting on Genetic Syndromes of the Ras/MAPK Pathway, July 29, 2011 - July 31, 2011

End of Life Palliative Care National Science Summit, August 10, 2011 - August 12, 2011

>> View More News and Events

NIH Rare Diseases Clinical Research Network Opens 30 New Studies for Patient Accrual

There are now 58 studies open to enrollment. These studies are being conducted at 190 institutions and studying over 200 diseases.

RDCRN Protocol Number Protocol Title
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
6201 Modifier Genes in Cerebral Cavernous Malformations
6202 Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
6203 Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia
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
6301 Dystonia Coalition Projects
6401 Tissue Bank Consortium for Salivary Gland Tumors
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
6601 Charcot-Marie Tooth (CMT) Natural History Study: CMTIB, CMT2A, CMT4A and CMT4C
6602 Genetics of Charcot-Marie Tooth (CMT) - Modifiers of CMT1A, New Causes of CMT
6603 Development of Charcot-Marie Tooth (CMT) Peds Scale for Children with CMT
6702 Natural History and Structural Functional Relationships in Fabry Renal Disease
6703 Longitudinal Studies of Brain Structure and Function in Mucopolysaccharidosis (MPS) Disorders
6704 The Natural History of Mucolipidosis Type IV
6705 Longitudinal Study of Bone and Endocrine Disease in Children with Mucopolysaccharidosis (MPS) I, II, and VI: A Multicenter Study of the Lysosomal Disease Network
6707 Characterizing the Neurobehavioral Phenotype(s) in Mucopolysaccharidosis (MPS) III
6713 A Natural History Study of Hexosaminiidase Deficiency
6714 A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I
6716 Genotype-Phenotype Correlations of Late Infantile Neuronal Ceriod Lipofuscinosis
6719 Immune Response to Intrathecal Enzyme Therapy in Mucopolysaccharidosis I Patients
6801 The Nephrotic Syndrome Study Network (NEPTUNE)
6901 A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders
7001 Smith-Lemi-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
7101 Tissue Bank Consortium for Salivary Gland Tumors
7201 Longitudinal Study of Porphyrias
7301 Natural History of and Genetic Modifiers in Spinocerebellar Ataxias
Look What’s on the Horizon at the RDCRN
5109 Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders
5524 PEXIVAS - Plasma exchange and glucocorticoid dosing in the treatment of anti-neutrophil cytoplasm antibody associated vasculitis: an international randomised controlled trial
5904 Rare Genetic Disorders of the Airways: Cross-Sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests
6105 A Double- Blind, randomized, Placebo-Controlled Trial to evaluate the efficacy of Intravenous immunoglobulin Therapy in Autoimmune Autonomic Ganglionopathy
6503 Targeted Therapy of Bronchiolitis Obliterans Syndrome
6706 Epidemiology and Natural History of Woman and Cholesteryl Ester Storage Diseases
6710 Lysosomal Storage Disease: Health, Development, and Functional Outcomes in Preschool Children
6712 A Project to Investigate Clinical and Laboratory Features of Glycoprotein Storage Disorders
6718 Gene Therapy for Tay-Sachs Disease