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Spotlight on Rare Diseases: Quarterly Newsletter of the NIH Rare Diseases Clinical Research Network

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Save the Date! 3rd Conference on Clinical Research on Rare Diseases

All studies are listed by participating rare disease consortium and status. Please click on the Study Name to learn more about a particular study. Information on a study will include: study description, criterion, and locations. For addtional information on a specified disease, click the disease link associated with that study, or return to the RDCRN home page for more information

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

In order to participate in an open study, please contact the study coordinator using the contact information provided.

*Note: Each link will take you directly to that consortium's web site.

Angelman, Rett and Prader-Willi Syndromes Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	5201: Rett Syndrome Natural History Study	Recruiting	Rett Syndrome
	5202: Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol	Recruiting	Prader-Willi Syndrome
	5203: Angelman Syndrome Natural History Study	Recruiting	Angelman Syndrome
	5207: Sleep Abnormalities in Rare Genetic Disorders: Angelman Syndrome (AS), Rett Syndrome (RTT), and Prader-Willi Syndrome (PWS)	Recruiting	Rett Syndrome; Prader-Willi Syndrome; Angelman Syndrome

 

Autonomic Disorders Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	6101: Peripheral Dopamine after Carbidopa Administration in Postural Tachycardia Syndrome	Recruiting	Postural Orthostatic Tachycardia Syndrome (POTS)
	6102: An Oligo-centered, Randomized, Double-blind, Placebo-controlled Clinical Trial to Assess the Efficacy, Safety, and Tolerability of Rifampicin in Patients with Multiple System Atrophy	Recruiting	Multiple System Atrophy (MSA)
	6103: Norepinephrine Transporter Blockade as a Pathophysiological Biomarker in Neurogenic Orthostatic Hypotension	Recruiting	Adults with neurogenic orthostatic hypotension, ≥30 mmHg drop in SBP within 5 minutes of standing. This may include those with Multiple System Atrophy (MSA), Parkinson’s Disease (PD) and Pure Autonomic Failure (PAF).
	6104: Safety and Efficacy of Intravenous Norepinephrine for Orthostatic Hypotension	Recruiting	Patients with Parkinson Disease and rthostatic hypotension or with Pure Autonomic Failure (PAF).
	6106 - The phenotype and natural history of primary autonomic disorders	Recruiting	Pure autonomic failure Multiple system atrophy Dementia with Lewy bodies Parkinson disease Dopamine-beta-hydroxylase deficiency Baroreflex failure Autoimmune autonomic ganglionopathy Postural tachycardia syndrome (POTS) Disorders associated with orthostatic hypotension in which the underlying cause is unclear

Brain Vascular Malformation Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	6201: Modifier Genes in Cerebral Cavernous Malformations	Recruiting	Familial Cavernous Malformations (CCM) - Common Hispanic Mutation
	6202: Innovative approaches to gauge progression of Sturge-Weber Syndrome	Recruiting	Sturge-Weber syndrome (SWS) - Leptomeningeal Angiomatosis
	6203: Cerebral Hemorrhage Risk in Hereditary Hemorrhagic Telangiectasia	Recruiting	Hereditary Hemorrhagic Telangiectasia (HHT) - Brain Arteriovenous Malformation (BAVM)
	6204: Establishing reliability for Quantitative EEG, Transcranial Doppler, behavioral outcomes and Optical Coherence Tomography in SWS: The next step toward biomarker development.	Recruiting	Sturge-Weber syndrome (SWS) - Leptomeningeal Angiomatosis

	Study Name:	Status:	This study is for the following Disease/Disorder:
	6501: Longitudinal Study of Immune Mediated Disorders after Allogeneic HCT Protocol (Immune Mediated Disorders after Allo-HCT)	Recruiting
	6502: A Randomized Phase II Study of Imatinib and Rituximab for Cutaneous Sclerosis after Allogeneic Hematopoietic Cell Transplantation	Recruiting	Cutaneous Sclerosis
	6503: Targeted Therapy of Bronchiolitis Obliterans Syndrome (BOS)	Recruiting	Bronchiolitis Obliterans Syndrome (BOS)

Clinical Research Consortium for Spinocerebellar Ataxias	Study Name:	Status:	This study is for the following Disease/Disorder:
	7301: Natural History of and Genetic Modifiers in Spinocerebellar Ataxias	Recruiting	All Diseases Studied

Dystonia Coalition	Study Name:	Status:	This study is for the following Disease/Disorder:
	6301: Dystonia Coalition Projects	Recruiting	All Diseases Studied

Genetic Disorders of Mucociliary Clearance Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	5902: Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests	Recruiting	All Diseases Studied
	5903: Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age	Recruiting	Primary Ciliary Dyskinesia (PCD)
	5904: Cross Sectional Characterization of Idiopathic Bronchiectasis	Recruiting	Idiopathic Brochiectasis

Inherited Neuropathies Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	6601: Natural History Evaluation of Charcot Marie Tooth Disease	Recruiting	CMT1B, CMT2A, CMT4A, or CMT4C,
	6602: Genetics of CMT- Modifiers of CMT1A, New Causes of CMT2	Recruiting	CMT1A, CMT2
	6603: Development of CMT Peds Scale for Children with CMT	Recruiting	CMT1, CMT2, or CMT4.

Lysosomal Disease Network	Study Name:	Status:	This study is for the following Disease/Disorder:
	6702: Natural History and Structural Functional Relationships in Fabry Renal Disease	Recruiting	Fabry Disease
	6703: Longitudinal Studies of Brain Structure and Function in MPS Disorders	Recruiting	Mucopolysaccharidoses (MPS)
	6704: The Natural History of Mucolipidosis type IV	Recruiting	Mucolipidosis type IV
	6705: Longitudinal Study of Bone and Endocrine Disease in Children with MPS I, II and VI: A Multicenter Study of the Lysosomal Disease Network	Recruiting	Mucopolysaccharidoses (MPS)
	6706: A Historical Chart Review and Longitudinal Follow-Up of Identified Patients with Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency	Recruiting	Wolman Disease Cholesteryl Ester Storage Disease Lysosomal Acid Lipase Deficiency
	6707: Characterizing the Neurobehavioral Phenotype(s) in MPS III (Pilot Study)	Recruiting	Mucopolysaccharidoses (MPS)
	6708: Pulmonary Disease and Exercise Tolerance in Boys with Fabry Disease	Recruiting	Fabry Disease
	6709: Longitudinal Follow-up of Individuals with Infantile Pompe Disease	Recruiting	Pompe Disease
	6710: Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children	Not Yet Recruiting	Mucopolysaccharidoses (MPS) Krabbe disease Other Lysosomal Storage DIseases
	6712: Longitudinal Studies of the Glycoproteinoses	Recruiting	Aspartylglucosaminuria Fucosidosis Galactosialidosis alpha-mannosidosis beta-mannosidosis Mucolipidosis II Mucolipidosis III Schindler disease Sialidosis
	6713: A Natural History Study of Hexosaminidase Deficiency	Recruiting	Tay-Sachs disease
	6714: A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I	Recruiting	Mucopolysaccharidoses (MPS)
	6715: Longitudinal Study of Cognition with Niemann-Pick Disease, Type C	Not Yet Recruiting
	6716: Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis	Recruiting	Late Infantile Neuronal Ceroid
	6718: Gene Therapy for Tay-Sachs Disease. Phase 1: Natural History Data Gather	Recruiting	Tay-Sachs disease
	6719: Immune Response to Intrathecal Enzyme Therapy in Mucopolysaccharidosis 1 Patients	Open, Not recruiting patients at this time
	6720: Carotid Structure and Function in Mucopolysaccharidosis (MPS) Syndrome: A Multicenter Study of the Lysosomal Disease Network	Recruiting	Mucopolysaccharidosis (MPS) Syndrome
	6721: Intravenous N-acetylcysteine for the treatment of Gaucher’s disease and Parkinson’s disease	Recruiting	Gaucher disease

Nephrotic Syndrome Rare Disease Clinical Research Network	Study Name:	Status:	This study is for the following Disease/Disorder:
	6801: The Nephrotic Syndrome Study Network(NEPTUNE)Longitudinal Cohort	Recruiting	Focal and Segmental Glomerulosclerosis (FSGS) Minimal Change Disease (MCD) Membranous Nephropathy (MN)

 

North American Mitochondrial Diseases Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	7401: North American Mitochondrial Disease Consortium Patient Registry and Biorespository	Recruiting

 

Porphyria Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	7201: Longitudinal Study of the Porphyrias	Recruiting	A confirmed diagnosis of a porphyria or have a relative who has been diagnosed with a porphyria
	7204: Clinical Diagnosis of Acute Porphyria	Recruiting	Acute Intermittent Porphyria Hereditary Coproporphyria Variegate Porphyria
	7205: Measuring the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration in Patients with Erythropoietic Protoporphyria	Recruiting	Erythropoietic Protoporphyria (EPP)

Primary Immune Deficiency Treatment Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	6901: A Prospective Natural History Study of Diagnosis, Treatment and Outcomes of Children with SCID Disorders	Recruiting	Severe Combined Immunodeficiency (SCID)
	6902: A Retrospective and Cross - Sectional Analysis of Patients Treated for SCID (1968-2010)	Recruiting

 

Rare Kidney Stones Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	6401: Hereditary Causes of Nephrolithiasis and Kidney Failure	Recruiting	Primary Hyperoxaluria Cystinuria APRT Deficiency Dent Disease
	6403: Screening for Dent Disease Mutations in Patients with Proteinuria	Not Yet Recruiting	Click for more information >

Salivary Gland Carcinomas Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	7101: Tissue Bank Consortium for Salivary Gland Tumors	Open, not recruiting patients at this time	All Diseases Studied

 

Sterol and Isoprenoid Research Consortium (STAIR)	Study Name:	Status:	This study is for the following Disease/Disorder:
	7001: Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation	Recruiting	Smith-Lemli-Opitz Syndrome
	7002: Assessment of Sterol Metabolism in Sitosterolemia: A Pilot Study of Patients Treated with Ezetimibe	Recruiting	Sitosterolemia

Urea Cycle Disorders Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	5101: Longitudinal Study of Urea Cycle Disorders	Recruiting	All Diseases Studied
	5107: Investigation of Brain Nitrogen Metabolism in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1H MRS, DTI, and fMRI	Recruiting	Ornithine Transcarbamylase Deficiency (OTCD)
	5109: Protocol Oxidative Stress, Inflammation and Acute Decompensation in Urea Cycle Disorders	Open, not recruiting new patients at this time

Vasculitis Clinical Research Consortium	Study Name:	Status:	This study is for the following Disease/Disorder:
	5502: Longitudinal Protocol for Giant Cell Arteritis	Recruiting	Giant Cell (Temporal) Arteritis (GCA)
	5503: Longitudinal Protocol for Takayasu's Arteritis	Recruiting	Takayasu's Arteritis (TAK)
	5504: Longitudinal Protocol for Polyarteritis Nodosa	Recruiting	Polyarteritis Nodosa (PAN)
	5505: Longitudinal Protocol for Wegener's Granulomatosis and Microscopic Polyangiitis	Recruiting	Granulomatosis with Polyangiitis (Wegener's) (GPA) Microscopic Polyangiitis (MPA)
	5506: Longitudinal Protocol for Churg-Strauss Syndrome	Recruiting	Churg-Strauss Syndrome (CSS)
	5510: VCRC Genetic Repository One Time DNA Protocol	Recruiting	Churg-Strauss Syndrome (CSS) Giant Cell (Temporal) Arteritis (GCA) Granulomatosis with Polyangiitis (Wegener's) (GPA) Microscopic Polyangiitis (MPA) Polyarteritis Nodosa (PAN) Takayasu's Arteritis (TAK)
	5515: VCRC Imaging Protocol for Magnetic Resonance and Positron Emission Tomography in Large-Vessel Vasculitis (Takayasu's Arteritis): Development as Clinical Trial Outcome Measures	Recruiting	Takayasu's Arteritis (TAK)
	5523: Concurrent Pilot Studies in Giant Cell Arteritis and Takayasu's Arteritis to Examine the Safety, Efficacy, and Immunologic Effects of Abatacept (CTLA4-Ig) in Large Vessel Vasculitis (AGATA)	Recruiting	Takayasu's Arteritis (TAK) Giant Cell (Temporal) Arteritis (GCA)
	5534: Educational Needs of Patients with Systemic Vasculitis - an international survey	Recruiting

About The RDCRN

The Rare Diseases Clinical Research Network (RDCRN) is funded by the National Institutes of Health (NIH) and the Office for Rare Diseases Research (ORDR). RDCRN was created to facilitate collaboration among experts in many different types of rare diseases. Our goal is to contribute to the research and treatment of rare diseases by working together to identify biomarkers for disease risk, disease severity and activity, and clinical outcome, while also encouraging development of new approaches to diagnosis, prevention, and treatment. More About the RDCRN >

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