RDCRN Clinical Research Studies

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.

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

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	No Longer Recruiting	Multiple System Atrophy (MSA)
6103: Norepinephrine Transporter Blockade as a Pathophysiological Biomarker in Neurogenic Orthostatic Hypotension	No Longer Recruiting	Adults with neurogenic orthostatic hypotension, greater than or equal to 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	No Longer Recruiting	Patients with Parkinson Disease and rthostatic hypotension or with Pure Autonomic Failure (PAF).
6105: Evaluating the Effectiveness of Intravenous Immunoglobulin Therapy in Autoimmune Autonomic Ganglionopathy (AAG)	Recruiting	Autoimmune Autonomic Ganglionopathy (AAG)
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 Orthostatic Tachycardia Syndrome (POTS) Disorders associated with orthostatic hypotension in which the underlying cause is unclear

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
6205: Permeability MRI in Cerebral Cavernous Malformations type 1 in New Mexico: Effects of Statins	Recruiting	Familial Cavernous Malformations (CCM) - Common Hispanic Mutation
6207: Topical Anti-angiogenic Therapy for Telangiectasia in HHT	Recruiting	Hereditary Hemorrhagic Telangiectasia (HHT) - Brain Arteriovenous Malformation (BAVM)

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)

Dystonia Coalition	Study Name:	Status:	This study is for the following Disease/Disorder:
Dystonia Coalition	6301: Dystonia Coalition Projects	Recruiting	Blepharospasm Cervical Dystonia Craniofacial Dystonia Generalized Dystonia Limb Dystonia Spasmodic Dysphonia Other Dystonias

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	No Longer Recruiting	Primary Ciliary Dyskinesia (PCD) Cystic Fibrosis Pseudohypoaldosteronism (PHA) Other Chronic Sinopulmonary Disease
5903: Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age	No Longer Recruiting	Primary Ciliary Dyskinesia (PCD)
5904: Cross Sectional Characterization of Idiopathic Bronchiectasis	Recruiting	Idiopathic Brochiectasis

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.
6606: An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients	Recruiting	All CMT
6608: Survey of Current Management of Orthopaedic Complications in Charcot Marie Tooth Disease Patients	Recruiting

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	Recruiting	Mucopolysaccharidoses (MPS) Krabbe disease Other Lysosomal Storage DIseases
6711: Expanded Screening for the Fabry Trait protocol	Recruiting	Fabry Disease
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	Recruiting	Niemann-Pick Disease, Type C
6716: Genotype - Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis	Recruiting	Late Infantile Neuronal Ceroid
6717: Clinical and Neuropsychological Investigations in Batten Disease	Recruiting	Batten Disease
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	Mucopolysaccharidosis (MPS) Syndrome
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	No Longer Recruiting	Gaucher disease

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)
6802: Assessment of the Educational Experience for Patients with Newly Diagnosed Nephrotic Syndrome	Recruiting	Kidney disease with large amounts of protein in the urine, Nephrotic Syndrome, Minimal Change Disease, Membranous Nephropathy Focal Segmental Glomerulosclerosis (FSGS)
6803: A Pilot Study to Assess the Effectiveness of Rituximab Therapy in Patients with Focal Segmental Glomerulosclerosis	Not Yet Recruiting	Idiopathic Membranous Nephropathy
6804: Membranous Nephropathy Trial of Rituximab (MENTOR)	Recruiting	Idiopathic Membranous Nephropathy

Study Name:	Status:	This study is for the following Disease/Disorder:
7401: North American Mitochondrial Disease Consortium Patient Registry and Biorespository	Recruiting	See List
7402: Natural History of MNGIE	Recruiting	Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE)
7404: Survey Regarding the use of Oocyte Nuclear Transfer in Mitochondrial Disease	No Longer Recruiting	See List
7405: Natural History of Alpers-Huttenlocher Syndrome	Recruiting	Alpers-Huttenlocher syndrome (AHS)
7406: Survey Regarding NAMDC Research Diagnostic Criteria	Recruiting

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
7202: Mitoferrin-1 Expression in Erythropoietic Protoporphyria	Recruiting	Erythropoietic Protoporphyria (EPP)
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)
7206: Hydroxychloroquine vs. phlebotomy for porphyria cutanea tarda	Recruiting	Porphyria cutanea tarda (PCT)
7207: Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact)	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	Severe Combined Immunodeficiency (SCID)

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
6402: Cystine Capacity (CysCap) Study	Recruiting	Cystinuria
6403: Screening for Dent Disease Mutations in Patients with Proteinuria	Recruiting	Dent Disease
6404: Biobank Protocol	Recruiting	Primary Hyperoxaluria Cystinuria APRT Deficiency Dent Disease

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	Mucoepidermoid Carcinoma (MEC) Adenoid Cystic Carcinoma (ACC) Adenocarcinoma Salivary Duct Carcinoma (AC)
7102: Molecular Epidemiology of Non-Squamous Carcinoma of the Head and Neck	Recruiting	Non-Squamous Carcinoma of the head and neck

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

7102: Molecular Epidemiology of Non-Squamous Carcinoma of the Head and Neck

Recruiting

Non-Squamous Carcinoma of the head and neck

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	No Longer Recruiting	Sitosterolemia
7003: B7 Coreceptor Molecules as Clinically-Relevant Surrogate Biomarkers in the Hyper IgD Syndrome (HIDS) form of Mevalonate Kinase Deficiency (MKD)	Recruiting	Hyperimmunoglobulinemia D with Periodic Fever Syndrome, often abbreviated as Hyper IgD Syndrome (HIDS)
7004: Sjögren-Larsson Syndrome (SLS): A Longitudinal Study of Natural History, Clinical Variation and Evaluation of Biochemical Markers	Recruiting	Sjögren - Larsson Syndrome (SLS)

Study Name:	Status:	This study is for the following Disease/Disorder:
5101: Longitudinal Study of Urea Cycle Disorders	Recruiting	All Diseases Studied by the UCDC
5105: N-carbamylglutamate in the Treatment of Hyperammonemia	Not Yet Recruiting	Partial (late onset) carbamyl phosphate synthetase I deficiency (CPSD) Partial (late onset) ornithine transcarbamylase deficiency (OTCD) Neonatal onset propionic acidemia (PA) Neonatal onset methylmalonic acidemia (MMA)
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
5110: Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD) (Citrullinemia I)	Open, not recruiting new patients at this time	Argininosuccinate Synthetase Deficiency (ASSD) (Citrullinemia I)
5111: Orphan Europe Carbaglu® Surveillance Protocol In Collaboration with the Longitudinal Study of Urea Cycle Disorders	Open, not recruiting new patients at this time	N-Acetylglutamate Synthase (NAGS) Deficiency

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)

Network Resources

RDCRN Clinical Research Studies

Angelman, Rett and Prader-Willi Syndromes Consortium

Autonomic Disorders Consortium

Brain Vascular Malformation Consortium

Dystonia Coalition

Genetic Disorders of Mucociliary Clearance Consortium

Inherited Neuropathies Consortium

Lysosomal Disease Network

Nephrotic Syndrome Rare Disease Clinical Research Network

North American Mitochondrial Disease Consortium

Porphyrias Consortium

Primary Immune Deficiency Treatment Consortium

Rare Kidney Stones Consortium

Salivary Gland Carcinomas Consortium

Sterol and Isoprenoid Research Consortium (STAIR)

Urea Cycle Disorders Consortium

Vasculitis Clinical Research Consortium

About The RDCRN