Rare Diseases Clinical Research Network

All studies are listed by participating rare disease consortium and status. Please click on 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.

Last Updated: 11 May 2008

Status:

Consortium:

Study Name:

This study is for the following Disease/Disorder:

Recruiting

Urea Cycle Disorders Consortium

5101: Longitudinal Study of Urea Cycle Disorders

All listed

Recruiting

5102: The Effect of Sodium Phenylbutyrate (Buphenyl) Treatment on the Frequency of Hyperammonemia and Magnitude of Hepatic Transaminase, Argininosuccinate and Citrulline Levels in Patients with Argininosuccinic Aciduria (ASA)

Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria) (ASA)

Recruiting

5104: Assessing Neural Mechanisms of injury in inborn errors of urea metabolism using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy

Ornithine Transcarbamylase (OTC) Deficiency

Status:	Consortium:	Study Name:	This study is for the following Disease/Disorder:
Recruiting	Angelman, Rett, and Prader-Willi Syndromes Consortium	5201: Rett Syndrome Natural History Study	Rett Syndrome
Recruiting		5202: Prader-Willi Syndrome and Early-onset Morbid Obesity Natural History Clinical Protocol	Prader-Willi Syndrome
Recruiting		5203: Angelman Syndrome Natural History Study	Angelman's Syndrome
Not recruiting at this time		5204: Efficacy of a Therapeutic Treatment Trial in Angelman Syndrome	Angelman's Syndrome

Status:	Consortium:	Study Name:	This study is for the following Disease/Disorder:
Recruiting	Consortium for Clinical Investigation of Neurological Channelopathies (CINCH)	5301: Andersen-Tawil Syndrome: Genotype-Phenotype Correlation and Longitudinal Study	Andersen-Tawil Syndrome (Periodic paralysis)
Recruiting		5302: Episodic Ataxia Syndrome: Genotype-Phenotype Correlation and Longitudinal Study	Episodic Ataxias
Recruiting		5303: Nondystrophic Myotonias: Genotype-Phenotype Correlation and Longitudinal Study	Non-dystrophic Myotonic Disorders
Not Yet Recruiting		5305: Therapeutic Trial of Potassium and Acetazolamide in Andersen-Tawil Syndrome	Andersen-Tawil Syndrome (Periodic paralysis)

Status:	Consortium:	Study Name:	This study is for the following Disease/Disorder:
Recruiting	Bone Marrow Failure Consortium	5401: Screening Protocol and Longitudinal Study of Bone Marrow Failure Syndromes and Cytopenias	All Listed
Not recruiting at this time		5402: A Phase 2 Study of R115777 in Large Granular Lymphocyte (LGL) Leukemia	Large Granular Lymphocyte (LGL) Leukemia
Recruiting		5403: A Phase I/II Trial of Sirolimus (Rapamune®) and Cyclosporine in Patients with Refractory Aplastic Anemia	Aplastic Anemia
Not recruiting at this time		5405: A Phase I Study of Revlimid ® in Combination with Azacitidine in Patients with Advanced Myelodysplastic Syndrome (MDS)	Myelodysplastic Syndrome
Recruting		5406: Mechanism and Response of Thymoglobulin in Patients with Myelodysplastic Syndrome (MDS)	Myelodysplastic Syndrome

Status:	Consortium:	Study Name:	This study is for the following Disease/Disorder:
Recruiting	Vasculitis Clinical Research Consortium (VCRC)	5502: Longitudinal Protocol for Giant Cell Arteritis	Giant Cell (Temporal) Arteritis (GCA)
Recruiting		5503: Longitudinal Protocol for Takayasu's Arteritis	Takayasu's Arteritis (TAK)
Recruiting		5504: Longitudinal Protocol for Polyarteritis Nodosa	Polyarteritis Nodosa (PAN)
Recruiting		5505: Longitudinal Protocol for Wegener's Granulomatosis and Microscopic Polyangiitis	Wegener's Granulomatosis (WG) Microscopic Polyangiitis (MPA)
Recruiting		5506: Longitudinal Protocol for Churg-Strauss Syndrome	Churg-Strauss Syndrome (CSS)
Not Yet Recruiting		5515: VCRC Imaging Protocol for Magnetic Resonance and Positron Emission Tomography in Large-Vessel Vasculitis (Takayasu's Arteritis): Development as Clinical Trial Outcome Measures	Takayasu's Arteritis (TAK)
Recruiting		5522: VCRC Multi-Center, Open-Label Pilot Study of Abatacept (CTLA4-Ig) in the Treatment of Mild Relapsing Wegener’s Granulomatosis (WG)	Wegener's Granulomatosis (WG)
Not Yet Recruiting		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)	Takayasu's Arteritis (TAK) Giant Cell (Temporal) Arteritis (GCA)

Status:	Consortium:	Study Name:	This study is for the following Disease/Disorder:
Recruiting	Rare Genetic Steroid Disorders Consortium	5601: The Natural History of Rare Genetic Steroid Disorders: Apparent Mineralocorticoid Excess (AME)	Apparent Mineralocorticoid Excess (AME)
Recruiting		5607: Modifier Genes in 21-Hydroxylase Deficiency	Congenital Adrenal Hyperplasia (CAH)
Recruiting		5610: Long-Term Outcome in Offspring and Mothers of Dexamethasone-Treated Pregnancies at Risk for Classical Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency	Congenital Adrenal Hyperplasia (CAH)
Recruiting		5611: Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients with 21-Hydroxylase Deficiency	Congenital Adrenal Hyperplasia (CAH)

Status:	Consortium:	Study Name:	This study is for the following Disease/Disorder:
Recruiting	Rare Lung Disease Consortium	5701: QUANTitative chest computed tomography UnMasking emphysema progression in alpha-1 antitrypsin deficiency (Quantum-1) Study	Alpha-1 Antitrypsin Deficiency (Alpha-1)
Recruiting		5702: Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus Trial (The MILES Trial)	Lymphangioleiomyomatosis (LAM)

Status:	Consortium:	Study Name:	This study is for the following Disease/Disorder:
Recruiting	Rare Thrombotic Diseases Consortium	5801: The Incidence of Thromboembolic Events in Patients with Antibodies to Heparin-PF4 after Cardiac Bypass	Heparin-induced Thrombocytopenia (HIT)
Recruiting		5806: Genetics of Antiphospholipid Antibody Syndrome	Antiphospholipid Antibody Syndromes (APS)

Status:	Consortium:	Study Name:	This study is for the following Disease/Disorder:
Recruiting	Genetic Diseases of Mucociliary Clearance Consortium	5901: Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age	Primary Ciliary Dyskinesia (PCD)
Recruiting		5902: Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests	All Listed
Recruiting		5903: Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age	Primary Ciliary Dyskinesia (PCD)

Status:

Consortium:

Study Name:

This study is for the following Disease/Disorder:

Recruiting

CLiC - Cholestatic Liver Disease Consortium

6001: Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis

Alagille syndrome (AGS)

Alpha-1-antitrypsin (α-1AT) deficiency

Bile acid synthesis and metabolism defects

Progressive familial intrahepatic cholestasis (PFIC)