68 studies found for:    Open Studies | "Rare Diseases"
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Rank Status Study
1 Recruiting Rare Disease Patient Registry: Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders;   Undiagnosed Disorders;   Disorders of Unknown Prevalence
Intervention:
2 Not yet recruiting Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in GRD
Condition: Genetic Rare Disease
Intervention: Drug: Busulfan
3 Recruiting Biobank Protocol, Rare Diseases Clinical Research Network
Conditions: Primary Hyperoxaluria;   Dent Disease;   APRT Deficiency;   Cystinuria
Intervention:
4 Recruiting Decision Support for Parents Receiving Information About Child's Rare Disease
Conditions: Disorder of Sex Development;   Intersex Conditions;   Congenital Adrenal Hyperplasia;   Hypospadias
Intervention: Behavioral: Decision Support Tool
5 Recruiting Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
Condition: Erythropoietic Protoporphyria (EPP)
Intervention:
6 Recruiting The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Condition: Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Intervention:
7 Unknown  High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis
Condition: Scleroderma, Diffuse
Intervention: Drug: N-acetylcysteine (NAC)
8 Recruiting Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
Condition: Usher Syndrome
Intervention:
9 Recruiting Nephrotic Syndrome Study Network
Conditions: Minimal Change Disease (MCD);   Membranous Nephropathy;   Glomerulosclerosis, Focal Segmental
Intervention:
10 Recruiting Pediatric Vasculitis Initiative
Conditions: Wegeners Granulomatosis (Granulomatosis With Polyangiitis);   Microscopic Polyangiitis;   Churg Strauss Syndrome (Eosinophilic Granulomatosis With Polyangiitis);   Polyarteritis Nodosa;   Takayasu Arteritis;   Primary CNS Vasculitis;   Unclassified Vasculitis
Intervention:
11 Recruiting Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study
Condition: Fabry Disease
Interventions: Drug: agalsidase alfa;   Drug: Agalsidase beta
12 Unknown  Pulmonary Hypertension, Quality of Life and Psychosocial Factors
Condition: Pulmonary Hypertension
Intervention: Behavioral: Evaluation of quality of life
13 Unknown  Study of Depression, Peptides, and Steroids in Cushing's Syndrome
Condition: Cushing's Syndrome
Intervention:
14 Unknown  Randomized Study of Human Parathyroid Hormone in Middle-Aged Men With Idiopathic Osteoporosis
Condition: Osteoporosis
Intervention: Drug: human parathyroid hormone
15 Unknown  Phase I/II Randomized Study of Hydroxyurea With or Without Clotrimazole in Patients With Sickle Cell Anemia
Condition: Sickle Cell Anemia
Interventions: Drug: clotrimazole;   Drug: hydroxyurea
16 Unknown  Genetic Study of Insulin-Like Growth Factor-I Receptor Mutations in Patients With Intrauterine Growth Retardation
Condition: Intrauterine Growth Retardation
Intervention:
17 Unknown  Phase II Randomized Trial of Arginine Butyrate Plus Standard Local Therapy in Patients With Refractory Sickle Cell Ulcers
Conditions: Skin Ulcers;   Sickle Cell Anemia
Intervention: Drug: arginine butyrate
18 Unknown  Study of Systemic Amyloidosis Presentation and Prognosis
Condition: Amyloidosis
Intervention:
19 Unknown  Study of Energy Requirements in Critically Ill Newborns
Condition: Respiratory Distress Syndrome
Intervention:
20 Unknown  Phase II Randomized Study of Collagenase in Patients With Residual Type Dupuytren's Disease
Condition: Dupuytren's Contracture
Intervention: Drug: collagenase

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