63 studies found for:    Open Studies | "Rare Diseases"
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Rank Status Study
1 Recruiting Pregnancy and Medically Assisted Conception in Rare Diseases
Conditions: Rheumatoid Arthritis;   Spondyloarthritis;   Psoriatic Arthritis;   Systemic Lupus Erythematosus;   Antiphospholipid Syndrome;   Sjogren Syndrome;   Scleroderma;   Myositis;   Vasculitis;   Mastocytosis;   Various Autoimmune and/or Systemic and/or Rare Diseases
Intervention:
2 Recruiting Rare Disease Patient Registry: Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders;   Undiagnosed Disorders;   Disorders of Unknown Prevalence;   Cornelia De Lange Syndrome
Intervention:
3 Recruiting Orodental Manifestations of Rare Diseases
Condition: Rare Disease Orodontal
Intervention: Other: Salivary and blood samples
4 Recruiting Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in GRD
Condition: Genetic Rare Disease
Intervention: Drug: Busulfan
5 Not yet recruiting Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
Conditions: Movement Disorder;   Cognitive Decline
Intervention:
6 Not yet recruiting Motherhood With MOtor Impairment Due to MAlady (Rare Disease)
Conditions: Disability Evaluation;   Child of Impaired Parents
Intervention:
7 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
8 Recruiting Collection and Storage of Human Biospecimens for Research Into Rare Diseases and Medical Conditions
Condition: Rare Genetic Disorders
Intervention:
9 Recruiting Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))
Condition: Erythropoietic Protoporphyria (EPP)
Intervention:
10 Recruiting Gene Discovery Core, The Manton Center
Conditions: Undiagnosed Conditions;   Rare Disorders;   Orphan Diseases
Intervention:
11 Recruiting BBD Longitudinal Study of Osteogenesis Imperfecta
Condition: Osteogenesis Imperfecta
Intervention:
12 Recruiting The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Condition: Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)
Intervention:
13 Recruiting Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL)
Conditions: FTLD;   Progressive Supranuclear Palsy (PSP);   Frontotemporal Dementia (FTD);   Corticobasal Degeneration (CBD);   PPA Syndrome;   Behavioral Variant Frontotemporal Dementia (bvFTD);   Semantic Variant Primary Progressive Aphasia (svPPA);   Nonfluent Variant Primary Progressive Aphasia (nfvPPA);   FTD With Amyotrophic Lateral Sclerosis (FTD/ALS);   Amyotrophic Lateral Sclerosis (ALS);   Oligosymptomatic PSP (oPSP);   Corticobasal Syndrome (CBS)
Intervention:
14 Unknown  High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis
Condition: Scleroderma, Diffuse
Intervention: Drug: N-acetylcysteine (NAC)
15 Unknown  Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
Condition: Usher Syndrome
Intervention:
16 Recruiting Rare Kidney Stone Consortium Biobank
Conditions: Primary Hyperoxaluria;   Dent Disease;   APRT Deficiency;   Cystinuria
Intervention:
17 Recruiting Nephrotic Syndrome Study Network
Conditions: Minimal Change Disease (MCD);   Membranous Nephropathy;   Glomerulosclerosis, Focal Segmental
Intervention:
18 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:
19 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given
20 Recruiting Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study
Condition: Fabry Disease
Interventions: Drug: agalsidase alfa;   Drug: Agalsidase beta

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Indicates status has not been verified in more than two years