Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
68 studies found for:    Open Studies | "Rare Diseases"
Show Display Options
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  Studies in Porphyria I: Characterization of Enzyme Defects
Condition: Porphyria
Intervention:
14 Unknown  Randomized Study of L-Baclofen in Patients With Refractory Trigeminal Neuralgia
Condition: Trigeminal Neuralgia
Intervention: Drug: L-baclofen
15 Unknown  Study of Recombinant Human Insulin-Like Growth Factor I in Patients With Severe Insulin Resistance
Conditions: Insulin Resistance;   Hyperglycemia
Intervention: Drug: insulin-like growth factor I
16 Unknown  Study of Energy Expenditure in Infants With Ventricular Septal Defects
Condition: Heart Septal Defects, Ventricular
Intervention:
17 Unknown  Study of Treatment and Metabolism in Patients With Urea Cycle Disorders
Condition: Amino Acid Metabolism, Inborn Errors
Interventions: Behavioral: Protein and calorie controlled diet;   Genetic: Ornithine transcarbamylase vector
18 Unknown  Phase II Randomized Study of Collagenase in Patients With Residual Type Dupuytren's Disease
Condition: Dupuytren's Contracture
Intervention: Drug: collagenase
19 Unknown  Study of Energy Requirements in Critically Ill Newborns
Condition: Respiratory Distress Syndrome
Intervention:
20 Unknown  Study of Systemic Amyloidosis Presentation and Prognosis
Condition: Amyloidosis
Intervention:

   Previous Page Studies Shown (1-20) Next Page (21-40) Show next page of results    Last Page
Indicates status has not been verified in more than two years