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Open Studies | "Rare Diseases" (67 records)
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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 & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders;   Undiagnosed Disorders;   Disorders of Unknown Prevalence;   Cornelia De Lange Syndrome;   Prenatal Benign Hypophosphatasia;   Perinatal Lethal Hypophosphatasia;   Odontohypophosphatasia;   Adult Hypophosphatasia;   Childhood-onset Hypophosphatasia;   Infantile Hypophosphatasia;   Hypophosphatasia;   Kabuki Syndrome;   Bohring-Opitz Syndrome;   Narcolepsy Without Cataplexy;   Narcolepsy-cataplexy;   Hypersomnolence Disorder;   Idiopathic Hypersomnia Without Long Sleep Time;   Idiopathic Hypersomnia With Long Sleep Time;   Idiopathic Hypersomnia;   Kleine-Levin Syndrome;   Kawasaki Disease;   Leiomyosarcoma;   Leiomyosarcoma of the Corpus Uteri;   Leiomyosarcoma of the Cervix Uteri;   Leiomyosarcoma of Small Intestine;   Acquired Myasthenia Gravis;   Addison Disease;   Hyperacusis (Hyperacousis);   Juvenile Myasthenia Gravis;   Transient Neonatal Myasthenia Gravis;   Williams Syndrome;   Lyme Disease;   Myasthenia Gravis;   Marinesco Sjogren Syndrome(Marinesco-Sjogren Syndrome);   Isolated Klippel-Feil Syndrome;   Frasier Syndrome;   Denys-Drash Syndrome;   Beckwith-Wiedemann Syndrome;   Emanuel Syndrome;   Isolated Aniridia;   Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11;   Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15;   Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/Inversion;   Beckwith-Wiedemann Syndrome Due to 11p15 Microduplication;   Beckwith-Wiedemann Syndrome Due to 11p15 Microdeletion;   Axenfeld-Rieger Syndrome;   Aniridia-intellectual Disability Syndrome;   Aniridia - Renal Agenesis - Psychomotor Retardation;   Aniridia - Ptosis - Intellectual Disability - Familial Obesity;   Aniridia - Cerebellar Ataxia - Intellectual Disability;   Aniridia - Absent Patella;   Aniridia;   Peters Anomaly - Cataract;   Peters Anomaly;   Potocki-Shaffer Syndrome;   Silver-Russell Syndrome Due to Maternal Uniparental Disomy of Chromosome 11;   Silver-Russell Syndrome Due to Imprinting Defect of 11p15;   Silver-Russell Syndrome Due to 11p15 Microduplication;   Syndromic Aniridia;   WAGR Syndrome;   Wolf-Hirschhorn Syndrome;   4p16.3 Microduplication Syndrome;   4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome;   Autosomal Recessive Stickler Syndrome;   Stickler Syndrome Type 2;   Stickler Syndrome Type 1;   Stickler Syndrome;   Mucolipidosis Type 4;   X-linked Spinocerebellar Ataxia Type 4;   X-linked Spinocerebellar Ataxia Type 3;   X-linked Intellectual Disability - Ataxia - Apraxia;   X-linked Progressive Cerebellar Ataxia;   X-linked Non Progressive Cerebellar Ataxia;   X-linked Cerebellar Ataxia;   Vitamin B12 Deficiency Ataxia;   Toxic Exposure Ataxia;   Unclassified Autosomal Dominant Spinocerebellar Ataxia;   Thyroid Antibody Ataxia;   Sporadic Adult-onset Ataxia of Unknown Etiology;   Spinocerebellar Ataxia With Oculomotor Anomaly;   Spinocerebellar Ataxia With Epilepsy;   Spinocerebellar Ataxia With Axonal Neuropathy Type 2;   Spinocerebellar Ataxia Type 8;   Spinocerebellar Ataxia Type 7;   Spinocerebellar Ataxia Type 6;   Spinocerebellar Ataxia Type 5;   Spinocerebellar Ataxia Type 4;   Spinocerebellar Ataxia Type 37;   Spinocerebellar Ataxia Type 36;   Spinocerebellar Ataxia Type 35;   Spinocerebellar Ataxia Type 34;   Spinocerebellar Ataxia Type 32;   Spinocerebellar Ataxia Type 31;   Spinocerebellar Ataxia Type 30;   Spinocerebellar Ataxia Type 3;   Spinocerebellar Ataxia Type 29;   Spinocerebellar Ataxia Type 28;   Spinocerebellar Ataxia Type 27;   Spinocerebellar Ataxia Type 26;   Spinocerebellar Ataxia Type 25;   Spinocerebellar Ataxia Type 23;   Spinocerebellar Ataxia Type 22;   Spinocerebellar Ataxia Type 21;   Spinocerebellar Ataxia Type 20;   Spinocerebellar Ataxia Type 2;   Spinocerebellar Ataxia Type 19/22;   Spinocerebellar Ataxia Type 18;   Spinocerebellar Ataxia Type 17;   Spinocerebellar Ataxia Type 16;   Spinocerebellar Ataxia Type 15/16;   Spinocerebellar Ataxia Type 14;   Spinocerebellar Ataxia Type 13;   Spinocerebellar Ataxia Type 12;   Spinocerebellar Ataxia Type 11;   Spinocerebellar Ataxia Type 10;   Spinocerebellar Ataxia Type 1 With Axonal Neuropathy;   Spinocerebellar Ataxia Type 1;   Spinocerebellar Ataxia - Unknown;   Spinocerebellar Ataxia - Dysmorphism;   Non Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Spectrin-associated Autosomal Recessive Cerebellar Ataxia;   Spasticity-ataxia-gait Anomalies Syndrome;   Spastic Ataxia With Congenital Miosis;   Spastic Ataxia - Corneal Dystrophy;   Spastic Ataxia;   Rare Hereditary Ataxia;   Rare Ataxia;   Recessive Mitochondrial Ataxia Syndrome;   Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature;   Posterior Column Ataxia - Retinitis Pigmentosa;   Post-Stroke Ataxia;   Post-Head Injury Ataxia;   Post Vaccination Ataxia;   Polyneuropathy - Hearing Loss - Ataxia - Retinitis Pigmentosa - Cataract;   Muscular Atrophy - Ataxia - Retinitis Pigmentosa - Diabetes Mellitus;   Non-progressive Cerebellar Ataxia With Intellectual Disability;   Non-hereditary Degenerative Ataxia;   Paroxysmal Dystonic Choreathetosis With Episodic Ataxia and Spasticity;   Olivopontocerebellar Atrophy - Deafness;   NARP Syndrome;   Myoclonus - Cerebellar Ataxia - Deafness;   Multiple System Atrophy, Parkinsonian Type;   Multiple System Atrophy, Cerebellar Type;   Multiple System Atrophy;   Maternally-inherited Leigh Syndrome;   Machado-Joseph Disease Type 3;   Machado-Joseph Disease Type 2;   Machado-Joseph Disease Type 1;   Lethal Ataxia With Deafness and Optic Atrophy;   Leigh Syndrome;   Leukoencephalopathy With Mild Cerebellar Ataxia and White Matter Edema;   Leukoencephalopathy - Ataxia - Hypodontia - Hypomyelination;   Leigh Syndrome With Nephrotic Syndrome;   Leigh Syndrome With Leukodystrophy;   Leigh Syndrome With Cardiomyopathy;   Late-onset Ataxia With Dementia;   Intellectual Disability-hyperkinetic Movement-truncal Ataxia Syndrome;   Infection or Post Infection Ataxia;   Infantile-onset Autosomal Recessive Nonprogressive Cerebellar Ataxia;   Infantile Onset Spinocerebellar Ataxia;   GAD Ataxia;   Hereditary Episodic Ataxia;   Gliadin/Gluten Ataxia;   Friedreich Ataxia;   Fragile X-associated Tremor/Ataxia Syndrome;   Familial Paroxysmal Ataxia;   Exposure to Medications Ataxia;   Episodic Ataxia With Slurred Speech;   Episodic Ataxia Unknown Type;   Episodic Ataxia Type 7;   Episodic Ataxia Type 6;   Episodic Ataxia Type 5;   Episodic Ataxia Type 4;   Episodic Ataxia Type 3;   Episodic Ataxia Type 1;   Epilepsy and/or Ataxia With Myoclonus as Major Feature;   Early-onset Spastic Ataxia-neuropathy Syndrome;   Early-onset Progressive Neurodegeneration - Blindness - Ataxia - Spasticity;   Early-onset Cerebellar Ataxia With Retained Tendon Reflexes;   Early-onset Ataxia With Dementia;   Childhood-onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia;   Dilated Cardiomyopathy With Ataxia;   Cataract - Ataxia - Deafness;   Cerebellar Ataxia, Cayman Type;   Cerebellar Ataxia With Peripheral Neuropathy;   Cerebellar Ataxia - Hypogonadism;   Cerebellar Ataxia - Ectodermal Dysplasia;   Cerebellar Ataxia - Areflexia - Pes Cavus - Optic Atrophy - Sensorineural Hearing Loss;   Brain Tumor Ataxia;   Brachydactyly - Nystagmus - Cerebellar Ataxia;   Benign Paroxysmal Tonic Upgaze of Childhood With Ataxia;   Autosomal Recessive Syndromic Cerebellar Ataxia;   Autosomal Recessive Spastic Ataxia With Leukoencephalopathy;   Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay;   Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria;   Autosomal Recessive Spastic Ataxia;   Autosomal Recessive Metabolic Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to Repeat Expansions That do Not Encode Polyglutamine;   Autosomal Recessive Ataxia, Beauce Type;   Autosomal Recessive Ataxia Due to Ubiquinone Deficiency;   Autosomal Recessive Ataxia Due to PEX10 Deficiency;   Autosomal Recessive Degenerative and Progressive Cerebellar Ataxia;   Autosomal Recessive Congenital Cerebellar Ataxia Due to MGLUR1 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia Due to GRID2 Deficiency;   Autosomal Recessive Congenital Cerebellar Ataxia;   Autosomal Recessive Cerebellar Ataxia-pyramidal Signs-nystagmus-oculomotor Apraxia Syndrome;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to WWOX Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to TUD Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome Due to KIAA0226 Deficiency;   Autosomal Recessive Cerebellar Ataxia-epilepsy-intellectual Disability Syndrome;   Autosomal Recessive Cerebellar Ataxia With Late-onset Spasticity;   Autosomal Recessive Cerebellar Ataxia Due to STUB1 Deficiency;   Autosomal Recessive Cerebellar Ataxia Due to a DNA Repair Defect;   Autosomal Recessive Cerebellar Ataxia - Saccadic Intrusion;   Autosomal Recessive Cerebellar Ataxia - Psychomotor Retardation;   Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness;   Autosomal Recessive Cerebellar Ataxia;   Autosomal Dominant Spinocerebellar Ataxia Due to a Polyglutamine Anomaly;   Autosomal Dominant Spinocerebellar Ataxia Due to a Point Mutation;   Autosomal Dominant Spinocerebellar Ataxia Due to a Channelopathy;   Autosomal Dominant Spastic Ataxia Type 1;   Autosomal Dominant Spastic Ataxia;   Autosomal Dominant Optic Atrophy;   Ataxia-telangiectasia Variant;   Ataxia-telangiectasia;   Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy;   Autosomal Dominant Cerebellar Ataxia Type 4;   Autosomal Dominant Cerebellar Ataxia Type 3;   Autosomal Dominant Cerebellar Ataxia Type 2;   Autosomal Dominant Cerebellar Ataxia Type 1;   Autosomal Dominant Cerebellar Ataxia;   Ataxia-telangiectasia-like Disorder;   Ataxia-intellectual Disability-oculomotor Apraxia-cerebellar Cysts Syndrome;   Ataxia-deafness-intellectual Disability Syndrome;   Ataxia With Vitamin E Deficiency;   Ataxia With Dementia;   Ataxia Neuropathy Spectrum;   Ataxia - Tapetoretinal Degeneration;   Ataxia - Photosensitivity - Short Stature;   Ataxia - Pancytopenia;   Ataxia - Oculomotor Apraxia Type 1;   Ataxia - Hypogonadism - Choroidal Dystrophy;   Ataxia - Other;   Ataxia - Genetic Diagnosis - Unknown;   Acquired Ataxia;   Adult-onset Autosomal Recessive Cerebellar Ataxia;   Alcohol Related Ataxia
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 EDS in Ataxia Telangiectasia Patients
Conditions: Nervous System Disease;   Genetic Disease;   Rare Disease
Interventions: Drug: EDS-EP dose range of ~5-10 mg DSP/infusion;   Drug: EDS-EP dose range of ~14-22 mg DSP/infusion;   Drug: Placebo
7 Not yet recruiting Motherhood With MOtor Impairment Due to MAlady (Rare Disease)
Conditions: Disability Evaluation;   Child of Impaired Parents
Intervention:
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 Osteogenesis Imperfecta (OI) Quality of Life Survey Pilot Project 2
Conditions: Osteogenesis Imperfecta;   Brittle Bone Disorders
Intervention: Other: Web-based Survey
14 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:
15 Unknown  High Dose Intravenous N-Acetylcysteine Versus Iloprost for Early, Rapidly Progressive Diffuse Systemic Sclerosis
Condition: Scleroderma, Diffuse
Intervention: Drug: N-acetylcysteine (NAC)
16 Unknown  Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe
Condition: Usher Syndrome
Intervention:
17 Recruiting Rare Kidney Stone Consortium Biobank
Conditions: Primary Hyperoxaluria;   Dent Disease;   APRT Deficiency;   Cystinuria
Intervention:
18 Recruiting Nephrotic Syndrome Study Network
Conditions: Minimal Change Disease (MCD);   Membranous Nephropathy;   Glomerulosclerosis, Focal Segmental
Intervention:
19 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:
20 Recruiting PCORI Urea Cycle Disorder Study
Condition: Urea Cycle Disorders
Intervention: Other: No Intervention Given

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Indicates status has not been verified in more than two years