1785 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Biomarker for Mucolipidosis Disorder Type I, II, III or IV
Conditions: Mucolipidosis Type I;   Mucolipidosis Type II;   Mucolipidosis Type III;   Mucolipidosis Type IV;   Mucolipidosis
Intervention:
22 Not yet recruiting PRAgmatic Trial in Atopic Dermatitis Testing Long-term Control Effectiveness of New Phototherapy Regimen During Winter Coupled With Oral Vitamin D Supplementation vs. Placebo
Condition: Atopic Dermatitis
Interventions: Drug: Cholecalciferol;   Drug: Placebo of cholecalciferol
23 Not yet recruiting Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)
Condition: X-linked Hypophosphatemia
Intervention: Biological: KRN23
24 Not yet recruiting Intravitreal Aflibercept for Therapy of Patients With Pseudoxanthoma Elasticum (PXE)
Condition: Pseudoxanthoma Elasticum
Intervention: Drug: Aflibercept
25 Not yet recruiting A Study of the Effects of Renal Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Condition: Gaucher Disease
Intervention: Drug: eliglustat
26 Not yet recruiting A Study of the Effects of Hepatic Impairment on the Pharmacokinetics and Tolerability of Eliglustat Tartrate
Condition: Gaucher Disease
Intervention: Drug: eliglustat
27 Not yet recruiting Skeletal Response to Eliglustat in Patients With Gaucher Disease
Condition: Gaucher's Disease
Intervention: Drug: eliglustat
28 Not yet recruiting Arginine Therapy for Sickle Cell Disease Pain
Conditions: Sickle Cell Disease;   Vaso-occlusive Pain Event
Interventions: Drug: L-arginine;   Drug: L-arginine Loading Dose;   Other: Placebo
29 Not yet recruiting Probiotics and Corticosteroids for Treating Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA)
Conditions: Periodic Fever;   Aphthous Stomatitis;   Pharyngitis;   Cervical Adenitis
Interventions: Biological: Lactobacillus acidophilus and Bifidobacterium lactis;   Other: Placebo
30 Recruiting Deep Brain Stimulation (DBS) of the Globus Pallidus (GP) in Huntington's Disease (HD)
Condition: Huntington Disease
Intervention: Device: ACTIVA® PC neurostimulator (Model 37601)
31 Recruiting Evaluation of Nebulization and Positive Expiratory Pressure Combination
Condition: Cystic Fibrosis
Interventions: Device: Positive expiratory pressure;   Drug: Amikacine nebulization
32 Not yet recruiting Study of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) to Treat Niemann-Pick Type C1 (NPC1) Disease
Condition: Niemann-Pick Disease, Type C
Interventions: Drug: HP-β-CD;   Drug: Sham Procedure Control
33 Not yet recruiting Does Treatment With Montelukast Improve Symptoms of Atopic Dermatitis in Children?
Condition: Dermatitis, Atopic
Intervention: Drug: Montelukast
34 Recruiting A Brain Imaging Study to Assess GABAA Receptor Alpha5 Subunit Occupancy Following a Single Dose of RO5186582 in Japanese Healthy Volunteers.
Condition: Down Syndrome
Intervention: Drug: RO5186582
35 Recruiting The Natural History of Atopic Disease in Thai Children and Association With Atopic March
Condition: Atopic Dermatitis
Intervention:
36 Recruiting Dose Escalation Study of QR-010 in Homozygous ΔF508 Cystic Fibrosis Patients
Condition: Cystic Fibrosis
Interventions: Drug: QR-010;   Drug: Placebo
37 Recruiting Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
Conditions: Spinal Muscular Atrophy;   Charcot-Marie-Tooth Disease;   Muscular Dystrophy;   Spinal Muscular Atrophy With Respiratory Distress 1;   Amyotrophic Lateral Sclerosis;   Motor Neuron Disease;   Neuromuscular Disease;   Peroneal Muscular Atrophy;   Fragile X Syndrome
Intervention: Other: sample collection
38 Not yet recruiting Safety, Tolerability, PK, and Activity of ATYR1940 in Patients With Muscular Dystrophy - Study Extension
Condition: Facioscapulohumeral Muscular Dystrophy
Intervention: Biological: ATYR1940
39 Not yet recruiting Urinary Biomarkers of OI Pathobiology
Condition: Osteogenesis Imperfecta
Intervention:
40 Not yet recruiting Dose-Titration and Open-label Extension Study of SRP-4045 in Advanced Stage Duchenne Muscular Dystrophy (DMD) Patients
Condition: Duchenne Muscular Dystrophy
Interventions: Drug: SRP-4045;   Drug: Placebo

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Indicates status has not been verified in more than two years