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Found 960 studies with search of: Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
1 Recruiting Tissue Specimen Collection for Study of Inherited Diseases Involving Non-muscle Gene Mutations
Conditions: Inborn Genetic Diseases;   Pentalogy of Cantrell
Intervention:
2 Recruiting Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients
Conditions: Retinitis Pigmentosa;   Retinal Degeneration
Intervention: Device: Device name: "Retina Implant model Alpha". Surgical implantation of medical device into eye
3 Recruiting Review of Safety Using Rilonacept in Preventing Gout Exacerbations (RE-SURGE)
Condition: Gout
Interventions: Biological: Rilonacept;   Other: Placebo
4 Recruiting Study Utilizing Rilonacept in Gout Exacerbations
Condition: Acute Gout Flare
Interventions: Drug: placebo and indomethacin;   Drug: rilonacept and indomethacin;   Drug: rilonacept and placebo
5 Recruiting PREventative Study Against URate-Lowering Drug-Induced Gout Exacerbations (PRE-SURGE 2)
Condition: Gout
Interventions: Drug: placebo;   Drug: rilonacept
6 Recruiting Prevention of Progression of Duodenal Adenomas in Patients With Familial Adenomatous Polyposis
Conditions: Familial Adenomatous Polyposis;   Duodenal Neoplasms;   Duodenal Polyps
Interventions: Drug: Celecoxib;   Drug: Ursodeoxycholic acid;   Drug: Placebo
7 Recruiting Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
8 Recruiting Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death
Conditions: Lymphocyte Homeostasis;   Genetic Diseases
Intervention:
9 Recruiting Studies of Children With Metabolic and Other Genetic Disorders
Conditions: Genetic Disorder;   Metabolic Disease
Intervention:
10 Recruiting The Effects of Maternal Nutrition During Pregnancy and Breast Feeding on the Risk of Allergic Disease in Child
Conditions: Atopic Eczema;   Rhinitis;   Asthma
Interventions: Behavioral: Dietary counselling and products with favourable fat content;   Dietary Supplement: Placebo capsules
11 Recruiting Pompe Disease Registry
Conditions: Glycogen Storage Disease Type II;   Pompe Disease
Intervention:
12 Recruiting Lipid Efficacy and Safety in Patients With Mixed Hyperlipidemia
Condition: Mixed Hyperlipemia
Interventions: Drug: MK0524B;   Drug: Atorvastatin
13 Recruiting Optivate in People With Von Willebrand Disease Undergoing Surgery
Condition: Von Willebrand Disease
Intervention: Drug: Optivate
14 Recruiting Effect of S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine
Condition: Hyperhomocysteinemia
Intervention: Dietary Supplement: S-adenosylmethionine
15 Recruiting Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1
Conditions: Growth Failure;   X-linked Severe Combined Immunodeficiency (XSCID);   Growth Hormone Resistence
Interventions: Drug: Increlex;   Procedure: Arginine Provocation Test;   Procedure: Clonidine Provocation Test;   Procedure: IGF-1 Generation Test;   Drug: IVIG;   Procedure: Haplo-Identical Bone Marrow Transplant
16 Recruiting Facial Expression Recognition of Emotion and Categorization of Emotional Words in Gilles de la Tourette's Syndrome
Condition: Gilles de la Tourette's Syndrome
Intervention: Behavioral: Facial expression recognition of emotion
17 Recruiting Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)
Conditions: Tuberous Sclerosis;   Subependymal Giant Cell Astrocytoma
Interventions: Drug: Everolimus (RAD001);   Other: Placebo
18 Recruiting Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Condition: Phenylketonuria
Intervention: Drug: Kuvan
19 Recruiting Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
Condition: Williams Beuren Syndrome
Interventions: Drug: Minoxidil;   Drug: Placebo
20 Recruiting Use of Ultrase MT12 in Young Cystic Fibrosis Children
Conditions: Cystic Fibrosis;   Pancreatic Insufficiency
Intervention: Drug: Pancrelipase

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