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1632 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Study of ALXN1101 in Neonates With Molybdenum Cofactor Deficiency (MOCD) Type A
Condition: Molybdenum Cofactor Deficiency, Type A
Intervention: Drug: ALXN1101
22 Not yet recruiting Electronic Nose and Fetal Chromosomal Disorders
Condition: Detecting Abnormal Fetal Karyotype by the Electronic Nose
Intervention: Other: observational study done only in women candidate for amniocentesis
23 Recruiting Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria
Condition: Progeria
Intervention: Drug: Everolimus and lonafarnib
24 Recruiting Newborn Screening for Aromatic L-amino Acid Decarboxylase Deficiency
Condition: Aromatic L-amino Acid Decarboxylase Deficiency
Intervention:
25 Recruiting Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
Condition: Glut1 Deficiency Syndrome
Intervention: Drug: GLUT1 DS
26 Recruiting Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
Condition: Lysosomal Storage Disorders
Intervention:
27 Recruiting Apotransferrin in Atransferrinemia
Condition: Congenital Atransferrinemia
Intervention: Drug: Human apotransferrin
28 Recruiting N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
Condition: Inborn Errors of Metabolism
Intervention: Drug: N-carbamylglutamate
29 Not yet recruiting Prenatal Screening, Diagnosis and Intrauterine Intervention of Fetal Abnormal Chromosome and Structure in Twins Pregnancy
Conditions: Chromosome Abnormality;   Twin Pregnancy With Antenatal Problem
Interventions: Procedure: Fetal Selective Reduction Technology;   Drug: Potassium Chloride
30 Recruiting Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases
Conditions: Hereditary Corneal Dystrophy;   Keratoconus
Interventions: Procedure: Lipoaspiration;   Procedure: Transplantation
31 Not yet recruiting Triheptanoin in Mc Ardle
Condition: Glycogen Storage Disease Type V
Interventions: Drug: Triheptanoin;   Drug: Placebo oil
32 Not yet recruiting The Value of Prenatal Ultrasound in Complicated Twin Pregnancy and Its Correlation With Chromosomal Anomalies
Condition: Complicated Twin Pregnancy
Intervention: Other: ultrasound (observation)
33 Recruiting Glycogen Storage Disease Type IV Database
Condition: Glycogen Storage Disease Type IV
Intervention: Other: No intervention
34 Recruiting The Effect of Triheptanoin in Adults With McArdle Disease (Glycogen Storage Disease Type V)
Condition: Glycogen Storage Disease Type V
Interventions: Drug: Triheptanoin;   Other: Placebo oil
35 Recruiting Glycosade v UCCS in the Dietary Management of Hepatic GSD
Condition: Glycogen Storage Disease
Intervention: Dietary Supplement: Medical Food - Glycosade
36 Recruiting A Pilot, Phase I/II Study of the Amino Acid Leucine in the Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
Conditions: Diamond Blackfan Anemia;   Blackfan Diamond Syndrome;   DBA;   Congenital Hypoplastic Anemia;   Pure Red Cell Aplasia
Intervention: Drug: leucine
37 Recruiting Reduced Intensity Conditioning (RIC) Regimen for Patients With Non-malignant Disorders
Conditions: Non Malignant Diseases;   Immunodeficiencies;   Hemoglobinopathies
Interventions: Drug: RIC: Distal Campath;   Drug: RIC:Intermediate Campath;   Drug: RIC: Mini Busulfan
38 Recruiting Campath/Fludarabine/Melphalan Transplant Conditioning for Non-Malignant Diseases
Conditions: Metabolic Disorders;   Hematologic, Immune, or Bone Marrow Disorders;   Hemoglobinopathies;   Non-malignant Disorders
Interventions: Drug: Transplant conditioning regimen of alemtuzumab, fludarabine, and melphalan;   Drug: Transplant conditioning regimen of hydroxyurea, campath, fludarabine, thiotepa, & melphalan
39 Recruiting Genomic Sequencing in Acutely Ill Neonates
Conditions: Diseases/Diagnoses;   Genetic Disease
Intervention: Other: Rapid whole genome sequencing (StatSeq)
40 Recruiting Prospective, Non-interventional Study to Evaluate the Effectiveness of Elocta Compared to Conventional Factor Products
Condition: Hemophilia A
Interventions: Drug: efmoroctocog alfa;   Drug: Factor VIII

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Study has passed its completion date and status has not been verified in more than two years.