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1761 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting A Single-Stage, Adaptive, Open-label, Dose Escalation Safety and Efficacy Study of AADC Deficiency in Pediatric Patients
Condition: AADC Deficiency
Intervention: Drug: AAV2-hAADC
22 Not yet recruiting Review of French Cases of Glutathione Synthetase Deficiency
Condition: The Glutathione Synthetase Deficiency
Intervention:
23 Recruiting Study of ALXN1101 in Neonates With Molybdenum Cofactor Deficiency (MOCD) Type A
Condition: Molybdenum Cofactor Deficiency, Type A
Intervention: Drug: ALXN1101
24 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
25 Recruiting Phase I/II Trial of Everolimus in Combination With Lonafarnib in Progeria
Condition: Progeria
Intervention: Drug: Everolimus and lonafarnib
26 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
27 Recruiting Molecular and Cellular Mechanisms of Lysosomal Storage Diseases
Condition: Lysosomal Storage Disorders
Intervention:
28 Recruiting Apotransferrin in Atransferrinemia
Condition: Congenital Atransferrinemia
Intervention: Drug: Human apotransferrin
29 Recruiting N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia
Condition: Inborn Errors of Metabolism
Intervention: Drug: N-carbamylglutamate
30 Not yet recruiting A Safety, Pharmacokinetic, Single Ascending Dose Study of Tesevatinib in Pediatric Subjects With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Condition: Polycystic Kidney, Autosomal Recessive
Intervention: Drug: Tesevatinib
31 Recruiting Acute Nutritional Ketosis in GSD IIIa
Condition: Glycogen Storage Disease IIIA
Intervention: Other: physical exercise
32 Recruiting SCD-PROMIS: A Software Platform to Enhance Self-efficacy and Patient-provider Engagement for Patients With Sickle Cell Pain
Conditions: Sickle Cell Disease;   Anemia;   Anemia, Hemolytic;   Anemia, Sickle Cell;   Hematologic Diseases
Intervention: Other: PROMIS for Pain Management App
33 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
34 Recruiting Autologous Adipose-Derived Adult Stem Cell Transplantation for Corneal Diseases
Conditions: Hereditary Corneal Dystrophy;   Keratoconus
Interventions: Procedure: Lipoaspiration;   Procedure: Transplantation
35 Not yet recruiting Triheptanoin in Mc Ardle
Condition: Glycogen Storage Disease Type V
Interventions: Drug: Triheptanoin;   Drug: Placebo oil
36 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)
37 Recruiting Glycogen Storage Disease Type IV Database
Condition: Glycogen Storage Disease Type IV
Intervention: Other: No intervention
38 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
39 Recruiting Glycosade v UCCS in the Dietary Management of Hepatic GSD
Condition: Glycogen Storage Disease
Intervention: Dietary Supplement: Medical Food - Glycosade
40 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

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