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Found 175 studies with search of:   "l1 syndrome" OR "genetic diseases, x-linked"
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Rank Status Study
1 Recruiting Genetic Studies of X-Linked Lymphoproliferative Disease
Conditions: X-Linked Lymphoproliferative Disease;   Lymphoproliferative Disease;   Genetic Diseases, X-Linked
Intervention:
2 Active, not recruiting DHA and X-Linked Retinitis Pigmentosa
Conditions: Retinitis Pigmentosa;   X-Linked Genetic Diseases
Intervention: Drug: docosahexaenoic acid
3 Active, not recruiting Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation
Conditions: I Cell Disease;   Fucosidosis;   Globoid Cell Leukodystrophy;   Adrenoleukodystrophy;   Mannosidosis;   Niemann-Pick Disease;   Pulmonary Complications;   Mucopolysaccharidosis I;   Mucopolysaccharidosis VI;   Metachromatic Leukodystrophy;   Gaucher's Disease;   Wolman Disease
Intervention:
4 Completed A Study of AT1001 in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: AT1001 (migalastat hydrochloride)
5 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
6 Completed Phase I/II Study of Monoclonal Factor IX Concentrate for Factor IX Deficiency
Conditions: Hemophilia B;   Factor IX Deficiency
Intervention: Drug: monoclonal factor IX replacement therapy
7 Enrolling by invitation Gait Evaluation in Haemophiliac Patients
Conditions: Haemophilia A;   Haemophilia B
Intervention: Device: custom-molded insoles and custom-molded shoes
8 Completed Stem Cell Transplant for Inborn Errors of Metabolism
Conditions: Adrenoleukodystrophy;   Metachromatic Leukodystrophy;   Globoid Cell Leukodystrophy;   Gaucher's Disease;   Fucosidosis;   Wolman Disease;   Niemann-Pick Disease;   Batten Disease;   GM1 Gangliosidosis;   Tay Sachs Disease;   Sandhoff Disease
Interventions: Procedure: Stem Cell Transplant;   Drug: Busulfan, Cyclophosphamide, ATG
9 Recruiting Molecular Analysis of Patients With Neuromuscular Disease
Conditions: Limb-Girdle Muscular Dystrophy;   Duchenne Muscular Dystrophy;   Becker Muscular Dystrophy;   Facioscapulohumeral Muscular Dystrophy
Intervention:
10 Recruiting Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study
Condition: Fabry Disease
Interventions: Drug: agalsidase alfa (Replagal®) and agalsidase beta (Fabrazyme®);   Drug: Enzyme Replacement Therapy (ERT)
11 Recruiting Use of G-CSF to Obtain Blood Cell Precursors
Conditions: Chronic Granulomatous Disease;   Healthy;   Immunologic Disease;   Leukocyte Adhesion Deficiency Syndrome;   Severe Combined Immunodeficiency
Intervention:
12 Completed Alpha-Galactosidase A Replacement Therapy for Fabry Disease
Condition: Fabry Disease
Intervention: Drug: DRX005B
13 Completed Study of the Pathogenesis of Rett Syndrome
Condition: Rett Syndrome
Interventions: Drug: dextromethorphan;   Drug: topiramate;   Drug: Donepezil
14 Completed Dosing Study of Replagal in Patients With Fabry Disease
Condition: Fabry Disease
Intervention: Drug: Replagal
15 Recruiting A Study of the Effects of Fabrazyme on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants
Condition: Fabry Disease
Intervention: Drug: Fabrazyme (agalsidase beta)
16 Completed A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD)
Conditions: Asperger Syndrome;   Developmental Disabilities;   DCild Development Disorders, Pervasive;   Autistic Disorder;   Rett Syndrome
Intervention: Drug: risperidone
17 Completed A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD)
Condition: Muscular Dystrophy, Duchenne
Interventions: Drug: glutamine;   Drug: creatine monohydrate
18 Completed Study Evaluating of Recombinant Human Factor IX (BeneFIX) and a New Formulation of BeneFIX (rFIX-R) in Moderate to Severe Hemophilia B
Condition: Hemophilia B
Interventions: Drug: rFIX;   Drug: rFIX-R
19 Completed Predictors of Caregiver Adaptation to Pervasive Developmental Disorders
Conditions: Autism;   Asperger's Syndrome;   Rett's Disorder
Intervention:
20 Recruiting Gene Transfer for Subjects With Hemophilia B Factor IX Deficiency
Condition: Hemophilia B
Interventions: Biological: AAV2-hFIX16;   Biological: AAV2-hFIX16;   Biological: AAV2-hFIX16

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