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1969 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting The NIH Exercise Therapy for Advanced Lung Disease Trials: Response and Adaptation to Aerobic Exercise in Patients With Interstitial Lung Disease
Conditions: Interstitial Lung Disease;   Idiopathic Pulmonary Fibrosis;   Interstitial Pneumonitis;   Desquamative Interstitial Pneumonia
Interventions: Other: Aerobic Exercise Training;   Other: Education
22 Unknown  Safety and Efficacy of Bone Marrow Derived Autologous Cells Treatment of Cerebral Palsy in Subjects Above 15 Years
Condition: Ataxic Infantile Cerebral Palsy
Intervention: Biological: stem cell (MNCs )
23 Recruiting UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Conditions: Hepato/Renal Fibrocystic Disease;   Autosomal Recessive Polycystic Kidney Disease;   Joubert Syndrome;   Bardet Biedl Syndrome;   Meckel-Gruber Syndrome;   Congenital Hepatic Fibrosis;   Caroli Syndrome;   Oro-Facial-Digital Syndrome Type I;   Nephronophthisis;   Glomerulocystic Kidney Disease
Intervention:
24 Unknown  Face Anthropometric Pattern Recognition Technology for Computer Aided Diagnosis of Human Genetic Disorders.
Condition: Genetic Disorders
Intervention:
25 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
26 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:
27 Not yet recruiting Study of Pharmacokinetics and Preliminary Efficacy in Patients With Niemann-Pick C1
Condition: Niemann-Pick Disease, Type C1
Intervention: Drug: Hydroxypropyl-beta-cyclodextrin
28 Not yet recruiting Hyperpolarized Xenon Imaging in Patients With Cystic Fibrosis
Condition: Cystic Fibrosis
Intervention: Other: Hyperpolarized Xenon MRI
29 Not yet recruiting Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite Instability
Conditions: Colon Adenocarcinoma;   DNA Repair Disorder;   Lynch Syndrome;   Microsatellite Instability;   Stage IIIA Colon Cancer;   Stage IIIB Colon Cancer;   Stage IIIC Colon Cancer
Interventions: Drug: Atezolizumab;   Drug: Fluorouracil;   Other: Laboratory Biomarker Analysis;   Drug: Leucovorin Calcium;   Drug: Oxaliplatin;   Other: Quality-of-Life Assessment
30 Not yet recruiting German Pediatric Hemophilia Research Database
Conditions: Hemophilia A;   Hemophilia B;   Children;   Drug Specific Antibodies
Intervention: Other: documentation only
31 Recruiting A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Insufficiency Patients
Conditions: Primary Ovarian Insufficiency;   Premature Ovarian Failure;   Infertility
Intervention: Biological: human amniotic epithelial cells (hAECs) transplantation
32 Not yet recruiting An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes
Condition: Periodic Fevers Syndrome
Intervention: Biological: canakinumab
33 Recruiting The Role of Bacterial Toxins in Human Skin Disease
Conditions: Atopic Dermatitis;   Psoriasis
Intervention: Procedure: blood draw/skin biopsy
34 Not yet recruiting Lipoic Acid Supplement for Cystine Stone
Condition: Cystinuria
Interventions: Dietary Supplement: Alpha lipoic acid;   Drug: Placebo
35 Not yet recruiting The Pharmacokinetics of Cannabidiol (CBD) and Its Effects in Children With Severe Epilepsy
Conditions: Dravet Syndrome;   Lennox Gastaut Syndrome
Intervention:
36 Not yet recruiting Topical NanoDox® for Atopic Dermatitis
Condition: Dermatitis, Atopic
Intervention: Drug: Nanodox 1% (doxycycline monohydrate hydrogel)
37 Not yet recruiting Effect of Oral Steroids on Skin Outcomes in Atopic Dermatitis
Condition: Atopic Dermatitis
Interventions: Drug: Prednisone;   Drug: Placebo Control
38 Recruiting Study of the Frequency and of the Regulatory Function of Positive T Lymphocytes Dual CD4CD8aa (DP8a) Specific to a Bacteria of the Intestinal Microbiota (Faecalibacterium Prausnitzii) in Atopic Dermatitis, Asthma and Allergic Rhinitis
Conditions: Allergic Asthma;   Allergic Rhinitis;   Atopic Dermatitis
Intervention: Genetic: double positive T cells (CD4 + / CD8 +) to the specific peripheral blood of F prauznitzii analyse
39 Recruiting Inflammatory Markers in Broncho-alveolar Lavage Fluid as Risk Factors for Lung Disease in Infants With Cystic Fibrosis: the I-BALL Study
Condition: Cystic Fibrosis
Intervention:
40 Not yet recruiting An Open-label Extension Study To Evaluate Safety Of PF-06252616 In Boys With Duchenne Muscular Dystrophy
Condition: Duchenne Muscular Dystrophy
Intervention: Biological: PF-06252616

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