1669 studies found for:    Open Studies | "Genetic Diseases, Inborn"
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Rank Status Study
21 Recruiting Growth and Development Study of Myozyme (Alglucosidase Alfa).
Conditions: Pompe Disease;   Glycogen Storage Disease Type II (GSD-II);   Acid Maltase Deficiency Disease
Intervention: Biological: alglucosidase alfa
22 Unknown  Randomized Study of Alendronate in Adult Patients With Cystic Fibrosis Related Osteoporosis
Conditions: Osteoporosis;   Cystic Fibrosis
Interventions: Drug: alendronate sodium;   Drug: calcium carbonate;   Drug: cholecalciferol
23 Recruiting The Cancer of the Pancreas Screening-5 CAPS5)Study
Conditions: Pancreas Cancer;   Peutz-Jeghers Syndrome;   Gene Mutation;   Germline Mutation Carrier;   Lynch Syndrome
Intervention: Drug: Human synthetic secretin
24 Recruiting Review of Kidney Biopsies of Dent Disease Patients
Condition: Dent Disease
Intervention: Procedure: Renal Biopsy
25 Recruiting Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
Conditions: Down Syndrome;   Fetal Aneuploidy
Intervention:
26 Unknown  Validation of Saliva in the Esoterix Genetic Laboratories Fragile X Assay
Condition: Fragile X Syndrome
Intervention:
27 Recruiting Muco Smartphone Exacerbation
Condition: Cystic Fibrosis
Intervention: Device: Application of Smartphone
28 Recruiting Evaluation of Objective Perimetry Using Chromatic Multifocal Pupillometer
Conditions: Retinal Dystrophies;   Retinitis Pigmentosa;   Glaucoma
Intervention:
29 Recruiting Screening for Fabry Disease in a Pediatric Population at Risk
Conditions: Chronic Pain in the Extremities;   Chronic Abdominal Pain;   Fabry Disease
Intervention: Other: Screening for Fabry disease
30 Recruiting Lysosomal Acid Lipase (LAL) Deficiency Registry
Conditions: Lysosomal Acid Lipase Deficiency;   Cholesterol Ester Storage Disease;   Wolman Disease;   Acid Cholesteryl Ester Hydrolase Deficiency, Type 2;   Acid Lipase Deficiency;   LIPA Deficiency
Intervention:
31 Recruiting REGISTRY - an Observational Study of the European Huntington's Disease Network (EHDN)
Conditions: Huntington Disease;   Huntington's Disease
Intervention:
32 Recruiting Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum
Condition: Xeroderma Pigmentosum
Intervention:
33 Recruiting A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS)
Condition: Down Syndrome
Interventions: Drug: Placebo;   Drug: RG1662
34 Recruiting Intra-monocyte Imiglucerase Kinetics in Gaucher Disease
Condition: Gaucher Disease
Intervention: Drug: Imiglucérase (drug) pharmacokinetics
35 Recruiting Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
Condition: X-linked Hypohidrotic Ectodermal Dysplasia
Intervention: Drug: EDI200
36 Recruiting Potential Research Study Participant Registry
Conditions: Acne;   Actinic Keratosis;   Dysplastic Nevi;   Eczema;   Psoriasis;   Skin Cancer;   Rosacea;   Leg Ulcers;   Foot Ulcers;   Atopic Dermatitis
Intervention:
37 Recruiting Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation
Condition: Congenital Disorders of Glycosylation
Intervention:
38 Unknown  Clinical Trial of Factor XIII Concentrate
Conditions: Hemophilia;   Factor XIII Deficiency
Intervention: Drug: Fibrogammin P
39 Recruiting Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity
Conditions: Prader-Willi Syndrome;   Obesity
Interventions: Other: Group 1;   Other: Group 2
40 Not yet recruiting Pilot Study of an Innovative Physiotherapy in Patients With Infantile Spinal Muscular Atrophy (SMA)
Condition: Infantile Spinal Muscular Atrophy of Type 2 or 3
Intervention: Other: Physical exercise in a swimming pool during 6 months

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Indicates status has not been verified in more than two years