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Clinical Trials for Genetic Diseases, Inborn

• MCLENA-2: A Phase II Clinical Trial for the Assessment of Lenalidomide in Patients With Mild Cognitive Impairment Due to Alzheimer's Disease
• Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers
• Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
• Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients
• SEQUence of Endocrine Therapy in Advanced Luminal Breast Cancer (SEQUEL-Breast)
• Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Early to Moderate Vision Loss (Celeste)
• Study to Evaluate the Efficacy Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene With Advanced Vision Loss (Sirius)
• A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy (HOPE-3)
• A Study of Lebrikizumab (LY3650150) in Combination With Topical Corticosteroids in Japanese Participants With Moderate-to-Severe Atopic Dermatitis
• BSEP Function Rescue During Childhood Inhereditary Cholestatic Diseases
• A Phase 2 Study to Evaluate the Safety, Tolerability, PK and PD in Cystic Fibrosis Patients With at Least 1 G542X Allele
• A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene
• A Phase 2 Study of ELX-02 in Patients With Nephropathic Cystinosis
• Long Term Extension Study in Patients With Primary Hyperoxaluria
• A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
• Extension Study to Study PQ-110-001 (NCT03140969)
• Single Ascending Dose Study in Participants With LCA10
• A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
• A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2
• Study to Evaluate Safety and Tolerability of QR-421a in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene
• Study Evaluating Efficacy and Safety of PF-04965842 and Dupilumab in Adult Subjects With Moderate to Severe Atopic Dermatitis on Background Topical Therapy
• Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia
• Study to Investigate Efficacy and Safety of PF-04965842 in Subjects Aged 12 Years and Over With Moderate to Severe Atopic Dermatitis With the Option of Rescue Treatment in Flaring Subjects
• Effect of Benralizumab in Atopic Dermatitis
• A Trial of Metformin in Individuals With Fragile X Syndrome
• A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
• Phase 1 Study of ELX-02 in Healthy Adult Subjects
• Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria
• Phase 1 Study of ELX-02 in Healthy Adults
• Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
• Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity
• Safety, Tolerability, Pharmacokinetics of ELX-02 in Healthy Adult Volunteers
• Efficacy and Safety of NFC-1 in Adolescents With Genetic Disorders Impacting mGluR and ADHD
• Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
• Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
• Pharmacological Treatment of a Rare Genetic Disease: N-acetylcysteine in Myopathy Associated Selenoprotein N-related Myopathy (SEPN1-RM)
• Doxycycline Treatment in Mild Thyroid-Associated Ophthalmopathy
• An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy
• Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome
• Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
• EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
• Growth Response in Girls With Turner Syndrome
• Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy
• Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome
• Effects of Treatments on Atopic Dermatitis
• Non-interventional Study of Patients Using Norditropin® for Growth Hormone Deficiency or Turner Syndrome
• Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency
• Safety and Efficacy of Long-term Somatropin Treatment in Children
• Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658
• Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome
• Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome
• Use of Somatropin in Turner Syndrome
• Special Survey for Long Term Application
• A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin
• Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
• Bioequivalence of Two Somatropin Products (Norditropin® Versus Genotropin®) in Healthy Adult Volunteers
• Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
• Usability and Tolerability of the Norditropin NordiFlex® Injection Device in Children Never Previously Treated With Growth Hormone
• Observational Prospective Study on Patients Treated With Norditropin®
• A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration
• Retrospective Observational Study on Efficacy and Safety of Norditropin® in Children With Prader-Willi Syndrome
• An Open-label Extension Study to Assess the Long-term Safety and Efficacy of ISIS 301012 (Mipomersen) in Patients With Familial Hypercholesterolemia or Severe-Hypercholesterolemia
• Study to Assess the Safety and Efficacy of ISIS 301012 (Mipomersen) in Homozygous Familial Hypercholesterolemia
• Isolated ACTH Deficiency in Patients With Hashimoto Thyroiditis
• Open Label Extension of ISIS 301012 (Mipomersen) to Treat Familial Hypercholesterolemia
• High-Density Lipoprotein (HDL) Treatment Study
• Measure Liver Fat Content After ISIS 301012 (Mipomersen) Administration
• Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant and Cyclophosphamide, Mycophenolate Mofetil, Tacrolimus, and Sirolimus in Treating Patients With Primary Immunodeficiency Disorders or Nonca
• Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS)
• Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema
• Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema
• Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema
• DHA and X-Linked Retinitis Pigmentosa