Hospital Sant Joan de Deu

Barcelona 8950

6 studies enrolling now · 35 studies all time

What they study most

AB Variant Gangliosidosis GM2, ATP-Binding Cassette Subfamily C Member 6 Deficiency, Achondroplasia, Adult Onset Still Disease, Angelman Syndrome, Arthritis, Juvenile, Becker Muscular Dystrophy, CLOVES Syndrome, Cancer, Clinical Oncology, Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF), Dermatofibrosarcoma

Studies at this site

• A Study of DB-OTO, an Adeno-Associated Virus (AAV) Based Gene Therapy, in Children/Infants, Adolescents and Adults With Hearing Loss Due to Otoferlin Mutations — Recruiting now
• REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome — Recruiting now
• A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation (The ReInspire Study) — Recruiting now
• A Study to Evaluate the Effect of Aficamten in Pediatric Patients With Symptomatic Obstructive Hypertrophic Cardiomyopathy (oHCM). — Recruiting now
• A Study of Pitolisant in Patients With Prader-Willi Syndrome — Recruiting now
• PROPEL - A Prospective Observational Patient Registry to Evaluate ENPP1 and ABCC6 Deficiency — Recruiting now
• Phase 3 Efficacy and Safety Study of GTX-102 in Pediatric Subjects With Angelman Syndrome (AS) — Running, not enrolling
• A Clinical Study in Children With Heterozygous Familial Hypercholesterolemia (HeFH) Aged 6 to 17 Treated Once Daily With Bempedoic Acid Oral Dosing (CLEAR Path 1) — Completed
• An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia — Running, not enrolling
• A Trial to Learn More About an Experimental Gene Therapy Called Bidridistrogene Xeboparvovec (SRP-9003) as a Possible Treatment for Limb Girdle Muscular Dystrophy 2E/R4 — Running, not enrolling
• A Study to Compare Safety and Efficacy of High Doses of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON) — Running, not enrolling
• Study of SRP-4045 (Casimersen) and SRP-4053 (Golodirsen) in Participants With Duchenne Muscular Dystrophy (DMD) — Completed
• DAYBREAK: A Study of Setmelanotide in Participants With Specific Gene Variants in the Melanocortin-4 Receptor (MC4R) Pathway — Completed
• Efficacy and Safety Study of Apremilast (CC-10004) in Pediatric Subjects From 6 Through 17 Years of Age With Moderate to Severe Plaque Psoriasis — Completed
• Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With DMD (RACER53) — Completed
• A Study for Participants With Spinal Muscular Atrophy (SMA) Who Previously Participated in Nusinersen (ISIS 396443) Investigational Studies — Completed
• An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy — Stopped early
• Study to Assess the Safety, Tolerability, and Efficacy of Viltolarsen in Ambulant and Non-Ambulant Boys With DMD (Galactic53) — Completed
• A Study to Compare the Efficacy and Safety of Ifosfamide and Etoposide With or Without Lenvatinib in Children, Adolescents and Young Adults With Relapsed and Refractory Osteosarcoma — Completed
• A Study to Investigate the Safety and Efficacy of Emapalumab, an Anti-IFN-gamma mAb in Patients With Systemic Juvenile Idiopathic Arthritis (sJIA) or Adult-onset Still's Disease (AOSD) Developing Macrophage Activation Syndrome/Secondary HLH (MAS/sHLH) — Completed
• A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia — Completed
• Natural History Study for Pediatric Patients With Early Onset of Either GM1 Gangliosidosis, GM2 Gangliosidoses, or Gaucher Disease Type 2 — Completed
• A Study to Assess the Efficacy and Safety of Nusinersen (ISIS 396443) in Participants With Later-onset Spinal Muscular Atrophy (SMA) — Completed
• Effects of Livoletide (AZP-531) on Food-related Behaviors in Patients With Prader-Willi Syndrome — Stopped early
• An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy — Stopped early
• Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) — Completed
• Phase 2B Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) — Stopped early
• Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) — Completed
• Study to Assess the Long Term Safety and Efficacy of UX007 in Participants With Glucose Type 1 Deficiency Syndrome (Glut1 DS) — Stopped early
• Study to Find a Safe Dose and Show Early Clinical Activity of Weekly Nab-paclitaxel in Pediatric Patients With Recurrent/ Refractory Solid Tumors — Completed
• A Study Comparing Two Treatments for Infants With Hydrocephalus — Completed
• Extension Study of Drisapersen in DMD Subjects — NO_LONGER_AVAILABLE
• Pediatric Schizophrenia Efficacy and Safety Study — Completed
• SMP-986 Phase 2 Proof of Concept in Patients With Overactive Bladder Syndrome (OABS) — Completed
• Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in Children — Completed