Genetic Phenomena

34 trials 15 recruiting

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An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-b… Pending

2025-524635-39-00 X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) 7
Assess effect and safety of intra-arterial autologous mesoangioblast administration to the upper arm of m.3243A>G mutation carriers Pending

2024-515129-27-00 m.3243A>G mutation causing mitochondrial myopathy 7
A Multicentric, Drug-Repositioning, Self Controlled Case Series (SCCS) Clinical Trial to Evaluate the Efficacy and Safety of Perampanel in I… Pending

2025-520611-14-00 White-Sutton syndrome (POGZ-Related Disorder) 4
A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Safety and Efficacy of Vosoritide in Infants and … Recruiting

2024-512261-14-00 Hypochondroplasia 4 2025-12-22
Phase 2a Study of VX-407 in Subjects with ADPKD Who Have a Subset of PKD1 Gene Variants Recruiting

2024-517393-13-00 Autosomal Dominant Polycystic Kidney Disease (ADPKD) 4 2025-12-02
A Phase 1-2, Double-Blind, MAD Study of ION440 in MDS Recruiting

2023-507192-22-00 Methyl CpG binding protein 2 (MECP2) Duplication Syndro 7 2025-10-24
Donidalorsen Treatment in Children with Hereditary Angioedema Recruiting

2025-523499-22-00 Hereditary Angioedema (HAE) 5 2026-04-01
Early-stage clinical trial investigating the individual and combined effect of two drugs, senicapoc and perampanel, as part of the treatment… Recruiting

2025-522605-37-00 Glioblastoma 3 2026-03-01
The LESS-AD trial: A study on the use of levetiracetam to prevent seizures in adults with Down syndrome and Alzheimer's disease. Recruiting

2024-516148-24-00 Down syndrome 5 2025-12-16
A Phase 2 Study of MZE829 in Adults with APOL1 Kidney Disease Recruiting

2024-517525-10-00 APOL1 Kidney Disease (AKD) 4 2025-09-15
A pilot, multicentre, controlled, open-label study evaluating 24 months of lithium carbonate treatment in patients with TBR1-related neuroco… Recruiting

2024-513955-34-00 Proven pathogenic or probably pathogenic TBR1 variant 9 2025-09-09
First in human pilot study to assess the safety and efficacy of dendritic cells loaded with frameshift derived neopeptides for the preventio… Recruiting

2025-521109-42-00 Lynch Syndrome 1 2025-08-01
A Phase 3 Efficacy and Safety Study of Pitolisant in Patients with Prader-Willi Syndrome Recruiting

2023-508307-21-00 Prader-Willi syndrome 5 2025-03-19
Pragmatic clinical trial to assess the utility of SLCO1B1, ABCG2, and CYP2C9 preemtive genotyping and pharmacogenetics training on the incid… Recruiting

2023-506814-31-01 Cardiovascular risk which needs primary or secundary pr 6 2024-06-25
A Study of DB-OTO, an Adeno-Associated Virus (AAV) Based Gene Therapy, in Children/Infants with Hearing Loss Due to Otoferlin Pathogenic Var… Recruiting

2024-511342-40-00 Congenital Hearing Loss Secondary to Biallelic Pathogen 7 2024-03-04
Evaluation of the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polym… Recruiting

2022-500197-34-01 Megalencephaly-CApillary malformation Polymicrogyria sy 4 2022-11-03
Phase 2/3 Adaptive Study of VX-147 in Adults and Pediatric Subjects With APOL1-mediated Proteinuric Kidney Disease Recruiting

2024-515633-15-00 APOL1-mediated Proteinuric Kidney Disease (AMKD) 10 2022-10-25
Clinical study testing the efficacy and safety of Ravulizumab in pediatric patients with NMOSD Recruiting

2023-508534-33-00 Neuromyelitis Optica Spectrum Disorder (NMOSD) 10 2022-06-16
An Open-Label, Long Term Safety and Efficacy Study of Donidalorsen in the Prophylactic Treatment of Hereditary Angioedema (HAE) Ended

2023-509201-77-00 Hereditary Angioedema 5 2022-11-02
Study to Evaluate the Safety, Tolerability, and Efficacy of 2000 mg/kg of Trappsol® Cyclo™ and Standard of Care Compared to Placebo and Stan… Ended

2024-518266-27-00 Niemann Pick Disease Type C1 5 2022-02-02
An extension study for patients with PROS or Proteus Syndrome currently treated with miransertib Ended

2022-500689-87-00 PIK3CA-related overgrowth spectrum (PROS) and Proteus S 4 2021-11-05
Capivasertib + Abiraterone as Treatment for Patients with Metastatic Hormone-sensitive Prostate Cancer Characterised by PTEN deficiency (CAP… Ended

2023-504998-20-00 Metastatic Hormone-sensitive Prostate Cancer Characteri 5 2020-09-18
A clinical trial to evaluate the effect of OTL-200, a gene therapy treatment in patients with Late Juvenile (LJ) Metachromatic Leukodystroph… Ended

2024-511971-13-00 Metachromatic Leukodystrophy (MLD) is an autosomal rece 5 2020-09-11
Gene therapy study with autologous hematopoietic stem cells for patients affected by MPS-IH Ended

2024-514870-29-00 Mucopolysaccharidosis type I Hurler 7 2018-05-14