Clinical trials: Genetic Mutations
High Myopia, Gene Mutations
TGFB1 And LAMA1 Gene Polymorphisms in High Myopia
The investigators aimed to investigate TGFB1 and LAMA1 gene polymorphisms in children with high myopia in order to determine the genetic basis of large myopic shifts causing severe visual impairment and complications.
- Trial name
- NCT03451877
- Testing
- TGFB1 AND LAMA1 GENE POLYMORPHISMS
- Volunteers
- 151 people, healthy volunteers welcome
- Sponsor
- Ege University
Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant
Natural History of Autosomal Dominant Optic Atrophy (ADOA), Caused by OPA1 Mutation
The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
- Conditions
- Autosomal Dominant Optic Atrophy, Optic Atrophy, Autosomal Dominant, Optic Atrophies, Hereditary, Kjer Optic Atrophy
- Trial name
- NCT06140329
- Where
- 7 sites in United States, Australia and 4 more
- Volunteers
- 1 people
- Sponsor
- PYC Therapeutics
Retinitis Pigmentosa, Usher Syndrome Type 2
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)
The purpose of this study is to evaluate the efficacy safety and tolerability of QR-421a administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene with…
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Deaf Blind, Retinal Disease
- Trial name
- NCT05176717
- Testing
- QR-421a
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 5 people
- Sponsor
- Laboratoires Thea
Congenital Hypothyroidism
TG Gene Mutations and Congenital Hypothyroidism
The aim of this study was to identify mutations in the thyroglobulin gene that might be present in patients with fetal goiter and congenital goiter hypothyroidism.
- Trial name
- NCT00493103
- Volunteers
- healthy volunteers welcome
- Sponsor
- University of Sao Paulo
Cystic Fibrosis
Study of VX-661 Alone and in Combination With Ivacaftor in Subjects Homozygous or Heterozygous to the F508del-Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) Mutation
The purpose of this study is to evaluate the safety, efficacy, pharmacokinetics (PK), and pharmacodynamics (PD) effects of VX-661 alone and when coadministered with ivacaftor in participants with cystic fibrosis (CF) who are…
- Trial name
- NCT01531673
- Testing
- VX-661, Ivacaftor
- Where
- 36 sites in United States, Canada and 2 more
- Volunteers
- 194 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
A Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Heterozygous for the F508del-CFTR Mutation
Study to evaluate the efficacy of VX-661 in combination with ivacaftor (IVA, VX-770) through Week 12 in participants with cystic fibrosis (CF) who are heterozygous for the F508del mutation on the CF transmembrane conductance…
- Trial name
- NCT02516410
- Testing
- VX-661 plus ivacaftor combination, Ivacaftor
- Where
- 41 sites in United States, Australia and 5 more
- Volunteers
- 168 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
X-Linked Hypophosphatemia
Registry for Patients With X-Linked Hypophosphatemia
This is an international, multicentre, prospective, non-interventional, observational Registry of patients with X-Linked hypophosphatemia (XLH).
- Trial name
- NCT03193476
- Where
- 118 sites in Belgium, Bulgaria and 18 more
- Volunteers
- 1,489 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor
International PPB/DICER1 Registry
PPB has strong genetic implications, with a unique set of conditions in an individual or their family, occurring mostly in childhood and adolescence.
- Conditions
- Pleuropulmonary Blastoma, Sertoli-Leydig Cell Tumor, DICER1 Syndrome, Cystic Nephroma
- Trial name
- NCT03382158
- Where
- United States
- Volunteers
- 3,400 people, healthy volunteers welcome
- Sponsor
- Children's Hospitals and Clinics of Minnesota
Thalassemia
iHSCs With the Gene Correction of HBB Intervent Subjests With β-thalassemia Mutations
This is a single centre、single arm、open-label study，to investigate the safety and efficacy of the gene correction of HBB in patient-specific iHSCs using CRISPR/Cas9.
- Trial name
- NCT03728322
- Testing
- iHSCs treatment group
- Volunteers
- 12 people
- Sponsor
- Allife Medical Science and Technology Co., Ltd.
Congenital Myasthenic Syndrome
A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4
Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7…
- Trial name
- NCT06078553
- Where
- 33 sites in United States, Austria and 10 more
- Volunteers
- 152 people
- Sponsor
- argenx
Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer
MyVHL: Patient Natural History Study
MyVHL is a multi-patient database which helps researchers identify patterns across VHL patients. MyVHL provides you -and researchers -with more complete information about VHL, like how your lifestyle, medications, and other…
- Conditions
- Von Hippel-Lindau Disease, Hereditary Leiomyomatosis and Renal Cell Cancer, Birt-Hogg-Dube Syndrome, SDHB Gene Mutation
- Trial name
- MyVHL (NCT03749980)
- Where
- United States
- Volunteers
- 10,000 people, healthy volunteers welcome
- Sponsor
- Joshua Mann, MPH
Epidermolysis Bullosa
Topical Gentamicin Nonsense Suppression Therapy of EB
The overall purpose of this study is to address whether topical gentamicin therapy is an effective and feasible treatment. Specifically, we will investigate the effect of non-intensive treatment (once daily or every other day) on…
- Trial name
- GENTELBULL (NCT04644627)
- Testing
- Gentamicin Sulfate
- Where
- Norway
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Oslo University Hospital
Safety Issues, Efficacy, Self
TQB3525 for Advanced Bone Sarcomas With PI3KA Mutations or PTEN Loss
The PI3K, protein kinase B (AKT), and mTOR signaling network promotes cell growth, survival, metabolism, and motility, but becomes a critical oncogenic driver under aberrant conditions that control the tumor microenvironment and…
- Trial name
- TQBSP (NCT04690725)
- Testing
- TQB3525
- Where
- China
- Volunteers
- 29 people
- Sponsor
- Peking University People's Hospital
Ataxia Telangiectasia, ATM Gene Mutation
Effects of Vitamin B3 in Patients With Ataxia Telangiectasia
This clinical trial investigates the effects of nicotinamide riboside (vitamin B3) on the disease course of patients with ataxia telangiectasia.
- Trial name
- NCT03962114
- Testing
- Vitamin B3
- Where
- Netherlands
- Volunteers
- 24 people
- Sponsor
- Radboud University Medical Center
Leber Hereditary Optic Neuropathy
A Single Intravitreal Injection of rAAV2-ND4 for the Treatment of Leber's Hereditary Optic Neuropathy
This study is meant to evaluate the safety and efficacy of rAAV2-ND4 treatment for Leber hereditary optic neuropathy with the G11778A mutation in mitochondrial DNA.
- Trial name
- NCT03153293
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 159 people
- Sponsor
- Huazhong University of Science and Technology
Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia
Natural History Study of Patients with HPDL Mutations
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
- Conditions
- Mitochondrial Encephalomyopathies, Hereditary Spastic Paraplegia, Spastic Paraplegia, White Matter Disease
- Trial name
- NCT05848271
- Testing
- Patient Registry, Dry blood spots sampling
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of California, San Diego
Muscular Disorders, Atrophic, Muscular Diseases
Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping
The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping.
- Conditions
- Muscular Disorders, Atrophic, Muscular Diseases, Musculoskeletal Diseases, Neuromuscular Diseases
- Trial name
- NCT07250737
- Testing
- delpacibart zotadirsen
- Where
- 22 sites in United States
- Sponsor
- Avidity Biosciences, Inc.
Influenza, Human
A Pilot Study of Influenza Viruses Isolated From Immunocompromised Children and Adolescents
The purpose of the proposed study is to gather critical information that may be useful in designing effective prevention and treatment strategies for control of seasonal influenza and an influenza pandemic.
- Trial name
- NCT02352389
- Testing
- Blood sample, Nasal swab, Oropharyngeal swab
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- St. Jude Children's Research Hospital
Cystic Fibrosis
Study of Ataluren (PTC124) in Cystic Fibrosis
The primary objective of this study is to determine the long-term safety and tolerability of ataluren in participants with nonsense mutation cystic fibrosis (nmCF) who completed participation in the double-blind study…
- Trial name
- NCT02107859
- Testing
- Ataluren
- Where
- 17 sites in United States, Belgium and 5 more
- Volunteers
- 61 people
- Sponsor
- PTC Therapeutics
Cystic Fibrosis
A Study to Evaluate ELX/TEZ/IVA on Cough and Physical Activity in Participants With Cystic Fibrosis (CF)
This study will evaluate the effects of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) on cough and physical activity using wearable technology in CF participants.
- Trial name
- NCT04969224
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 19 sites in Australia, Belgium and 2 more
- Volunteers
- 82 people
- Sponsor
- Vertex Pharmaceuticals Incorporated