Clinical trials: Genetic Mutation
Duchenne Muscular Dystrophy
Phase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function.
- Trial name
- NCT00759876
- Testing
- Ataluren
- Where
- 3 sites in United States
- Volunteers
- 36 people
- Sponsor
- PTC Therapeutics
Congenital Disorders
Infant Medical Records: Case Report Proposal
Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS.
- Trial name
- NCT00268060
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Children's Healthcare of Atlanta
Becker Muscular Dystrophy, Duchenne Muscular Dystrophy
Gentamicin Treatment of Muscular Dystrophy
This study will evaluate the antibiotic gentamicin for treating patients with muscular dystrophy caused by a specific genetic abnormality known as a nonsense mutation.
- Trial name
- NCT00005574
- Testing
- Gentamicin
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood
A Prospective Multicenters Clinical Cohort Study of Stratified Treatment of Chinese Children With LBL
With the development of molecular biology and precise medical treatment, new challenges have been raised in the diagnosis and treatment of non-Hodgkin lymphoma (NHL) in children.
- Conditions
- Lymphoma, Non-Hodgkin, Lymphoblastic Lymphoma, Childhood, PTEN Loss, NOTCH1 Gene Mutation
- Trial name
- NCT03971318
- Where
- China
- Volunteers
- 300 people
- Sponsor
- Sun Yat-sen University
Carcinoid Neuroendocrine Cancer
Study Investigating MEN1 and SDHD in Familial Carcinoid Tumors
There is a high incidence among the first degree relatives of the carcinoid patients, indicating the involvement of genetic components in its initiation and pathogenesis.
- Trial name
- NCT00672269
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Rutgers University
Grade 2 Astrocytoma or Oligodendroglioma With an IDH1 or IDH2 Mutation
Vorasidenib Study in Pediatric Participants With Grade 2 Astrocytoma or Oligodendroglioma With an IDH1 or IDH2 Mutation
The objective of this study is to evaluate the safety, tolerability, efficacy profile, and effect on growth and development of vorasidenib in pediatric participants aged 12 to < 18 years old with grade 2 glioma with an IDH1 or…
- Trial name
- NCT07286292
- Testing
- Vorasidenib
- Where
- 5 sites in United States, Australia
- Volunteers
- 10 people
- Sponsor
- Institut de Recherches Internationales Servier (I.R.I.S.)
Myotubular Myopathy
Myotubular Myopathy Genetic Testing Study
Myotubular myopathy (XLMTM) is an X-linked disorder caused by mutations in the myotubularin gene (MTM1). The clinical spectrum is variable and ranges from individuals who require a wheelchair and full time breathing support to…
- Trial name
- NCT01817946
- Testing
- Genetic Testing
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Cure CMD
Congenital Muscular Dystrophy Due to Lamin A/C Mutation
HBCMD01- Expanded Access for the Treatment of Congenital Muscular Dystrophy.
This individual patient expanded access IND is requested for a patient diagnosed with LMNA-related congenital muscular dystrophy (L-CMD).
- Trial name
- NCT05154851
- Testing
- HB-adMSCs
- Where
- United States
- Sponsor
- Hope Biosciences Research Foundation
CTNNB1 Gene Mutation
Genotype-phenotype Correlations in Children and Adults With CTNNB1 Mutation
The aim of this study is to explore and define the correlations between genotype and phenotype in patients with CTNNB1 mutations as well as monitor and survey the natural history of the CTNNB1 syndrome.
- Trial name
- Gen-Phe CTNNB1 (NCT04812119)
- Testing
- The Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F), The Autism Spectrum Quotient-Children's Version (AQ-Child), The Autism-Spectrum Quotient (AQ)-Adolescent Version (AQ-Adolescent)
- Where
- 3 sites in Australia, Slovenia
- Volunteers
- 100 people
- Sponsor
- University Medical Centre Ljubljana
Cystic Fibrosis, Advanced Lung Disease
Study to Evaluate Lumacaftor and Ivacaftor Combination Therapy in Subjects 12 Years and Older With Advanced Lung Disease
The purpose of this study is to evaluate the safety and tolerability of LUM/IVA combination therapy in subjects 12 years and older with CF and advanced lung disease and who are homozygous for the F508del CFTR mutation
- Trial name
- NCT02390219
- Testing
- Lumacaftor, Ivacaftor
- Where
- 6 sites in United States
- Volunteers
- 46 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
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
HIV Infections
A Study of 1592U89 in Combination With Protease Inhibitors in HIV-Infected Patients Who Have Never Taken Anti-HIV Drugs
The purpose of this study is to see if it is safe and effective to give 1592U89 plus certain protease inhibitors (PIs) to HIV-infected patients who never have been treated with anti-HIV drugs.
- Trial name
- NCT00002440
- Testing
- Indinavir sulfate, Ritonavir, Abacavir sulfate
- Where
- 8 sites in United States
- Volunteers
- 80 people
- Sponsor
- Glaxo Wellcome
Bladder Cancer
Cost-Effectiveness in Bladder Cancer
This randomized clinical multicentre trial aims to evaluate the efficacy of microsatellite analysis on voided urine to detect tumour recurrences in the follow-up of patients with superficial urothelialcell carcinoma (UCC).
- Trial name
- NCT00126958
- Testing
- urinary analysis
- Volunteers
- 500 people
- Sponsor
- Erasmus Medical Center
Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Acute Lymphoblastic Leukemia
Ex Vivo Drug Sensitivity Testing and Mutation Profiling
This study is a prospective, non-randomized feasibility study. Freshly isolated tumor cells from patients will be screened using state-of-the-art viability assay designed for ex vivo high-throughput drug sensitivity testing…
- Conditions
- Recurrent Childhood Acute Myeloid Leukemia, Recurrent Childhood Acute Lymphoblastic Leukemia, Recurrent Childhood Large Cell Lymphoma, Refractory Childhood Acute Lymphoblastic Leukemia
- Trial name
- NCT03860376
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Florida International University
Family Study HbA2 Leuven Mutation.
HbA2 Leuven and Its Impact on HbA1c Results
The study is designed to demonstrate HbA2 Leuven mutation and to asssess its impact on routine HbA1c measurements.
- Trial name
- HbA2 Leuven (NCT01909648)
- Testing
- Blood withdrawal
- Where
- Belgium
- Volunteers
- 10 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
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
Genetic Screening, Adolescent
Engaging Adolescents in Decisions About Return of Genomic Research Results
Recent recommendations to return children's results for adult-onset conditions to parents anytime whole exome or genome sequencing is performed, as well as growing expectations to return research results to participants on a…
- Conditions
- Genetic Screening, Adolescent, Genetic Change, Shared Decision Making
- Trial name
- NCT04481061
- Testing
- Electronic Decision Tool
- Where
- 2 sites in United States
- Volunteers
- 787 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Metastatic Colorectal Cancer
A Study of Encorafenib Plus Cetuximab Taken Together With Pembrolizumab Compared to Pembrolizumab Alone in People With Previously Untreated Metastatic Colorectal Cancer
The purpose of this study is to learn about the effects of three study medicines (encorafenib, cetuximab, and pembrolizumab) given together for the treatment of colorectal cancer that: is metastatic (spread to other parts of the…
- Trial name
- SEAMARK (NCT05217446)
- Testing
- Encorafenib, Cetuximab, Pembrolizumab
- Where
- 59 sites in United States, Australia and 13 more
- Volunteers
- 108 people
- Sponsor
- Pfizer
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