Clinical trials: Mutation
Low Grade Astrocytoma, Low Grade Glioma
A Study of the Drugs Selumetinib vs. Carboplatin and Vincristine in Patients With Low-Grade Glioma
This phase III trial compares the effect of selumetinib versus the standard of care treatment with carboplatin and vincristine (CV) in treating patients with newly diagnosed or previously untreated low-grade glioma (LGG) that…
- Conditions
- Low Grade Astrocytoma, Low Grade Glioma, Metastatic Low Grade Astrocytoma, Metastatic Low Grade Glioma
- Trial name
- NCT04166409
- Testing
- Biospecimen Collection, Carboplatin, Echocardiography Test
- Where
- 132 sites in United States, Canada and 1 more
- Volunteers
- 170 people
- Sponsor
- National Cancer Institute (NCI)
Gaucher Disease, Type 2
Phase 1/2 Clinical Trial of PR001 in Infants With Type 2 Gaucher Disease (PROVIDE)
J3Z-MC-OJAB is an open-label, Phase 1/2, multicenter study to evaluate the safety and efficacy of single-dose LY3884961 (formerly PR001) in infants diagnosed with Type 2 Gaucher disease (GD2).
- Trial name
- NCT04411654
- Testing
- LY3884961, Methylprednisolone, Sirolimus
- Where
- 6 sites in United States, United Kingdom
- Volunteers
- 7 people
- Sponsor
- Prevail Therapeutics
DFNA9
Systematic Review of Phenotypical Characteristics of P51S COCH Mutation
Gene mutations account for more than 60% of congenital sensorineural hearing loss (SNHL) in Western Countries. Hereditary SNHL does not necessarily start at birth, however, as many causative gene mutations only begin to express…
- Trial name
- NCT03707756
- Sponsor
- Jessa Hospital
Benign Breast Disease, Breast Cancer
Prolactin Receptor and Breast Diseases
Prolactin is known to play an important role in breast development and differentiation. Thus proliferative breast diseases are good models to unravel PRl / PRLR function in proliferative processes.
- Trial name
- Prolacsein (NCT00842465)
- Testing
- blood collection for hormonal status analysis, breast Biopsy or surgery, blood collection
- Where
- France
- Volunteers
- 735 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Congenital Hearing Loss Secondary to Biallelic Mutations of the Otoferlin Gene (OTOF)
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
Regeneron is conducting a study of an investigational new drug called DB-OTO. DB-OTO is a gene therapy that is being developed to treat pediatric and adult participants who have severe-to profound and profound hearing loss due to…
- Trial name
- CHORD (NCT05788536)
- Testing
- DB-OTO
- Where
- 17 sites in United States, Germany and 3 more
- Volunteers
- 36 people
- Sponsor
- Regeneron Pharmaceuticals
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
Retinitis Pigmentosa, Leber Congenital Amaurosis
Study to Assess the Safety and Efficacy of OCU400 for Retinitis Pigmentosa and Leber Congenital Amaurosis
This is a Phase 1/2 Study to Assess the Safety and Efficacy of OCU400 in patients with retinitis pigmentosa associated with NR2E3 and RHO mutations and in patients with LCA due to mutation(s) in CEP290 gene (OCU400-101).
- Trial name
- NCT05203939
- Testing
- OCU400 Low Dose, OCU400 Med Dose, OCU400 High Dose
- Where
- 7 sites in United States
- Volunteers
- 22 people
- Sponsor
- Ocugen
Pediatric Central Nervous System Tumor, Central Nervous System Tumor
Somatic Mosaicism in Twins Discordant for Childhood Cancer
Somatic mosaicism in cancer associated genes is one potential explanation for discordance in childhood cancer that has not been fully explored to date.
- Conditions
- Pediatric Central Nervous System Tumor, Central Nervous System Tumor, Discordant Twin, Somatic Mutation
- Trial name
- NCT06054295
- Testing
- Biospecimen collection, Questionnaire Administration
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Children's Oncology Group
Helicobacter Pylori Infection, Helicobacter Pylori Associated Gastrointestinal Disease
Prevalence and Trends of Antimicrobial Resistance of Helicobacter Pylori in Korea
To assess antimicrobial resistance rates and minimal inhibitory concentrations in H. pylori isolated from patients with upper gastrointestinal disease with long-term period.
- Conditions
- Helicobacter Pylori Infection, Helicobacter Pylori Associated Gastrointestinal Disease, Helicobacter Pylori Infection, Susceptibility to, Helicobacter Pylori 23S rRNA Clarithromycin Resistance Mutation
- Trial name
- NCT05247112
- Where
- South Korea
- Volunteers
- 2,000 people
- Sponsor
- Seoul National University Bundang Hospital
Cystic Fibrosis
A Study to Confirm the Long-term Safety and Effectiveness of Kalydeco in Patients With Cystic Fibrosis Who Have an R117H-CFTR Mutation, Including Pediatric Patients
The purpose of this study is to confirm the long-term safety and effectiveness of Kalydeco® (ivacaftor) in US CF patients with the R117H-CFTR mutation <18 years of age and to describe the long-term safety and effectiveness of…
- Trial name
- NCT02722057
- Volunteers
- 368 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Idiopathic Pulmonary Arterial Hypertension, Heritable Pulmonary Arterial Hypertension
Risk and Resilience in Pulmonary Arterial Hypertension and Genetically Susceptible Individuals
Pulmonary arterial hypertension (PAH) is a severe disease with a delayed diagnosis and markedly elevated mortality. High-risk populations, such as those with known genetic defects, provide a unique opportunity to determine the…
- Conditions
- Idiopathic Pulmonary Arterial Hypertension, Heritable Pulmonary Arterial Hypertension, Unaffected Mutation Carriers: Healthy Participants With a Known BMPR2 Gene Mutation and Normal Pulmonary Pressure and RV Function on Echo, Healthy Individuals With no Cardiopulmonary Disease
- Trial name
- RARE-PAH (NCT05584722)
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Vanderbilt University Medical Center
Acute Myeloid Leukemia, Relapsed Adult AML
Ivosidenib Expanded Access Program in Relapsed/Refractory AML With an IDH1 Mutation
To provide access to ivosidenib monotherapy to patients with relapsed or refractory acute myeloid leukemia (AML) with an isocitrate dehydrogenase 1 (IDH1) mutation.
- Conditions
- Acute Myeloid Leukemia, Relapsed Adult AML, Relapsed Pediatric AML
- Trial name
- NCT03245424
- Testing
- ivosidenib (AG-120)
- Sponsor
- Agios Pharmaceuticals, Inc.
Glaucoma, Healthy
Cause of Pigment Dispersion Syndrome
The purpose of this study is to learn how pigment is released from the iris (the colored part of the eye) in patients with pigment dispersion syndrome.
- Conditions
- Glaucoma, Healthy, Pigment Dispersion Syndrome
- Trial name
- NCT00005919
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)
Duchenne Muscular Dystrophy
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren
This study is designed to generate additional data on the effect of ataluren for producing dystrophin protein in nonsense mutation nmDMD participants.
- Trial name
- NCT03796637
- Testing
- Ataluren
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- PTC Therapeutics
Pro-opiomelanocortin (POMC), Proprotein Convertase Subtilisin/Kexin Type 1 (PCSK1) and Leptin Receptor (LepR) Gene Mutations
Genetic Testing and Phenotypic Characterization of Severely Obese Pediatric and Adult Volunteers
The purpose of this screening study is to identify people who have a rare genetic cause of obesity - specifically three genetic variants (a change in the DNA structure) of the POMC, PCSK1 and LepR genes that are currently known…
- Trial name
- NCT02849977
- Where
- 58 sites in United States, Canada and 5 more
- Volunteers
- 5,966 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Cystic Fibrosis
Orkambi Treatment in 2 to 5 Year Old Children With CF
The purpose of this observational research study is to determine the effects of clinically prescribed Orkambi treatment on 2 to 5 year old children homozygous for the F508del Mutations in the Cystic fibrosis transmembrane…
- Trial name
- NCT03795363
- Testing
- Orkambi
- Where
- United States
- Volunteers
- 28 people
- Sponsor
- Children's Hospital of Philadelphia
Rare Unresectable or Metastatic BRAF V600E Mutation-positive Solid Tumors
Clinical Study To Further Evaluate The Efficacy Of Dabrafenib Plus Trametinib In Patients With Rare BRAF V600E Mutation-Positive Unresectable or Metastatic Solid Tumors
This study is a phase IV, pragmatic single-arm prospective, open label study in pediatric (1 years or older) and adult study participants with rare BRAF V600E mutation-positive unresectable or metastatic solid tumors for whom a…
- Trial name
- NCT05868629
- Testing
- Non-investigational
- Where
- 8 sites in United States
- Volunteers
- 40 people
- Sponsor
- Novartis Pharmaceuticals
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
Phosphatase and TENsin homolog (PTEN) gene germline mutations are associated with a spectrum of clinical manifestations characterized by neurocognitive deficits, intellectual disability, autism symptomatology, skin lesions…
- Trial name
- NCT02991807
- Testing
- RAD001
- Where
- 3 sites in United States
- Volunteers
- 46 people
- Sponsor
- Boston Children's Hospital
Phenylketonuria
Study of BH4, a New and Simple Treatment of Mild PKU
The main purpose is to test whether treatment with BH4-tablets can replace the protein restrictive diet in patients with mild PKU caused by a certain frequent mutation.
- Trial name
- NCT00260000
- Testing
- 5,6,7,8-tetrahydrobiopterin
- Where
- Denmark
- Volunteers
- 15 people
- Sponsor
- The Kennedy Institute-National Eye Clinic
Cystic Fibrosis
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Ivacaftor in Subjects With Cystic Fibrosis Who Are Less Than 24 Months of Age and Have an Ivacaftor-Responsive CFTR Mutation
The purpose of this study was to evaluate the safety of ivacaftor treatment, and PK of ivacaftor and metabolites in participants with cystic fibrosis (CF) who are <24 months of age at treatment initiation and have an…
- Trial name
- NCT02725567
- Testing
- IVA
- Where
- 23 sites in United States, Australia and 3 more
- Volunteers
- 57 people
- Sponsor
- Vertex Pharmaceuticals Incorporated