Clinical trials: Mutations
WHIM Syndrome
A Retrospective and Prospective Natural History Study of Patients With WHIM Syndrome
This natural history study is a prospective and retrospective, observational study of WHIM patients. WHIM syndrome is a rare, genetic, primary immunodeficiency disorder (a disorder in which the body's immune system does not…
- Trial name
- NCT03087370
- Testing
- No intervention
- Sponsor
- X4 Pharmaceuticals
Cystic Fibrosis
A Study of VX-121 Combination Therapy in Participants With Cystic Fibrosis (CF) Who Are Homozygous for F508del, Heterozygous for F508del and a Gating (F/G) or Residual Function (F/RF) Mutation, or Have At Least 1 Other Triple Combination Responsive (TCR) CFTR Mutation and No F508del Mutation
The purpose of this study is to evaluate the efficacy and safety of VX-121/tezacaftor/deutivacaftor (VX-121/TEZ/D-IVA) in CF participants who are homozygous for F508del, heterozygous for F508del and a gating (F/G) or residual…
- Trial name
- NCT05076149
- Testing
- VX-121/TEZ/D-IVA, ELX/TEZ/IVA, IVA
- Where
- 170 sites in United States, Australia and 18 more
- Volunteers
- 597 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Leber Hereditary Optic Neuropathy
Safety and Efficacy Study of rAAV2-ND4 Treatment of Leber Hereditary Optic Neuropathy (LHON)
This study is meant to assess the safety and efficacy of rAAV2-ND4 treatment of Leber hereditary optic neuropathy with 11778 LHON mutation.
- Trial name
- rAAV2-ND4 (NCT01267422)
- Testing
- rAAV2-ND4
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Bin Li
Inherited Retinal Diseases
Safety and Efficacy Study of PUMCH-E101 Injection in Subjects with RDH12 Retinopathy
The goal of this clinical trial is to evaluate the safety and efficacy of PUMCH-E101 injection in subjects with RDH12 retinopathy.
- Trial name
- NCT06749639
- Testing
- PUMCH-E101 Injection（Low dose）, PUMCH-E101 Injection（High dose）
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Peking Union Medical College Hospital
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
Adrenoleukodystrophy
Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children
Study the clinical manifestations and gene mutation of Taiwanese ALD patients
- Trial name
- NCT00278044
- Testing
- blood sampling and medical records
- Where
- Taiwan
- Volunteers
- 20 people
- Sponsor
- Far Eastern Memorial Hospital
Melanoma, Adjuvant
Compassionate Use Program BRAF Mutation-positive Patients in the Adjuvant Treatment of Melanoma After Surgical Resection
The purpose of this Treatment Plan is to allow access to trametinib and dabrafenib for eligible high-risk BRAF mutation-positive patients in the adjuvant treatment of melanoma after surgical resection.
- Trial name
- NCT04544202
- Testing
- Dabrafenib and Trametinib, Dabrafenib, Trametinib
- Sponsor
- Novartis Pharmaceuticals
NSCLC Stage IV
T790M Mutation Testing in Blood by Different Methodologies
Three laboratories will participate in the study. Each laboratory will analyze the same samples by different methodologies according to the flow indicated in figure 1.
- Trial name
- NCT03363139
- Testing
- Tirosin Kinase Inhibitors
- Where
- 30 sites in Spain
- Volunteers
- 72 people
- Sponsor
- Spanish Lung Cancer Group
Hypereosinophilic Syndrome, Systemic Mastocytosis
Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes
This trial is for various types of malignancies which may depend on certain enzymes (tyrosine kinases) for growth. The objective of this study is to assess to what extent imatinib mesylate blocks these enzymes and to assess the…
- Conditions
- Hypereosinophilic Syndrome, Systemic Mastocytosis, Chronic Myelomonocytic Leukemia, Dermatofibrosarcoma
- Trial name
- NCT00171912
- Testing
- imatinib mesylate
- Where
- Australia
- Volunteers
- 38 people
- Sponsor
- Novartis Pharmaceuticals
Brain and Central Nervous System Tumors, Hereditary Wilms Tumor
Gene Mutation in Samples From Young Patients With Pleuropulmonary Blastoma Syndrome at Risk for Developing Cancer
RATIONALE: The identification of gene mutations in young patients with pleuropulmonary blastoma syndrome may allow doctors to better understand the genetic processes involved in the development of some types of cancer, and may…
- Conditions
- Brain and Central Nervous System Tumors, Hereditary Wilms Tumor, Kidney Cancer, Liver Cancer
- Trial name
- NCT01353300
- Testing
- DNA analysis, cytogenetic analysis, gene expression analysis
- Volunteers
- 31 people
- Sponsor
- Children's Oncology Group
Single Gene Disorders
Clinical Use of Parental Support To Detect Single Gene Mutations
Gene Security Network has developed a novel technology called Parental Support (PS) which is used for Preimplantation Genetic Screening/Diagnosis (PGS/D) during in vitro fertilization (IVF).
- Trial name
- NCT01197872
- Testing
- Preimplantation Genetic Diagnosis
- Where
- United States
- Volunteers
- 240 people
- Sponsor
- Natera, Inc.
MELAS Syndrome, Noninsulin-dependent Diabetes Mellitus With Deafness
Mitochondrial nt3243 A>G Mutation in Taiwan
Mitochondrial diseases are multisystem disorders that present with a wide range of clinical manifestations. Mitochondrial DNA nt3243A>G mutation is one of the most common mutations seen in mitochondrial diseases.
- Trial name
- NCT02114554
- Where
- Taiwan
- Volunteers
- 40 people
- Sponsor
- National Taiwan University Hospital
Hypercalciuria, Urolithiasis
Stone Disease in Children and Their Families
The hypothesis of this study proposal is that pediatric urinary stone formers have genetic risk factors which predispose their urinary stone production.
- Trial name
- NCT00765531
- Volunteers
- 15 people
- Sponsor
- University of Texas Southwestern Medical Center
Advanced Gastric Adenocarcinoma
Study of AZD1775 in Combination With Paclitaxel, in Advanced Gastric Adenocarcinoma Patients Harboring TP53 Mutation as a Second-line Chemotherapy
This study is a single arm, single center phase II study of AZD1775 in combination with paclitaxel in patients with advanced gastric adenocarcinoma harboring TP53 mutation as a second-line chemotherapy.
- Trial name
- NCT02448329
- Testing
- AZD1775, paclitaxel
- Where
- South Korea
- Volunteers
- 26 people
- Sponsor
- Samsung Medical Center
ALL, Childhood
Detection of IKZF1 Deletion Mutation in Patients With Acute Lymphoblastic Leukemia and Its Impact in Therapy
1. To detect IKZF-1 deletion mutations in patients with ALL. 2. To study the impact of IKZF-1 deletion mutation on therapy of ALL. 3. To study the correlation between IKZF-1 deletion mutations and BCR-ABL.
- Trial name
- NCT03889951
- Volunteers
- 50 people
- Sponsor
- Assiut University
Dentatorubral-Pallidoluysian Atrophy
Personalized Antisense Oligonucleotide Therapy for A Single Participant With ATN1 Gene Mutation
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single participant with dentatorubral-pallidoluysian atrophy (DRPLA) due to a heterozygous pathogenic CAG trinucleotide…
- Trial name
- NCT06706388
- Testing
- nL-ATN1-002
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- n-Lorem Foundation
Baker Gordon Syndrome, Rare Neurodevelopmental Conditions
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity.
- Conditions
- Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder
- Trial name
- NCT07329257
- Testing
- No Intervention: Observational Cohort
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- University of Missouri-Columbia
AML
The Mutation Profile and Prognosis in AML With IDH1/2 Mutation
Investigators have a prospective clinical cohort including 500 adult AML patients. And investigators have stored leukemia sample from these patients. In this program investigators will do mutation profile in these patients.
- Trial name
- NCT07004816
- Testing
- Uncover mutation profiles
- Where
- China
- Volunteers
- 1,015 people
- Sponsor
- Institute of Hematology & Blood Diseases Hospital, China
Dystrophic Epidermolysis Bullosa
Study of PTW-002 in Patients With Dominant or Recessive Dystrophic Epidermolysis Bullosa Due to Mutation(s) in Exon 73 of the COL7A1 Gene
A double-blind, randomized, intra-patient placebo- controlled, multiple dose study of PTW-002 evaluating safety, proof of mechanism, preliminary efficacy, and systemic exposure in patients with Dominant Dystrophic Epidermolysis…
- Trial name
- NCT05529134
- Testing
- PTW-002 10 mg/g gel
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- Phoenicis Therapeutics
Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia
Treosulfan-Based Conditioning Regimen Before a Blood or Bone Marrow Transplant for the Treatment of Bone Marrow Failure Diseases (BMT CTN 1904)
This phase II trial tests whether treosulfan, fludarabine, and rabbit antithymocyte globulin (rATG) work when given before a blood or bone marrow transplant (conditioning regimen) to cause fewer complications for patients with…
- Conditions
- Bone Marrow Failure Syndrome, Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Hereditary Sideroblastic Anemia
- Trial name
- NCT04965597
- Testing
- Treosulfan, Fludarabine Phosphate, Tacrolimus
- Where
- 24 sites in United States
- Volunteers
- 40 people
- Sponsor
- Fred Hutchinson Cancer Center