Clinical trials: Mutation
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
Nasal Polyp, Smoking
The Factors Associated With the Formation of Nasal polyp-a Case Control and Descriptive Study
Nasal polyp is a significant health problem with a prevalence of 4%. It is increased in patients with asthma (7-15%), Cystic fibrosis (39-56%) or aspirin intolerance (36-96%).The quality of life (QOL) is worse than in patients…
- Conditions
- Nasal Polyp, Smoking, Rhinosinusitis, Allergic Rhinitis
- Trial name
- ACAAGSONP (NCT01278719)
- Where
- India
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Karnataka Institute of Medical Sciences
Generalized Aggressive Periodontitis, Chronic Periodontitis
Evaluation of Possible Genes in Periodontal Diseases by Genetic Methods
Generalized aggressive Periodontitis (GAgP) and chronic periodontitis (CP) are inflammatory diseases. Little is known about molecular changes and signaling cascade of host response.
- Trial name
- NCT04026828
- Testing
- Periodontitis Group
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Kocaeli University
Neurological Diseases
Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases
In Israel, because of special qualification in neurogenetics, during a 30 year career ,we have found, characterized and treated at least 13 novel neurological diseases.
- Trial name
- NGS (NCT02340871)
- Testing
- Genetic testing
- Where
- Israel
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Rabin Medical Center
HER2 Gene Mutation, Adenocarcinoma Lung Stage IV
Poziotinib in Stage IV Lung Adenocarcinoma With HER2 Mutation (KASTT001)
In this trial, treatment efficacy and safety of Poziotinib will be assessed in patients with stage IV lung adenocarcinoma harboring HER2 mutation.
- Trial name
- NCT02979821
- Testing
- Poziotinib
- Where
- South Korea
- Volunteers
- 6 people
- Sponsor
- Korean Association for the Study of Targeted Therapy
Hemophilia A
Study Evaluating ReFacto in Hemophilia A
To identify the causative mutations in previously untreated patients with hemophilia A enrolled in the ReFacto® clinical safety and efficacy study CTN 93-R833-0XX/C9741-28, using two established hemophilia mutation testing…
- Trial name
- NCT00038909
- Testing
- BDDrFVII
- Volunteers
- 103 people
- Sponsor
- Wyeth is now a wholly owned subsidiary of Pfizer
Acute Lymphoblastic Leukemia ALL, Chronic Lymphocytic Leukemia (CLL)
Role of SF3B1 Mutation in Assessment of Acute and Chronic Lymphatic Leukemia
aim of the work 1. To evaluate the presence of SF3B1-K700E mutation in acute lymphoblastic leukemia and chronic lymphocytic leukemia. 2.
- Trial name
- NCT07113132
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Safaa Ali
Medium-chain Acyl-CoA Dehydrogenase Deficiency
Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
This is a medical research study to test a medication in patients 10 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 A>G (K304E) mutation.
- Trial name
- NCT06069375
- Testing
- Sodium phenylbutyrate
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Jerry Vockley, MD, PhD
Fabry Disease, Cardiac Variant
Natural History in Fabry Patients With IVS4+919G>A Mutation
Fabry disease is caused by the deficiency or absence of alpha-galactosidase A (α-Gal A) activity, leading to progressive deposition of glycosphingolipids, mainly globotriaosylceramide (Gb3), in the lysosomes of multiple tissues…
- Trial name
- NCT03222336
- Testing
- Family pedigree and data collection
- Volunteers
- 80 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
brca1 Mutation Carrier, brca2 Mutation Carrier
Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast Cancer
RATIONALE: Drugs used in chemotherapy, such as carboplatin and docetaxel, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing.
- Conditions
- brca1 Mutation Carrier, brca2 Mutation Carrier, Breast Cancer, Hereditary Breast/Ovarian Cancer (brca1, brca2)
- Trial name
- NCT00321633
- Testing
- carboplatin, docetaxel
- Where
- 25 sites in Australia, Israel and 4 more
- Volunteers
- 148 people
- Sponsor
- University College London Hospitals
Partial Hearing Loss
Genetic Analysis of Human Hereditary Hearing Impairment
This studied is designed to discover the genes that cause hearing impairment. More precisely, this study aims to map and clone genes that are important for the development and maintenance of the anatomy and physiology related to…
- Trial name
- NCT00001606
- Where
- United States
- Volunteers
- 404 people
- Sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
Retinitis Pigmentosa, Eye Diseases
Natural History Study of Patients With EYS-Associated RP
This natural history study of patients with EYS mutations from Russia and former CIS (Commonwealth of Independent States) territories will accelerate the development of outcome measures for clinical trials.
- Trial name
- RUS_EYS (NCT07228793)
- Testing
- Whole exome/genome sequencing
- Where
- Russia
- Volunteers
- 45 people
- Sponsor
- Sensor Technology for Deafblind
Leber Congenital Amaurosis (LCA), Retinitis Pigmentosa (RP)
Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRAT
To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.
- Trial name
- NCT02575430
- Testing
- No treatment: retrospective chart review
- Where
- 9 sites in United States, Canada and 5 more
- Volunteers
- 59 people
- Sponsor
- QLT Inc.
Myelodysplastic Syndrome
Prognostic Molecular Markers in Patients With Myelodysplastic Syndrome
In the era of hypomethylating agent in MDS treatment, the investigators aimed to investigate the prognostic impact of mutations in spliceosome machinery genes (SRSF2, U2AF1, and ZRSR2) on the outcomes of 1st line decitabine…
- Trial name
- NCT02060409
- Testing
- spliceosome
- Where
- South Korea
- Volunteers
- 58 people
- Sponsor
- Samsung Medical Center
Autosomal Dominant Hypocalcemia
ADH1 and ADH2 Disease Monitoring Study (DMS)
A global, multi-center, Disease Monitoring Study (DMS) in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1) or Autosomal Dominant Hypocalcemia Type 2 (ADH2) designed to characterize ADH1 and ADH2 disease…
- Trial name
- CLARIFY (NCT05227287)
- Where
- 27 sites in United States, Australia and 11 more
- Volunteers
- 95 people
- Sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio company
Pro-opiomelanocortin (POMC) Deficiency Obesity
Setmelanotide for the Treatment of Early-Onset Pro-Opiomelanocortin (POMC) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with pro-opiomelanocortin (POMC) deficiency or proprotein convertase subtilisin/kexin type…
- Trial name
- NCT02896192
- Testing
- Setmelanotide
- Where
- 7 sites in United States, Belgium and 5 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Cystic Fibrosis
PTC Study to Evaluate Ataluren in Combination With Ivacaftor
The purpose of this study is to explore the combination of ataluren and ivacaftor as a treatment for patients with nonsense mutation cystic fibrosis
- Trial name
- NCT03256968
- Testing
- Ataluren
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- University of Alabama at Birmingham
Cystic Fibrosis (CF)
: TRANSITION: An Observational Study of Transition From Lumacaftor/Ivacaftor to Tezacaftor/Ivacaftor (Tez/Iva)
This study is a single center study of clinical and laboratory outcomes in patients ≥ 12 who transition from use of Orkambi to tez/iva.
- Trial name
- NCT03445793
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Jewish Health
Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma
Vemurafenib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With BRAF V600 Mutations (A Pediatric MATCH Treatment Trial)
This phase II Pediatric MATCH trial studies how well vemurafenib works in treating patients with solid tumors, non-Hodgkin lymphoma, or histiocytic disorders with BRAF V600 mutations that have spread to other places in the body…
- Conditions
- Advanced Malignant Solid Neoplasm, Ann Arbor Stage III Childhood Non-Hodgkin Lymphoma, Ann Arbor Stage IV Childhood Non-Hodgkin Lymphoma, Ependymoma
- Trial name
- NCT03220035
- Testing
- Laboratory Biomarker Analysis, Vemurafenib
- Where
- 116 sites in United States, Puerto Rico
- Volunteers
- 4 people
- Sponsor
- National Cancer Institute (NCI)
Inherited Retinal Degeneration Associated With RPGR Mutations, Inherited Retinal Degeneration Associated With Biallelic RPE65 Mutations
Monitoring and Early Detection of Treatable Inherited RETinal Disease in Children and Adolescents
The goals of this observational study are to develop and train artificial intelligence (AI) algorithms using multimodal imaging to identify patients with inherited retinal degeneration (IRD) caused by Retinal Pigment Epithelium…
- Trial name
- MEDIRET (NCT07901907)
- Where
- 3 sites in United States, Germany and 1 more
- Volunteers
- 4,887 people, healthy volunteers welcome
- Sponsor
- University College, London