Clinical trials: Mutations
Sensorineural Hearing Loss, Enlarged Vestibular Aqueduct
Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA
To explore the genotype-phenotype correlation of SLC26A4 mutations in cochlear-implanted patients with enlarged vestibular aqueduct.
- Trial name
- NCT04934605
- Testing
- Cochlear implantation
- Volunteers
- 60 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Beta-Thalassemia
The Prevelence of HBB c.93-21 G-A in β Thalassemia Patients
To design an amplification-refractory mutation system (ARMS) for the DNA diagnosis of the IVS I-110 (G>A) [HBB:c.93-21G˃A] mutation. To detect the prevelence of the mutation among Assiut University Hospital patients.
- Trial name
- NCT05133388
- Testing
- ARMS PCR
- Where
- Egypt
- Volunteers
- 150 people
- Sponsor
- Assiut University
Artemis (DCLRE1C ) Deficient Severe Combined Immunodeficiency
Safety and Efficacy Study of Transplantation of Autologous CD34+ Cells Transduced With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA in Artemis (DCLRE1C) Deficient Severe Combined Immunodeficiency Patients (ARTEGENE)
The purpose of this study is to evaluate the Safety and Efficacy of Gene Therapy of the severe combined immunodeficiency (SCID) caused by mutations in the human DCLRE1C gene (Artemis) by transplantation of a single dose of…
- Trial name
- ARTEGENE (NCT05071222)
- Testing
- ARTEGENE drug product
- Where
- France
- Volunteers
- 7 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
RAS Mutation, Neurofibromatosis 1
RASopathy Biorepository
The RASopathies are a group of developmental disorders caused by genetic changes in the genes that compose the Ras/mitogen activated protein kinase (MAPK) pathway. New RASopathies are being diagnosed frequently.
- Conditions
- RAS Mutation, Neurofibromatosis 1, Noonan Syndrome, Noonan Syndrome With Multiple Lentigines
- Trial name
- NCT04395495
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 6 to 11 Years With the G551D Mutation
The purpose of this study was to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis aged 6 to 11 years who have the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR)…
- Trial name
- ENVISION (NCT00909727)
- Testing
- Ivacaftor
- Where
- 29 sites in United States, Australia and 5 more
- Volunteers
- 52 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Genetic Diseases
Mutation Exploration in Non-acquired, Genetic Disorders and Its Impact on Health Economy and Life Quality
The MENDEL-study will investigate whether the use of gene panel or whole genome sequencing (WGS) will: 1. improve the rate of diagnosis and through this compare the performance of the two diagnostic approaches (gene panel vs.
- Trial name
- MENDEL (NCT02380729)
- Testing
- Gene Panel Sequencing, Whole Genome Sequencing (WGS)
- Where
- 3 sites in Germany
- Volunteers
- 200 people
- Sponsor
- Charite University, Berlin, Germany
Papillary Thyroid Carcinoma
BRAF V600E Mutations In Papillary Thyroid Carcinoma
The purpose of this study is to determine whether BRAF V600E mutation in our patients with papillary thyroid cancer has an association with poor prognosis.
- Trial name
- NCT01417442
- Testing
- BRAF V600E POSITIVITY
- Where
- Turkey (Türkiye)
- Volunteers
- 150 people
- Sponsor
- Bezmialem Vakif University
Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome
Li-Fraumeni Syndrome/TP53 Biobank
Li-Fraumeni Syndrome (LFS) and Li-Fraumeni-like (LFL) Syndrome are cancer predisposition syndromes due to germline aberrations in the TP53 gene.
- Trial name
- NCT04367246
- Testing
- No Intervention
- Where
- 2 sites in United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Insulin Resistance, Diabetes Mellitus
Thyroid Hormone to Induce Non-Insulin Mediated Glucose Disposal in People With Insulin Receptor Mutations
Background: Insulin receptor mutation causes high blood sugars and sometimes diabetes complications. Researchers want to see if thyroid hormone helps.
- Conditions
- Insulin Resistance, Diabetes Mellitus, Abnormal Glucose Metabolism
- Trial name
- NCT02457897
- Testing
- Liothyronine
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Refractory Cancer, CNS Tumors
A Study of Avutometinib for People With Solid Tumor Cancers
The purpose of this study is to find out whether avutometinib is a safe treatment for advanced or recurrent solid tumor cancers in children and young adults.
- Conditions
- Refractory Cancer, CNS Tumors, CNS Tumor, Adult, CNS Tumor, Childhood
- Trial name
- NCT06104488
- Testing
- Avutometinib
- Where
- 2 sites in United States
- Volunteers
- 3 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Solid Tumor
QUILT-3.036: AMG 337 in Subjects With Advanced or Metastatic Solid Tumors
This is a phase 2 study of AMG 337 in subjects with advanced or metastatic solid tumors that overexpress MET or harbor METex14del mutations resulting in MET exon 14 skipping.
- Trial name
- NCT03147976
- Testing
- AMG 337
- Where
- United States
- Sponsor
- NantPharma, LLC
Best Vitelliform Macular Dystrophy, Retinitis Pigmentosa
Study of BEST1 Vitelliform Macular Dystrophy
The purpose of this study is to establish the natural history of of participants with BESTROPHIN 1 Vitelliform Macular Dystrophy.
- Trial name
- NCT05809635
- Testing
- Natural History Study
- Where
- 3 sites in United States, France and 1 more
- Volunteers
- 52 people
- Sponsor
- Columbia University
Unresectable or Metastatic Melanoma or Advanced Solid Tumors, Melanoma
A Study of APG-115 in as a Monotherapy or Combination With Pembrolizumab in Patients With Metastatic Melanomas or Advanced Solid Tumors
This study aims to assess the safety, tolerability, pharmacokinetics, and preliminary efficacy of APG-115, an MDM2 inhibitor, either alone or in combination with pembrolizumab, a programmed cell death protein-1 (PD-1) inhibitor…
- Conditions
- Unresectable or Metastatic Melanoma or Advanced Solid Tumors, Melanoma, Uveal Melanoma, P53 Mutation
- Trial name
- NCT03611868
- Testing
- Phase 1b: APG-115+pembrolizumab
- Where
- 21 sites in United States, Australia
- Volunteers
- 230 people
- Sponsor
- Ascentage Pharma Group Inc.
Systemic Lupus Erythematosus (SLE)
GENetic & Immunologic Abnomalies in Systemic Lupus Erythematosus
Systemic Lupus Erythematosus (SLE) is a chronic autoimmune disease for which the aetiology includes genet-ic and environmental factors. It is rare in children as compared to adults.
- Trial name
- GENIAL (NCT01992666)
- Testing
- Blood sampling
- Where
- 26 sites in France
- Volunteers
- 271 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Detection and Genotyping of Factor V and Factor II Point Mutations
Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA
As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites.
- Trial name
- NCT00959504
- Volunteers
- 275 people, healthy volunteers welcome
- Sponsor
- Illumina, Inc.
GATA2, Immunodeficiency
Allogeneic Hematopoietic Stem Cell Transplant for GATA2 Mutations
Background: GATA2 deficiency is a disease caused by mutations in the GATA2 gene. It can cause different types of leukemia and other diseases. Researchers want to see if a stem cell transplant can be used to treat this condition.
- Conditions
- GATA2, Immunodeficiency, MDS
- Trial name
- NCT01861106
- Testing
- Allogeneic HSCT, Busulfan Test dose, Fludarabine (Fludara, Berlex Laboratories)
- Where
- United States
- Volunteers
- 144 people
- Sponsor
- National Cancer Institute (NCI)
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
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
Chronic Pancreatitis, Genetic Mutation
An Observational Study on the Natural Course of Chronic Pancreatitis
To explore the impact on genetic and environmental factors for clinical manifestation, and the progression of chronic pancreatitis, including development of pancreatic insufficiency and other complications.
- Conditions
- Chronic Pancreatitis, Genetic Mutation, Smoking, Tobacco, Drinking, Alcohol
- Trial name
- NCT04574297
- Testing
- smoking and alcohol assumption, genetic sequencing
- Volunteers
- 798 people
- Sponsor
- Changhai Hospital
X-Linked Retinitis Pigmentosa
Safety and Efficacy of rAAV2tYF-GRK1-RPGR in Subjects With X-linked Retinitis Pigmentosa Caused by RPGR Mutations
This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector (rAAV2tYF-GRK1-RPGR) in patients with X-linked retinitis pigmentosa caused by RPGR mutations.
- Trial name
- HORIZON (NCT03316560)
- Testing
- rAAV2tYF-GRK1-RPGR
- Where
- 4 sites in United States
- Volunteers
- 29 people
- Sponsor
- Beacon Therapeutics