Clinical trials: Mutation
Invasive Aspergillosis, Acute Leukemia
Diagnostic Study of Combined Biomnarker Testing in Bronchoalveolar Lavage Samples of Immunocompromised Patients
The aim of our prospective and multicentre diagnostic study is therefore to elucidate on the sensitivity and specificity rates of these serologic markers in combination with molecular tools (both an Aspergillus specific and a…
- Conditions
- Invasive Aspergillosis, Acute Leukemia, Biomarkers, Stem Cell Transplantation
- Trial name
- NCT01695512
- Where
- Germany
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Heidelberg University
Mitochondrial Disorders, Li-Fraumeni Syndrome
Role of p53 Gene in Metabolism Regulation in Patients With Li-Fraumeni Syndrome
This study will examine metabolic and biological factors in people with Li-Fraumeni syndrome, a rare hereditary disorder that greatly increases a person's susceptibility to cancer.
- Conditions
- Mitochondrial Disorders, Li-Fraumeni Syndrome, Carriers of p53 Mutation
- Trial name
- NCT00406445
- Where
- United States
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Breast Cancer Risk, Ovarian Cancer Risk
Population Based Germline Testing for Early Detection and Prevention of Cancer
PROTECT-C is a research study offering genetic testing to people to see whether they have a genetic change that increases their risk of breast, ovary, bowel, and/or womb cancer.
- Conditions
- Breast Cancer Risk, Ovarian Cancer Risk, Cancer Gene Mutation
- Trial name
- PROTECT-C (NCT07498829)
- Testing
- Genetic testing for Cancer Susceptibility Genes (CSGs) (BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2, MLH1, MSH2, MSH6) and personalised breast and ovarian cancer risk
- Where
- United Kingdom
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- Queen Mary University of London
Acute Myeloid Leukemia, Myelodysplastic Syndromes
Screening Gene Mutations in Myeloid Cancers by Next Generation Sequencing to Improve Treatment Results
Genetic mutations have closely linked to the pathogenesis and prognostication of myeloid cancers. In addition, a number of molecularly targeted agents have been developed in recent years.
- Conditions
- Acute Myeloid Leukemia, Myelodysplastic Syndromes, Myeloproliferative Neoplasm, Aplastic Anemia
- Trial name
- NCT04060485
- Where
- Taiwan
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Melanoma, BRAF V600 Mutation
Relative Bioavailability of Binimetinib 3 x 15 mg and 45 mg Formulations
The current commercially available MEKTOVI® (binimetinib) 15 mg tablets are provided as immediate release film-coated tablets for oral administration.
- Conditions
- Melanoma, BRAF V600 Mutation, Unresectable Melanoma, Metastatic Melanoma
- Trial name
- NCT05103891
- Testing
- Binimetinib Oral Tablet
- Where
- France
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Pierre Fabre Medicament
Opioid Dependence, Methadone Toxicity
KCNH2 Polymorphisms on the QTc Interval in Kelantanese Malays Patients Receiving Methadone Maintenance Therapy (MMT)
Methadone maintenance therapy (MMT) is one of the modalities to prevent HIV transmission among injected drug users, particularly in opioid-dependent users.
- Conditions
- Opioid Dependence, Methadone Toxicity, HERG Gene Mutation
- Trial name
- NCT03603158
- Where
- Malaysia
- Volunteers
- 111 people, healthy volunteers welcome
- Sponsor
- Universiti Sains Malaysia
Familial Lipomatosis, Very Rare Dermatologic Diseases
Identification of Mutations Responsible for Rare Familial Skin Diseases by Next Generation Sequencing
The primary purpose of the protocol is to use next generation sequencing to identify pathogenic variants in genes involved in very rare skin diseases.
- Trial name
- DERMA-SEQ (NCT02509650)
- Where
- 2 sites in France
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Genetic Alteration, Low Back Pain
Genetic Alterations From Physical Therapy in Low Back Pain and Disc Degeneration
Background and Scientific Rationale: This prospective randomized controlled trial examines the combined effect of physiotherapy and vitamin D supplementation on pain, disability, interleukin-6 (IL-6) expression, and vitamin D…
- Conditions
- Genetic Alteration, Low Back Pain, Physiotherapy
- Trial name
- Low back pain (NCT07439874)
- Testing
- Interferential therapy
- Where
- Saudi Arabia
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- University of Tabuk
Behçet's Disease
MEVALONATE KINASE GENE MUTATIONS AND THEIR CLINICAL CORRELATIONS IN BEHÇET'S DISEASE
Background: Genetics is suggested to play a critical role in the development of Behçet's disease (BD). Shared phenotypic features requires an approach to the differential diagnosis from periodic febrile syndromes particularly…
- Trial name
- NCT01780363
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- healthy volunteers welcome
- Sponsor
- Cukurova University
Ovarian Cancer, BRCA Mutation
Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer
The overall goal of the Polygenic Risk Scores and Multi-cancer Early Detection for Ovarian Cancer (PROMISE) study is to better understand how women may incorporate both polygenic risk score (PRS) and novel early detection…
- Trial name
- PROMISE (NCT06436248)
- Where
- United States
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Non-Small Cell Lung Cancer, KRAS Mutation-Related Tumors
Binimetinib and Hydroxychloroquine in Patients With Advanced KRAS Mutant Non-Small Cell Lung Cancer
This study will evaluate using hydroxychloroquine (HCQ) along with binimetinib as an effective method for treating cancer. All patients will receive binimetinib at a standard dose approved for other cancers.
- Trial name
- NCT04735068
- Testing
- Binimetinib Pill, Hydroxychloroquine Pill
- Where
- United States
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Parkinson Disease, Gaucher Disease
Biomarker Analysis for GBA Associated Parkinson's Disease
The primary aim of the study is to conclusively demonstrate the possibility of using the following molecules, α-Synuclein, LRRK2 and Parkin individually or in combination as biomarkers for Parkinson's disease (PD) progression in…
- Trial name
- NCT03811496
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Lysosomal and Rare Disorders Research and Treatment Center, Inc.
Neuroblastoma
A Pilot Study on ALK Gene Mutations in Neuroblastoma
Neuroblastoma (NB) originates from the sympathetic nervous system and is one of the most common cancers in infants and children.
- Trial name
- NCT01986595
- Where
- Taiwan
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
HER2-positive Breast Cancer, HER2 Low
ISPY-P1.01:Evaluating the Safety of Weekly Paclitaxel With Trastuzumab Duocarmazine (SYD985) in Patients With Metastatic Cancer
This is an open-label, single-arm, multi-site phase I/Ib trial with SYD985, an antibody-drug conjugate (ADC) targeting HER2 on the cell membrane, combined with paclitaxel.
- Conditions
- HER2-positive Breast Cancer, HER2 Low, SYD-985, SYD985
- Trial name
- NCT04602117
- Testing
- Vic-trastuzumab duocarmazine (SYD985) + paclitaxel
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- QuantumLeap Healthcare Collaborative
Hearing Impairment
Epidemiology of Non-syndromic Dominant Deafness
Hearing impairment is a common disorder that affects at least 7% of individuals in our countries. Even the causes of hearing impairment are numerous, genetic causes represent the main factor of sensorineural deafness.
- Trial name
- SURDOM (NCT01150305)
- Testing
- blood sample
- Where
- France
- Volunteers
- 183 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
MODY-2 Diabetes
The Effect of ß-cell Specific Glucokinase Mutation on Glucose Homeostasis and Insulin Secretion in a MODY-2 Family
Type 2 diabetes mellitus patients exhibit many glucose homeostasis abnormalities in different tissues and organs. Among the more important defects are disturbed hepatic glucose metabolism and defective pancreatic β-cell function.
- Trial name
- NCT01960231
- Testing
- OGTT
- Where
- Israel
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Sheba Medical Center
Heterozygous Carriers of Gitelman Syndrome
Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter
Gitelman syndrome is a salt wasting tubulopathy caused by mutations in the SLC12A3 gene coding for the thiazide sensitive sodium chloride cotransporter.
- Trial name
- HEPHYGI (NCT02035046)
- Testing
- Samplings of blood, Sampling of urine, Measure of the blood pressure
- Where
- 5 sites in France
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Prion Diseases
Therapeutic Antibodies Against Prion Diseases From PRNP Mutation Carriers
The human Prion diseases can be classified into sporadic, acquired and inherited forms. Inherited forms usually manifest in higher age so there have to be factors preventing Prion propagation in young mutation carriers.
- Trial name
- PRNP (NCT02837705)
- Testing
- blood draw
- Where
- 7 sites in United States, Austria and 5 more
- Volunteers
- 213 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Osteoporosis Pseudoglioma
Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma Syndrome
This was a pilot study of 10 patients with Osteoporosis-pseudoglioma syndrome (OPPG) from the Old Order Mennonite community and 16 controls, who did not have OPPG.
- Trial name
- NCT01108068
- Testing
- Lithium
- Where
- United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
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