Clinical trials: Genetic Mutation
Cystic Fibrosis
A DDI Study of FDL169 and FDL176 in Healthy Subjects
A DDI study to assess the safety, tolerability and pharmacokinetics of both; doses of FDL176 with and without co-administration of FDL169 and doses of FDL169 with and without co-administration of FDL176.
- Trial name
- NCT03756922
- Testing
- FDL169, FDL176
- Where
- United Kingdom
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Flatley Discovery Lab LLC
Parkinson Disease, GBA Gene Mutation
Evaluation of the Frequency and Severity of Sleep Abnormalities in Patients With Parkinson's Disease
Sleep disturbances are one of the most common non-motor symptoms in PD, with an estimated prevalence as high as 40-90%. Sleep disturbances (particularly sleep duration, sleep fragmentation, Rapid Eye Movement (REM) sleep behavior…
- Conditions
- Parkinson Disease, GBA Gene Mutation, Leucine-rich Repeat Kinase 2 (LRRK2) Gene Mutation
- Trial name
- NCT04387812
- Testing
- Xtrodes home PSG system
- Where
- Israel
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- Tel-Aviv Sourasky Medical Center
Metastatic Colorectal Cancer
FOLFOX + Panitumumab According to a "Stop and go" Strategy With a Reintroduction Loop After Progression on Fluoropyrimidine as Maintenance Treatment, as the First Line in Patients With Metastatic Colorectal Adenocarcinoma Without a RAS Mutation
Single-arm, multi-centre phase II study The primary objective is to evaluate the time to failure of the strategy.
- Trial name
- OPTIPRIME (NCT03584711)
- Testing
- FOLFOX + panitumumab
- Where
- 124 sites in France, Martinique
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Federation Francophone de Cancerologie Digestive
Pain, Genetic Change
COMT and OPRM1 Polymorphisms and Their Effect on Post-Operative Pain in Children
The goal of this observational study is to investigate whether the A118G single-nucleotide polymorphism (SNP) in the mu-opioid receptor1(OPRM1) and Catechol-O-methyltransferase (COMT) SNPs influence postoperative pain scores in…
- Conditions
- Pain, Genetic Change, Children, Only
- Trial name
- NCT06777875
- Where
- Lebanon
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- American University of Beirut Medical Center
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
RAS Mutation, Ras (Kras or Nras) Gene Mutation
Leflunomide or Combination of MEK Inhibitor and Hydroxychloroquine for Refractory Patients With RAS Mutations
There is a huge variety of nucleotide substitutions that activate RAS. The search for new "universal" drugs for the RAS pathway that either interfere with RAS upregulation upstream in the signaling pathway or offset the…
- Conditions
- RAS Mutation, Ras (Kras or Nras) Gene Mutation, Colorectal Cancer Recurrent, Pancreas Cancer
- Trial name
- NТО-RAS (NCT06229340)
- Testing
- Leflunomide, The combination of MEK inhibitor + hydroxychloroquine( plaquenil) ± bevacizumab
- Where
- Russia
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- N.N. Petrov National Medical Research Center of Oncology
Recurrence, Metastasis
Clinical Relevance of NGS Analysis for High-purity CTC From Cancer Patients With Disruptive Gene Mutation(s)
Distant metastasis of cancer remains the major cause of cancer death. One of the evidence is that some rare cells shed from primary tumor exist in the circulation of cancer patients, which has been proven to be related to cancer…
- Conditions
- Recurrence, Metastasis, Death
- Trial name
- NCT03002350
- Where
- Taiwan
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Chang Gung Memorial Hospital
Melanoma
Genetic Risk Factors and Acquired Oncogenic Mutations of Melanoma
Though it is generally accepted that exposure to sunlight is a major causative factor for skin cancer, the risk for developing melanoma is not directly linked to sun exposure such as in non-melanoma skin cancer.
- Trial name
- M3 (NCT00849407)
- Where
- Austria
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Medical University of Vienna
BRCA1 Mutation, BRCA2 Mutation
BRCA1/2 Flu Vaccine
To evaluate immune function in BRCA1/2 mutation carriers without cancer, specifically to determine whether immune function in healthy individuals with germline loss of function BRCA1/2 mutations, impacts overall immune health and…
- Trial name
- NCT04499534
- Testing
- Seasonal influenza vaccine
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Abramson Cancer Center at Penn Medicine
Fabry Disease
Fabry Screening Study
To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population
- Trial name
- NCT01019629
- Where
- United States
- Volunteers
- 2,724 people, healthy volunteers welcome
- Sponsor
- Baylor Research Institute
Patients With Parkinson's Disease (PD) Caused by the p.Gly2019Ser (G2019S) Pathogenic Mutation of the Leucine-Rich Repeat Kinase 2 (LRRK2) Gene
A Natural History Study of Patients With G2019S LRRK2 Parkinson's Disease
To characterize using a participant centered decentralized (at home) study featuring wearable technology and telemedicine to study disease change over time in patients with PD caused by the G2019S mutation in the LRRK2 gene and…
- Trial name
- NCT05349019
- Testing
- Observational
- Where
- United States
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Escape Bio, Inc.
Cancer, Precancerous Lesion
Molecular Markers in Cancers and Precancers (MOCA)
In oncology, the search for genetic alterations or infectious agents in tumour tissues has become a major medical challenge for diagnosis, prognosis, prediction of response to treatment and in particular to targeted therapies, or…
- Conditions
- Cancer, Precancerous Lesion, Healthy
- Trial name
- MOCA (NCT05257707)
- Testing
- Molecular biology
- Where
- France
- Volunteers
- healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Besancon
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
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
Parkinson's Disease With LRRK2 Mutation, Healthy Controls
Measure of Microglial Activation in the Brain of Parkinson Disease Patients With PET
There is accumulating evidence suggesting that inflammatory processes, through microglial activation, would play a key role in the neurodegenerative process of Parkinson's disease (PD).
- Conditions
- Parkinson's Disease With LRRK2 Mutation, Healthy Controls, Parkinson's Disease Without LRRK2 Mutation
- Trial name
- INFLAPARK (NCT02319382)
- Testing
- PET with the tracer 18F-DPA-714, PET with the tracer 11C-PE2I, MRI
- Where
- France
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Autism Spectrum Disorders
Susceptibility Genes in Autism Spectrum Disorders
The main objective of the study is to define, for Autism Spectrum Disorder, the extent of genetic variation in synaptic pathways that may be targeted for therapeutic development.
- Trial name
- NCT02628808
- Where
- 5 sites in France
- Volunteers
- 1,616 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Pancreatic Neoplasm, Peutz-Jeghers Syndrome
Cancer of the Pancreas Screening Study (CAPS 3)
The purpose of this study is to find the best and most sensitive screening modality (CT, MRI, EUS)for very small pre-cancerous pancreatic lesions and to treat these small lesions before they turn into cancer.
- Trial name
- CAPS 3 (NCT00438906)
- Testing
- Biopsy, Fine Needle Aspiration (FNA), Secretin (human synthetic) - ChiRhoClin
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Hepatocellular Carcinoma
Circulating Cell-free DNA as a Predictive Biomarker for Hepatocelluar Carcinoma.
Circulating free cell DNA (cfDNA) is extracellular fragmentation of nucleic acids that occurs both in plasma and serum. This kind of DNA which derived from the apoptotic/necrotic cells or the lysis of circulating tumor cells…
- Trial name
- NCT02036216
- Where
- 2 sites in United States, China
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Myeloproliferative Neoplasm
Evaluation of the Pathobiology of CALR-mutated MPN Cells
The purpose of this study is to understand why there is a greater risk of thrombosis in patients who have the JAK2 mutation as compared to those with CALR mutations.
- Trial name
- NCT06480591
- Testing
- Blood Draw
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Wake Forest University Health Sciences
Hereditary Breast and Ovarian Cancer, Mutation
Investigation of Tumour Spectrum of Germline Mutations in Breast and Ovarian Cancer Genes.
TUMOSPEC is a national family study designed to measure the relative and absolute risk of cancer for carriers of deleterious mutations to these "new" breast cancer (BC) susceptibility genes.
- Trial name
- TUMOSPEC (NCT03246841)
- Testing
- Genetic testing
- Where
- 2 sites in France
- Volunteers
- 7,274 people, healthy volunteers welcome
- Sponsor
- UNICANCER