Clinical trials: Genetic Mutation
Autosomal Dominant Polycystic Kidney Disease (ADPKD)
Phase 1 Study to Evaluate the Safety and Tolerability of Intravenously Administered PYC-003
This is a Phase 1, First-in-Human study to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD) and immunogenicity of PYC-003 in healthy adult participants and adult participants with confirmed PKD1…
- Trial name
- NCT06714006
- Testing
- PYC-003
- Where
- 12 sites in Australia, Hong Kong and 1 more
- Volunteers
- 166 people, healthy volunteers welcome
- Sponsor
- PYC Therapeutics
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
- Trial name
- NCT00589225
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 902 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Colorectal Cancer
Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI
Objectives: In this Radboud University Nijmegen Medical Centre (RUNMC) initiated study our first objective is to investigate toxicity (safety and feasibility) of vaccination with frameshift-derived neoantigen-loaded DC of CRC…
- Trial name
- NCT01885702
- Testing
- DC vaccination
- Where
- Netherlands
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Radboud University Medical Center
Frontotemporal Lobar Degeneration
Natural History Characterization in Symptomatic and Asymptomatic Progranuline Gene Mutation Carriers
The purpose of this study is to investigate whether cognitive deficits, structural and functional changes can be detected before symptom onset in presymptomatic progranuline mutation carriers.
- Trial name
- Predict-PGRN (NCT04014673)
- Testing
- Behavioral : Characterization
- Where
- 2 sites in France
- Volunteers
- 78 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Lumbar Spinal Stenosis, Cardiac Amyloidosis
Analysis of Lumbar Spine Stenosis Specimens for Identification of Transthyretin Cardiac Amyloidosis
Primary objective: To identify older adults with transthyretin cardiac amyloidosis (ATTR-CA) early in the course of the illness, at a time when disease modifying therapies are most effective.
- Conditions
- Lumbar Spinal Stenosis, Cardiac Amyloidosis, ATTR Amyloidosis Wild Type, ATTR Gene Mutation
- Trial name
- NCT06034405
- Testing
- Tc99-PYP or Tc99-HDMP Scan
- Where
- 6 sites in United States
- Volunteers
- 1,663 people, healthy volunteers welcome
- Sponsor
- Columbia University
Mutation, Point
Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease
In a previous study, we have identified a consanguineous family from Northern Israel with three children affected by idiopathic infantile nystagmus (IIN) and foveal hypoplasia, which follow an autosomal recessive mode of…
- Trial name
- NCT03566745
- Testing
- Blood for protein activity
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Hillel Yaffe Medical Center
Short Stature
IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
With this study we want to investigate the pharmacokinetic (PK) effect of a single injection of rhIGF-1 in patients with PAPP-A2 mutations compared to heterozygous carriers and healthy controls.
- Trial name
- NCT02636270
- Testing
- Increlex
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
BRCA1/2 Mutation
INO 5401 Vaccination in BRCA1/2 Mutation Carriers
The research study is being conducted to test an experimental vaccine to potentially prevent cancer for people with BRCA1 or BRCA2 mutations.
- Trial name
- NCT04367675
- Testing
- INO-5401, INO-9012, Cellectra 2000
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- University of Pennsylvania
Mesothelioma, Malignant Pleural
Genetic Susceptibility in MAlignant Pleural Mesothelioma: Clinical Implication of GermliNE variaTionS
Malignant pleural mesothelioma (MPM) is a rare and aggressive neoplasm of the pleural mesothelium, mainly associated to asbestos exposure, still lacking effective therapies.
- Trial name
- MAGNETS (NCT06886672)
- Where
- 2 sites in Italy
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
Breast Cancer, Pain, Postoperative
Botulinum Toxin A (Botox) in Tissue Expander Breast Reconstruction
Each year, the number of breast cancer survivors who choose post-mastectomy breast reconstruction keeps rising. Among women who elect to pursue breast reconstruction, approximately 75% will choose prosthetic breast…
- Conditions
- Breast Cancer, Pain, Postoperative, BRCA1 Mutation, BRCA2 Mutation
- Trial name
- NCT01591746
- Testing
- Botulinum Toxin Type A
- Where
- United States
- Volunteers
- 131 people, healthy volunteers welcome
- Sponsor
- Mayo Clinic
Parkinson Disease
LRRK2 Mutation and Parkinson's Disease
The Leucine-Rich Repeat Kinase 2 (LRRK2) is implicated in autosomal dominant Parkinson's disease (PKD). An inhibitor for the leucine-rich repeat kinase 2 (LRRK2) is in pre-clinical development for potential use in treating…
- Trial name
- NCT01424475
- Testing
- Healthy, PKD Patients
- Where
- United Kingdom
- Volunteers
- 5 people, healthy volunteers welcome
- Sponsor
- GlaxoSmithKline
Lung Adenocarcinoma
Osimertinib to Suppress the Progression of Remaining GGN for EGFR Mutation-positive Stage IB-IIIA Lung Adenocarcinoma
This is an open label, phase II study to assess the efficacy of osimertinib (80 mg, orally, once daily) to suppress the progression of remaining GGN(s) in other lobes following surgical resection for actionable EGFR…
- Trial name
- NCT05528458
- Testing
- Osimertinib 80Mg Tab
- Where
- South Korea
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
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
Breast Cancer, Genetic Predisposition
Psyco Quality of Life and Procreation BRCA1/2
Women with breast and/or ovarian cancer or with a family history carried these pathologies can makeo genetic counseling in order to investigate whether they are carriers of the BRCA1/2 genetic mutation.
- Trial name
- QoL (NCT05857670)
- Testing
- Genetic predisposition to breast cancer
- Where
- 2 sites in Italy
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Regina Elena Cancer Institute
Predictive Cancer Model
Innovative Approach to Detect Recurrent Colorectal Lesions With Surveillance Via Mutation Analysis & Clinical Phenotype
It is known that the development of colorectal adenoma is dependent on the appearance of somatic mutations in protooncogenes and tumor suppressor genes.
- Trial name
- MTG (NCT05929365)
- Testing
- colonoscopy
- Where
- Czechia
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Military University Hospital, Prague
Advanced Non-small Cell Lung Cancer, EGFR Mutation
A Study to Learn About How BAY2927088 Affects the Level of Midazolam in the Blood When Both Drugs Are Taken Together in Healthy Participants
Researchers are looking for a better way to treat people who have advanced non-small cell lung cancer (NSCLC) with specific genetic changes called Epidermal growth factor receptor (EGFR) and Human epidermal growth factor receptor…
- Conditions
- Advanced Non-small Cell Lung Cancer, EGFR Mutation, HER2 Mutation, Healthy Volunteers
- Trial name
- NCT06360211
- Testing
- BAY2927088, Midazolam
- Where
- United States
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Bayer
Hirschsprung Disease
Genetic Mosaicism in Hirschsprung's Disease
Hirschsprung's disease is a complex genetic disorder. The etiology of this disease is not completely understood. It is characterized by the absence of ganglia (nerve cells) in de distal colon.
- Trial name
- NCT01927809
- Where
- 2 sites in Netherlands
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Erasmus Medical Center
Breast Cancer, Hereditary Breast and Ovarian Cancer
Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier Registry
PROGECT is a registry for patients with Triple Negative breast cancer (TNBC) or patients who have an identified germline mutations (such as a mutation on the BRCA1 or BRCA2 genes).
- Trial name
- PROGECT (NCT02302742)
- Where
- 11 sites in United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- University of Kansas Medical Center
Alzheimers Disease, Dementia
A Study of a Potential Disease Modifying Treatment in Individuals at Risk for or With a Type of Early Onset AD Caused by a Genetic Mutation
The purpose of this research study is to test the study drug, referred to as remternetug, to determine its effectiveness for the study treatment of asymptomatic (at risk) Alzheimer disease in individuals with AD-causing…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU-002 (NCT06647498)
- Testing
- Remternetug
- Where
- 37 sites in United States, Argentina and 13 more
- Volunteers
- 280 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Glaucoma, Healthy
Cause of Pigment Dispersion Syndrome
The purpose of this study is to learn how pigment is released from the iris (the colored part of the eye) in patients with pigment dispersion syndrome.
- Conditions
- Glaucoma, Healthy, Pigment Dispersion Syndrome
- Trial name
- NCT00005919
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- National Eye Institute (NEI)