Clinical trials: Genetic Mutations
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Natural History Study of and Genetic Modifiers in Spinocerebellar Ataxias
Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 6
- Trial name
- NCT01060371
- Testing
- Genetic Testing, Blood Collection, Magnetic Resonance Imaging (MRI) Scan
- Where
- 17 sites in United States, Canada
- Volunteers
- 1,400 people, healthy volunteers welcome
- Sponsor
- Lauren Moore
Somatic Mutation
Exploring the Landscape of Somatic Mutations in Human Tissue
Every cell in the human body contains a blueprint of the body called the genome. Throughout life, the genome can become damaged resulting in errors (mutations) that can change the way cells behave and may result in diseases such…
- Trial name
- NCT06585800
- Testing
- sample collection
- Where
- United Kingdom
- Volunteers
- 1,800 people, healthy volunteers welcome
- Sponsor
- The Wellcome Sanger Institute
Advanced Lymphoma, Advanced Malignant Solid Neoplasm
Testing BVD-523FB (Ulixertinib) as Potentially Targeted Treatment in Cancers With Genetic Changes (MATCH - Subprotocol Z1L)
This phase II MATCH treatment trial tests how well BVD-523FB (ulixertinib) works in treating patients with cancer that has certain genetic changes.
- Conditions
- Advanced Lymphoma, Advanced Malignant Solid Neoplasm, Refractory Lymphoma, Refractory Malignant Solid Neoplasm
- Trial name
- NCT06400225
- Testing
- Biopsy Procedure, Biospecimen Collection, Computed Tomography
- Where
- United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
MELAS or m.3243 A>G Mitochondrial DNA Mutation Carrier
Natural History Study - Mitochondrial Disease
Carriers of the m.3242A>G mutation often have clinical symptoms which can include migraines, seizures, strokes, hearing loss, balance issues, gastrointestinal issues, and many other symptoms.
- Trial name
- NCT01532791
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Columbia University
Dravet Syndrome
Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome
This study addresses the changes in the axonal excitability parameters. It will compare these changes in patients with early infantile epileptic encephalopathy with HCN1 channel mutation and in control patients, with and without…
- Trial name
- EXCIDRAH (NCT02896608)
- Testing
- measure of neuronal excitability
- Where
- France
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
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
Type 2 Diabetes Mellitus, Gene Polymorphisms
Effect of Mutations in T2DM Susceptibility Genes on the Expression of Susceptibility Genes in Patients With T2DM and Controls
In this study, investigators wanted to determine the effect of T2DM susceptibility gene mutations on self-expression. Participants (T2DM patients and controls) were recruited to identify genotypes and detect the levels of T2DM…
- Conditions
- Type 2 Diabetes Mellitus, Gene Polymorphisms, Genetic Mutations, Susceptibility, Genetic
- Trial name
- NCT06277466
- Testing
- Fresh normal pancreatic tissues or adjacent tissues of pancreatic cancer were collected from controls and T2DM patients without hypoglycemic drugs, Fresh blood samples were collected from healthy subjects and T2DM patients without hypoglycemic drugs
- Where
- China
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- The Affiliated Hospital of Xuzhou Medical University
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
Parkinson Disease
Assessing the Polygenic Burden of Rare Disruptive Mutations in Parkinson's Disease
The project intends to assess the polygenic burden of rare disruptive mutations in Parkinson's disease (PD) and how they influence the phenotype/pathological heterogeneity of disease.
- Trial name
- NCT04620980
- Testing
- targeted resequencing
- Where
- Italy
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- Neuromed IRCCS
Parkinson Disease
Characteristics of Parkinson s Disease Associated With the LRRK-2 Gene Mutation
This study will identify symptoms and other characteristics of Parkinson s disease that may be associated with changes in a gene called leucine-rich repeat kinase 2 (LRRK2).
- Trial name
- NCT00467090
- Where
- United States
- Volunteers
- 34 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Infections, Pneumonia
Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES)
The Hyper IgE Syndromes (HIES) are primary immunodeficiencies resulting in eczema and recurrent skin and lung infections. Autosomal dominant Hyper IgE syndrome (AD-HIIES; Job's syndrome) is caused by STAT3 mutations, and is a…
- Conditions
- Infections, Pneumonia, Immune System Diseases, STAT3 Transcription Factor
- Trial name
- NCT00006150
- Where
- United States
- Volunteers
- 600 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Kartagener Syndrome
Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
The overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect…
- Trial name
- NCT00807482
- Where
- United States
- Volunteers
- 1,800 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Alzheimers Disease, Dementia
Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. Master Protocol DIAN-TU-001
The purpose of this study is to assess the safety, tolerability, biomarker, cognitive and clinical efficacy of investigational products in participants with an Alzheimer's disease-causing mutation by determining if treatment with…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT01760005)
- Testing
- Gantenerumab, Solanezumab, E2814
- Where
- 38 sites in United States, Argentina and 13 more
- Volunteers
- 490 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Duchenne Muscular Dystrophy, Exon 44
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping
AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants…
- Trial name
- EXPLORE44 (NCT05670730)
- Testing
- AOC 1044
- Where
- 10 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Avidity Biosciences, Inc.
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
Cancer Gene Mutation
Telephone Versus In-person Post-test Cancer Genetic Counseling
The purpose of the GEO-STAR randomized non-inferiority trial is to compare the outcome of post-test telephone cancer genetic counseling with standard in-person cancer genetic counseling.
- Trial name
- GEO-STAR (NCT04759352)
- Testing
- Post-test genetic counseling delivered by telephone
- Where
- Italy
- Volunteers
- 724 people, healthy volunteers welcome
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
MELAS, LHON
A Dose-escalating Clinical Trial With KH176
Mitochondrial Diseases are rare progressive, multi-system, often early fatal disorders affecting both children and adults. KH176 is a novel chemical entity currently under development for the treatment of inherited mitochondrial…
- Conditions
- MELAS, LHON, Leigh Syndrome, Mitochondrial Disease
- Trial name
- NCT02544217
- Testing
- KH176
- Where
- Belgium
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Khondrion BV
Hyperekplexia
Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing
Mutations in genes affecting pain transmission start to be known, the investigators are investigating a mutation in a glycine channel, which has an influence on pain modulation.
- Trial name
- NCT01476514
- Testing
- No intervention
- Where
- Switzerland
- Volunteers
- 9 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Familial Mediterranean Fever, MEFV Gene Mutation
Characterization of a Functional Test for Mediterranean Family Fever Screening - 2
Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease (prevalence: 1-5 / 10,000 inhabitants). It is caused by mutations in the MEFV gene, which encodes variants of the Pyrine inflammasome.
- Trial name
- DEPIST-FMF 2 (NCT04478409)
- Testing
- one additional blood sample during a planned blood test
- Where
- 8 sites in France
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Lynch Syndrome, Lynch Syndrome I
Videocapsule Endoscopy in Lynch Syndrome
Background Lynch syndrome is caused by a pathogenic variant in one of the four Mismatch Repair genes (MMR): MLH1, MSH2/Epcam, MSH6, or PMS2.
- Conditions
- Lynch Syndrome, Lynch Syndrome I, Lynch Syndrome II, MLH1 Gene Mutation
- Trial name
- NCT05704010
- Testing
- Video capsule endoscopy
- Where
- Italy
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- San Raffaele University