Clinical trials: Mutation Abnormality
Melanoma, BRAF V600 Mutation
Bioequivalence 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
- NCT05810740
- Testing
- Binimetinib 15 MG, Binimetinib 45 MG
- Where
- France
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Pierre Fabre Medicament
Accelerated/Blast-phase Myeloproliferative Neoplasm, Chronic-phase Myelofibrosis
Combined Ruxolitinib and Enasidenib in Patients With Accelerated/Blast-phase Myeloproliferative Neoplasm or Chronic-phase Myelofibrosis With an IDH2 Mutation
The presence of IDH mutation is associated with worse survival in patients with myelofibrosis. Moreover IDH mutations are among the most frequently encountered events in MPNs that have progressed to acute myeloid leukemia.
- Conditions
- Accelerated/Blast-phase Myeloproliferative Neoplasm, Chronic-phase Myelofibrosis, IDH2 Mutation
- Trial name
- NCT04281498
- Testing
- Ruxolitinib, Enasidenib
- Where
- 11 sites in United States, Canada
- Volunteers
- 6 people, healthy volunteers welcome
- Sponsor
- John Mascarenhas
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
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.
The purpose of this study is to assess the safety, tolerability, biomarker and cognitive efficacy of investigational products in subjects who are known to have an Alzheimer's disease-causing mutation by determining if treatment…
- Conditions
- Alzheimers Disease, Dementia, Alzheimers Disease, Familial
- Trial name
- DIAN-TU (NCT04623242)
- Testing
- Gantenerumab, Solanezumab
- Where
- 25 sites in United States, Australia and 6 more
- Volunteers
- 194 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
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
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 (NCT06424236)
- Testing
- Gantenerumab
- Where
- 17 sites in United States, Australia and 4 more
- Volunteers
- 73 people, healthy volunteers welcome
- Sponsor
- Washington University School of Medicine
Genetic Disease, Nonsense Mutation
Phase 1 Study of ELX-02 in Healthy Adult Subjects
Phase 1 Multiple Ascending Dose Study in Normal Healthy Volunteers
- Trial name
- NCT03309605
- Testing
- ELX-02
- Where
- Belgium
- Volunteers
- 62 people, healthy volunteers welcome
- Sponsor
- Eloxx Pharmaceuticals, Inc.
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
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
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
Atopic Dermatitis, Ichthyosis Vulgaris
Genetic Screening for Filaggrin Mutation in Atopic Dermatitis and Ichthyosis Vulgaris in the African American Population
The investigators' primary objective is to identify common and rare mutations in the filaggrin gene in African American patients with a diagnosis of atopic dermatitis and ichthyosis vulgaris.
- Trial name
- NCT01016106
- Testing
- Buccal Swab
- Where
- 2 sites in United States
- Volunteers
- 35 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Schizophrenia, Psychotic Disorders
Acute Glycine Pharmacodynamic Study
The purpose of this study is to use proton magnetic resonance spectroscopy (MRS) at 4 Tesla to measure brain glycine levels noninvasively at baseline and for 2 hours after a single oral dose of a concentrated glycine-containing…
- Trial name
- NCT01610011
- Testing
- Glycine administration
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- Mclean Hospital
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
Major Depressive Disorder
Deplin® P.L.U.S. Program (Progress Through Learning Understanding & Support)
This study will be an observational study in which patients who have been prescribed Deplin® are invited to participate in surveys regarding their experiences with Deplin®.
- Trial name
- NCT01369030
- Testing
- Deplin®
- Where
- 2 sites in United States
- Volunteers
- 554 people, healthy volunteers welcome
- Sponsor
- Pamlab, Inc.
Atherosclerosis
Arterial Function and Atherosclerosis in Essential Thrombocythemia
The aim of the study is to examine (a) whether patients with JAK2 V617F positive ET in comparison to age-and sex-matched, apparently healthy control subjects show more advanced progression of arterial stiffness, pulse-wave…
- Trial name
- NCT03828422
- Testing
- imaging
- Volunteers
- 82 people, healthy volunteers welcome
- Sponsor
- University Medical Centre Ljubljana
Breast Cancer
One-stage Breast Reconstruction Using Dermal Matrix/Implant Versus Two-stage Expander/Implant Procedure
Currently the two-stage tissue expander/implant (TE/I) technique is the standard breast reconstructive option for breast cancer patients selected for immediate, skin-sparing mastectomy.
- Trial name
- AllodermRCT (NCT00956384)
- Testing
- One-stage dermal matrix/implant procedure, Two-stage tissue expander/implant procedure
- Where
- 4 sites in Canada
- Volunteers
- 198 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto