Clinical trials: Gene Mutation
Benign Breast Disease, Breast Cancer
Prolactin Receptor and Breast Diseases
Prolactin is known to play an important role in breast development and differentiation. Thus proliferative breast diseases are good models to unravel PRl / PRLR function in proliferative processes.
- Trial name
- Prolacsein (NCT00842465)
- Testing
- blood collection for hormonal status analysis, breast Biopsy or surgery, blood collection
- Where
- France
- Volunteers
- 735 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Methylmalonic Acidemia
Gene Therapy With hLB-001 in Pediatric Patients With Severe Methylmalonic Acidemia
The SUNRISE trial is a first-in-human (FIH), open-label, Phase 1/2 clinical trial designed to assess the safety, tolerability and preliminary efficacy of a single intravenous infusion of hLB-001 in pediatric patients with MMA…
- Trial name
- SUNRISE (NCT04581785)
- Testing
- hLB-001
- Where
- 4 sites in United States
- Volunteers
- 4 people
- Sponsor
- LogicBio Therapeutics, Inc
Dravet Syndrome, Epileptic Encephalopathies Associated With SCN1A Mutations
Expanded Access Use of Stiripentol in Dravet Syndrome or Sodium Channel Mutation Epileptic Encephalopathies
This is an expanded access use of Stiripentol in Dravet Syndrome or epileptic encephalopathies associated with sodium channel mutations who have failed other drugs in an effort to give them the best chance at seizure control and…
- Trial name
- NCT02239276
- Testing
- Stiripentol
- Where
- United States
- Sponsor
- Cook Children's Health Care System
Cystinosis
Use of Cysteamine in the Treatment of Cystinosis
Cystinosis is an inherited disease resulting in poor growth and kidney failure. There is no known cure for cystinosis, although kidney transplantation may help the renal failure and prolong survival.
- Trial name
- NCT00359684
- Testing
- Cysteamine
- Where
- United States
- Volunteers
- 330 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Non-small Cell Lung Cancer
The Recurrence Gene Profiles of Adjuvant Osimertinib Therapy in Resected Non-Small-Cell Lung Cancer
This study was a multicenter, real-world observational study aimed at characterizing the genomic landscape of recurrence in patients with EGFR-sensitizing mutation-positive early-stage (clinical stage IB-IIIA) non-small cell lung…
- Trial name
- RAISE (NCT06477055)
- Where
- 2 sites in China
- Volunteers
- 43 people
- Sponsor
- Hunan Province Tumor Hospital
Solitary Pulmonary Nodule, Lung Cancer
Bronchoscopic Approach to the Peripheral Lung Nodule - An Alternative Approach
Patients presenting with solitary or multiple lung nodules often require tissue confirmation in order to guide further management and determine if the lesion is benign or malignant.
- Trial name
- NCT00925210
- Testing
- Sequential pEBUS - ENB
- Where
- 2 sites in Canada
- Volunteers
- 60 people
- Sponsor
- University of Calgary
Caries,Dental
EVALUATION OF AN ALTERNATIVE TECHNIQUE FOR THE APPLICATION OF SODIUM FLUOROPHOSPHATE: A 2-YEARS DOUBLE-BLIND RCT
he study was designed as a double-blind three-parallel-group randomized controlled trial, in which the evaluators and a researcher, not involved in the evaluation process, was responsible for the randomization process, were…
- Trial name
- NCT05810389
- Testing
- Fluoride
- Where
- Argentina
- Volunteers
- 300 people
- Sponsor
- University of Buenos Aires
Prostate Cancer
An Alternative to A Fixed Schedule In Management Of Prostate Cancer
The male sex-hormone called testosterone is known to play a key role in the growth of prostate cancer. The usual treatment for the disease involves suppression of hormones (testosterone) by anti-hormonal treatment for an unknown…
- Trial name
- TADS (NCT01056562)
- Where
- Canada
- Volunteers
- 82 people
- Sponsor
- University Health Network, Toronto
Primary Hyperoxaluria
Primary Hyperoxaluria Mutation Genotyping/Phenotyping
Specific mutations relating to hyperoxaluria will be determined via DNA analysis by the Mayo RKSC research staff.
- Trial name
- NCT02340689
- Testing
- Genetic Analysis
- Where
- United States
- Volunteers
- 1,235 people
- Sponsor
- Mayo Clinic
SLC13A5 Citrate Transporter Disorder
Intrathecal Gene Therapy For SLC13A5 Citrate Transporter Disorder
Phase 1/2, open-label study to assess the efficacy and safety of a single lumbar intrathecal administration of TSHA-105 in individuals with SLC13A5 Citrate Transporter Disorder
- Trial name
- SLC13A5 (NCT07102524)
- Testing
- TSHA-105
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- TESS Research Foundation