Clinical trials: Genetic Change
Atopic Dermatitis, Eczema
Evaluating Skin Barrier Dysfunction in Infants at High Risk of Atopy
It is hypothesized that food allergy is preceded by atopic dermatitis (AD), due to a disruption of skin barrier which can predispose one to food sensitization through the skin.
- Conditions
- Atopic Dermatitis, Eczema, Food Allergy
- Trial name
- NCT03089476
- Testing
- Evaluating atopy in infants, Evaluating TEWL and STS in adults
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Jewish Health
Zellweger Spectrum Disorder
Longitudinal Prospective Natural History Study of Retinopathy in Zellweger Spectrum Disorder
The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. The objective of this study is to gather information so the investigators can: 1.
- Trial name
- ZSDvision (NCT06190626)
- Where
- 3 sites in United States, Canada
- Volunteers
- 30 people
- Sponsor
- McGill University Health Centre/Research Institute of the McGill University Health Centre
NF2 Deficiency
Gene Therapy for Neurofibromatosis Type 2 (NF2) with ST002
This is an open-label, single-arm, dose-escalation pilot study to evaluate the safety, tolerability and preliminary efficacy of ST002 in the treatment of patients with NF2 mutation-related solid tumors.
- Trial name
- NCT06834438
- Testing
- ST002
- Where
- China
- Volunteers
- 9 people
- Sponsor
- Cancer Institute and Hospital, Chinese Academy of Medical Sciences
Atopic Dermatitis
Tolerance and Efficacy Open-label Study With RV4421B, in Various Populations With Atopic Dermatitis for 12 Weeks
Pierre Fabre Laboratories have developed a cream with medical device status, RV4421B-EV0407 indicated for the treatment of eczemas, including atopic eczema, contact eczema and chronic hand eczema.
- Trial name
- NCT07014007
- Testing
- RV4421B- EV0407
- Where
- Mauritius
- Volunteers
- 105 people
- Sponsor
- Pierre Fabre Dermo Cosmetique
Pentalogy of Cantrell, Mutations in Non-muscle Genes
Genes Mutation Pentalogy of Cantrell
This study will collect blood, urine, and other tissue samples from 50 patients study-wide with Pentalogy of Cantrell and other inherited diseases that involve mutations in non-muscle genes.
- Trial name
- NCT00477932
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- Children's Healthcare of Atlanta
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
Down Syndrome
Non-drug Study to Assess the Suitability of Assessment Scales in Japanese Individuals With Down Syndrome Aged 6-30
To evaluate the suitability (i.e. number of tests completed and number of participants completing the tests, variance estimate of baseline and of the change from baseline values) of neurocognitive tests and functioning scales in…
- Trial name
- NCT02431117
- Where
- 7 sites in Japan
- Volunteers
- 43 people
- Sponsor
- Chugai Pharmaceutical
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
Metachromatic Leukodystrophy (MLD)
Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD
This is a Phase I/II clinical trial of gene therapy for treating Metachromatic leukodystrophy (MLD) using a safety and efficacy improved self-inactivating lentiviral vector TYF-ARSA to transduce patient-derived hematopoietic stem…
- Trial name
- NCT07046338
- Testing
- Lentiviral TYF-ARSA correction of patient's autologous HSCs
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
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)
Breast Cancer
Lynparza Breast Cancer Clinical Experience Investigation
To characterise the development of ADRs of bone marrow depression in patients under actual post-marketing use
- Trial name
- NCT03590938
- Where
- 31 sites in Japan
- Volunteers
- 111 people
- Sponsor
- AstraZeneca
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
Glioma, Recurrence
Vorasidenib Expanded Access Program
This is an expanded access program to provide vorasidenib for treatment of patients 12 years or older with IDH1- or IDH2-mutated glioma.
- Conditions
- Glioma, Recurrence, Disease Attributes, Pathologic Processes
- Trial name
- NCT05592743
- Testing
- Vorasidenib
- Sponsor
- Servier
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