Clinical trials: Genetics
Rett Syndrome
The Rett Syndrome Global Registry
The Rett Global Registry is a fully remote, global, caregiver-reported registry to collect information about caring for a loved one with Rett syndrome.
- Trial name
- NCT04900493
- Where
- United States
- Volunteers
- 5,000 people
- Sponsor
- Rett Syndrome Research Trust
Pulp Exposure, Dental, Pulp Disease, Dental
The Effect of Genetic Polymorphisms on the Success of Vital Pulp Therapy
This study employs saliva-based DNA analysis to investigate the effect of genetic polymorphisms, particularly SNPs in MMP, TIMP, TNF-α, and BMP genes, on the success of vital pulp therapy in permanent teeth with pulpitis…
- Conditions
- Pulp Exposure, Dental, Pulp Disease, Dental, Pulp Caping, Pulpitis
- Trial name
- NCT07130214
- Testing
- Biodentine
- Where
- Turkey (Türkiye)
- Volunteers
- 96 people
- Sponsor
- Ataturk University
Fragile x Syndrome
Ganaxolone Treatment in Children With Fragile X Syndrome
This Phase 2 proof-of-concept study is a double-blind, randomized, placebo-controlled, crossover study to investigate ganaxolone treatment in children with fragile x syndrome (FXS).
- Trial name
- NCT01725152
- Testing
- Ganaxolone
- Where
- 2 sites in United States, Belgium
- Volunteers
- 59 people
- Sponsor
- Marinus Pharmaceuticals
Down Syndrome, Balance
The Effects of Kinesiotaping on Balance in Children With Down Syndrome.
This study aimed to explore the effects of Kinesio tape applied to plantar soles on balance in children with Down Syndrome (DS). Two groups including children with DS and a group with their typically developing peers evaluated.
- Trial name
- NCT04156607
- Testing
- Kinesio taping
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Gazi University
Mucolipidosis Type IV
Mucolipidosis Type IV Natural History Study
The primary objectives of the study are: to describe the characteristics of the current international MLIV population; to define the median age at which patients with MLIV achieve or lose developmental milestones; to define the…
- Trial name
- NCT05782387
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Massachusetts General Hospital
Pancreatic Exocrine Insufficiency
The Development of a Metabolomic Test to Diagnose and Quantify Pancreatic Exocrine Insufficiency (The DETECTION Study)
DETECTION. The development of a metabolomic test to diagnose and quantify pancreatic exocrine insufficiency.
- Trial name
- DETECTION (NCT05980221)
- Testing
- Metabolomics, 13C MTGT
- Where
- United Kingdom
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- University Hospital Birmingham NHS Foundation Trust
Atopic Dermatitis, Ichthyosis
Asthma and Atopic Dermatitis Validation of PROMIS Pediatric Instruments
This is designated to validate patient-reported outcomes (PRO) measures in itch-specific pediatric skin conditions, such as atopic dermatitis, and examine the ability of a modified stigma instrument to assess the severity and…
- Conditions
- Atopic Dermatitis, Ichthyosis, Psoriasis
- Trial name
- NCT03051347
- Testing
- Itch Questionnaire and Interview, Stigma Questionnaire and Interview, Cognitive Interview and PROMIS Itch Questionnaire
- Where
- United States
- Volunteers
- 943 people
- Sponsor
- Northwestern University
Pediatric Cancer, Li-Fraumeni Syndrome
Arsenic Trioxide Combined With Chemotherapy for the Treatment of p53-mutated Pediatric Cancer
This prospective, single-arm, multi-center clinical trial aims to explore and evaluate the efficacy and safety of arsenic trioxide combined with chemotherapy for pediatric cancer with p53 mutation.
- Conditions
- Pediatric Cancer, Li-Fraumeni Syndrome, p53 Mutations
- Trial name
- NCT06088030
- Testing
- Arsenic trioxide
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Yang Li
Shwachman Syndrome, Fanconi's Anemia
Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes
OBJECTIVES: I. Assess the efficacy of recombinant human granulocyte colony-stimulating factor (G-CSF) in raising the absolute neutrophil count, platelet count, and hemoglobin level in patients with inherited bone marrow failure…
- Conditions
- Shwachman Syndrome, Fanconi's Anemia, Dyskeratosis Congenita, Thrombocytopenia
- Trial name
- NCT00004787
- Testing
- filgrastim
- Volunteers
- 20 people
- Sponsor
- National Center for Research Resources (NCRR)
Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage
HEMOLEVEN® Expanded Access Program Prevention of Surgical/Postpartum Hemorrhage Severe Inherited Factor XI Deficiency
The objective of the Expanded Access Program is to provide HEMOLEVEN, a replacement coagulation factor XI, to patients with severe inherited factor XI deficiency where, in the opinion of the treating physician, the benefits of…
- Conditions
- Wound; Rupture, Surgery, Cesarean Section, Postpartum Hemorrhage, Surgery
- Trial name
- EAP (NCT01701947)
- Testing
- Hemoleven
- Where
- United States
- Sponsor
- Laboratoire français de Fractionnement et de Biotechnologies
WAGR Syndrome, Wilm's Tumor
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
This study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of…
- Conditions
- WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities
- Trial name
- NCT00758108
- Where
- United States
- Volunteers
- 197 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Cystic Fibrosis
Surrogate Markers of Response to New Therapies in Cystic Fibrosis Patients
The purpose of this study is to determine which biological marker, or association of biological markers, best predict clinical response of cystic fibrosis patients to CFTR modulators.
- Trial name
- BIO-CFTR (NCT02965326)
- Testing
- Nasal swab; rectal biopsy.
- Where
- France
- Volunteers
- 75 people
- Sponsor
- Hôpital Necker-Enfants Malades
Osteosarcoma
Genetic Biomarkers in Tissue Samples From Patients With Osteosarcoma
This clinical trial studies genetic biomarkers in tissue samples from patients with osteosarcoma. Studying samples of tissue from patients with cancer in the laboratory may help doctors learn more about changes that occur in DNA…
- Trial name
- NCT01807143
- Testing
- laboratory biomarker analysis
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Oncology Group
Rotavirus, Diarrhea
Response to Rotavirus Vaccine in Infants in Ho Chi Minh City in Vietnam
The primary objective is to measure the effect of host human genetics on the resulting immunological responses and long-term protection following rotavirus immunization of a study population of infants in Ho Chi Minh City…
- Trial name
- NCT03587389
- Testing
- Rotarix vaccine
- Where
- Vietnam
- Volunteers
- 818 people, healthy volunteers welcome
- Sponsor
- Oxford University Clinical Research Unit, Vietnam
Corneal Dystrophy
Corneal Endothelium Morphology and Central Thickness in Type II Diabetes Mellitus and Normal Subjects
The purpose of this study is to compare corneal endothelium morphology and central thickness in type II Diabetes Mellitus and normal subjects with special reference to glycemic status.
- Trial name
- NCT01084850
- Where
- Denmark
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Frederiksberg University Hospital
Thalassemia Major
The Effect of N-acetylcysteine on Oxidative Stress Status and Iron Overload in Thalassemia Major
The effect of N-acetylcysteine as antioxidant and its effect on pretransfusion hemoglobin and iron overload in patients with thalassemia were compared to patients who didn't receive n-acetylcysteine after 3 months of study…
- Trial name
- NCT04260516
- Testing
- N-acetyl cysteine
- Where
- Egypt
- Volunteers
- 100 people
- Sponsor
- Beni-Suef University
Dilated Cardiomyopathy
Intramuscular Injection of Mesenchymal Stem Cell for Treatment of Children With Idiopathic Dilated Cardiomyopathy
The main aim of the study is to determine whether intramuscular injection of umbilical cord mesenchymal stem cells can improve the ventricular function of children with idiopathic dilated cardiomyopathy(IDCM); Secondary…
- Trial name
- NCT01219452
- Testing
- umbilical cord mesenchymal stem cells
- Where
- China
- Volunteers
- 30 people
- Sponsor
- Qingdao University
Myotonic Dystrophy, Congenital, Myotonic Dystrophy, Type 1 (DM1)
Music Intervention for Brain-Heart Disease in Myotonic Dystrophy Type 1 (DM1)
The goal of this interventional study is to demonstrate the feasibility and tolerability of music and movement intervention for children with congenital DM1, while providing indications of its effectiveness in improving brain and…
- Conditions
- Myotonic Dystrophy, Congenital, Myotonic Dystrophy, Type 1 (DM1), Myotonic Dystrophy Type 1, Myotonic Dystrophy Type 1 (DM1)
- Trial name
- NCT06809049
- Testing
- Music and movement education
- Where
- Canada
- Volunteers
- 13 people
- Sponsor
- Hanns Lochmuller
Friedreich Ataxia
A Study to Assess the Efficacy and Safety of Vatiquinone for the Treatment of Participants With Friedreich Ataxia
The primary objective of the study is to evaluate the efficacy (using the modified Friedreich Ataxia Rating Scale [mFARS]) and safety of vatiquinone in participants with Friedreich ataxia (FA).
- Trial name
- MOVE-FA (NCT04577352)
- Testing
- Vatiquinone
- Where
- 14 sites in United States, Australia and 7 more
- Volunteers
- 146 people
- Sponsor
- PTC Therapeutics
Type 1 Diabetes Mellitus
A Phase III Study to Investigate if the Study Drug Diamyd Can Preserve Insulin Production and Improve Glycemic Control in Patients Newly Diagnosed With Type 1 Diabetes
The objective of DIAGNODE-3 is to evaluate the efficacy and safety of three intranodal injections of 4 μg of Diamyd also known as retogatein compared to placebo, along with oral Vitamin D supplementation, to preserve endogenous…
- Trial name
- DIAGNODE-3 (NCT05018585)
- Testing
- Recombinant human glutamic acid decarboxylase (rhGAD65) formulated in Alhydrogel®, Colecalciferol 2000 IU
- Where
- 60 sites in United States, Czechia and 7 more
- Volunteers
- 321 people
- Sponsor
- Diamyd Medical AB
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