Clinical trials: Genetics
Primary Immune Deficiency
Retrospective Chart Review of Subcutaneous IgG Use in Infants
This study is a retrospective chart review of the use of subcutaneous IgG (SCIG) in infants less than two years old.
- Trial name
- NCT01166074
- Testing
- Subcutaneous IgG (SCIG)
- Where
- 5 sites in United States
- Volunteers
- 27 people
- Sponsor
- CSL Behring
Genetic Syndrome
I-TOPS With Patients With Genetic Syndrome SYN-TOPS
Genetic syndromes involving the central nervous system are often associated with cognitive, behavioral and communication difficulties that negatively impact adaptive functioning and quality of life.
- Trial name
- SYN-TOPS (NCT07563218)
- Testing
- Italian Tailored Online Problem-Solving (I-TOPS)
- Where
- Italy
- Volunteers
- 42 people
- Sponsor
- IRCCS Eugenio Medea
Dental Plaque, Dental Prophylaxis
Effectiveness of Customized Handle Toothbrush
People with special needs suffer from many difficulties, including mental, physical or motor, which increase the difficulty of obtaining good oral health.
- Conditions
- Dental Plaque, Dental Prophylaxis, Dental Care
- Trial name
- NCT04845633
- Testing
- Evaluation of the Effectiveness of Conventional Toothbrush in Dental Plaque Control in Healthy Children, Evaluation of the Effectiveness of Customized Handle Toothbrush in Dental Plaque Control in Healthy Children, Evaluation of the Effectiveness of Conventional Toothbrush in Dental Plaque Control in Children with Down Syndrome
- Where
- Syria
- Volunteers
- 48 people
- Sponsor
- Damascus University
Melanoma, Dysplastic Nevus Syndrome
Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma
This study will investigate how genetic and environmental factors contribute to the development of melanoma, a type of skin cancer, and related conditions.
- Trial name
- NCT00040352
- Where
- 2 sites in United States
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- National Cancer Institute (NCI)
Sickle Cell Disease
Managed Access Programs for SEG101, Crizanlizumab
The purpose of this registration is to list Managed Access Programs (MAPs) related to SEG101, Crizanlizumab
- Trial name
- NCT03720626
- Testing
- crizanlizumab
- Sponsor
- Novartis Pharmaceuticals
Epilepsy, Focal Cortical Dysplasia
Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery
Refractory epilepsy, meaning epilepsy that no longer responds to medication, is a common neurosurgical indication in children. In such cases, surgery is the treatment of choice.
- Conditions
- Epilepsy, Focal Cortical Dysplasia, Tuberous Sclerosis, Hemimegalencephaly
- Trial name
- NCT04344626
- Testing
- Intra-operative brain tonometry
- Where
- 2 sites in United States, Canada
- Sponsor
- University of California, Los Angeles
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 25 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three…
- Conditions
- Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X Linked, Genetic Diseases, X-Linked
- Trial name
- Met (NCT03479476)
- Testing
- Metformin
- Where
- 3 sites in United States, Canada
- Volunteers
- 120 people
- Sponsor
- University of California, Davis
Osteogenesis Imperfecta
Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI)
Children with osteogenesis imperfecta are described as extremely sedentary and therefore fatigable, which strongly impacts their daily activities.
- Trial name
- NCT02542540
- Testing
- Training with Nintendo Wii console
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Centre Hospitalier Universitaire de Saint Etienne
Primary Immune Deficiency, COVID
COVID-19 in PID Survey
With the emergence of SARS-CoV-2 and the COVID-19 pandemic, there is an urgent need to understand the impact of infection on immunodeficient individuals.
- Trial name
- COPID19 (NCT04459689)
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Imagine Institute
FSHD - Facioscapulohumeral Muscular Dystrophy
Ten Year Follow-up in FSHD: the FOCUS 3 Study
This study aims to assess longitudinal data in 170 adult and 30 pediatric genetically and clinically well-defined facioscapulohumeral dystrophy (FSHD) patients.
- Trial name
- FSHD-FOCUS 3 (NCT06911190)
- Where
- Netherlands
- Volunteers
- 200 people
- Sponsor
- Radboud University Medical Center
Late Onset Alzheimer Disease
Response to Donepezil, Drug Plasma Concentration and the CYP2D6 and APOE Genetic Polymorphisms
Pharmacological treatment of AD is currently based on cholinesterase inhibitors (ChEI) and memantine, which have been shown to lead to modest, although effective, clinical benefits.
- Trial name
- NCT03349320
- Volunteers
- 37 people, healthy volunteers welcome
- Sponsor
- Federal University of Minas Gerais
Rett Syndrome
Telehealth Support to Increase Physical Activity in Rett Syndrome
This study will recruit families with a daughter with Rett syndrome living in either Australia, Denmark or Israel, and thereafter deliver individually designed participation programs using telehealth strategies.
- Trial name
- ActivRett (NCT04167059)
- Testing
- Telehealth-delivered participation strategies to increase physical activity
- Where
- 2 sites in Denmark, Israel
- Volunteers
- 60 people
- Sponsor
- Telethon Kids Institute
Epidermolysis Bullosa
Phase III Efficacy and Safety Study of Oleogel-S10 in Epidermolysis Bullosa
This was a Phase III, Efficacy and Safety Study of Oleogel-S10 in Participants with Inherited Epidermolysis Bullosa (EB). EB is a rare group of genetic skin fragility disorders characterised by blistering of the skin in response…
- Trial name
- EASE (NCT03068780)
- Testing
- Oleogel-S10, Control gel
- Where
- 51 sites in United States, Argentina and 24 more
- Volunteers
- 223 people
- Sponsor
- Amryt Research Limited
Duchenne Muscular Dystrophy (DMD)
Safety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping
The primary purpose of this study is to evaluate the safety, tolerability, and dystrophin protein levels in muscle tissue following multiple intravenous (IV) doses of DYNE-251 in participants with Duchenne muscular dystrophy…
- Trial name
- DELIVER (NCT05524883)
- Testing
- DYNE-251
- Where
- 30 sites in United States, Australia and 7 more
- Volunteers
- 86 people
- Sponsor
- Dyne Therapeutics
Cancer
Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation
RATIONALE: Giving itraconazole or fluconazole may be effective in preventing infections in patients undergoing peripheral stem cell or bone marrow transplantation.
- Trial name
- NCT00003883
- Testing
- fluconazole, itraconazole
- Where
- 2 sites in United States
- Volunteers
- 578 people
- Sponsor
- Fred Hutchinson Cancer Center
Tourette Syndrome
Thalamic Deep Brain Stimulation for the Treatment of Refractory Tourette Syndrome
This research is being performed to try to understand if the use of deep brain stimulation or DBS can treat the symptoms of Tourette syndrome that do not respond well to current medications.
- Trial name
- NCT01817517
- Testing
- Medtronic Activa Deep Brain Stimulation System
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Johns Hopkins University
Atypical Femoral Fractures, Osteoporosis
Exome Sequencing for Atypical Femoral Fractures
The purpose of this study is to determine whether women who have atypical subtrochanteric and diaphyseal femoral fractures after treatment with bisphosphonates for osteoporosis, have a genetic predisposition to these unusual…
- Conditions
- Atypical Femoral Fractures, Osteoporosis, Bisphosphonate Therapy
- Trial name
- NCT02731040
- Testing
- Bisphosphonate
- Volunteers
- 38 people
- Sponsor
- Washington University School of Medicine
Dermatitis, Atopic
Tacrolimus Ointment Pharmacokinetics in Infants With Atopic Dermatitis
The purpose of this study is to estimate the systemic exposure to tacrolimus in infants with atopic dermatitis after repeated application of tacrolimus ointment.
- Trial name
- NCT00535691
- Testing
- Tacrolimus Ointment 0.03%
- Where
- 8 sites in Canada, Finland and 3 more
- Volunteers
- 53 people
- Sponsor
- Astellas Pharma Inc
Sickle Cell Anemia
Pediatric Hydroxyurea Phase III Clinical Trial (BABY HUG) Follow-up Observational Study II Protocol
The BABY HUG Treatment Study was designed to see if treatment with the drug hydroxyurea (also called HU) in children with sickle cell disease could prevent organ damage, especially in the spleen and kidneys.
- Trial name
- BABY HUG (NCT01783990)
- Testing
- Hydroxyurea
- Where
- 14 sites in United States
- Volunteers
- 150 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Pompe Disease
Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Disease
Health related quality of life (HrQoL), is "the patient's subjective perception of the impact of his disease and its treatment on his daily life, physical, psychological and social functioning and well-being" and thus constitutes…
- Trial name
- Pompe_HrQol (NCT04724213)
- Testing
- Testing of reliability / validity of new questionnaire
- Where
- Switzerland
- Volunteers
- 101 people
- Sponsor
- University Children's Hospital, Zurich
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