Clinical trials: Genetic Disorder
Tourette Syndrome, Habit Reversal Training
Extinction Learning in Adults With Tourette Syndrome
Aversive sensory phenomena such as premonitory urges play a central role in the behavioral treatment model of tics. Extinction learning and extinction recall are learning processes implicated within this model, but are still…
- Conditions
- Tourette Syndrome, Habit Reversal Training, Tic Disorders, Tics
- Trial name
- NCT04498364
- Testing
- Habit Reversal Training
- Where
- United States
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Cystic Fibrosis
Bioequivalence and Safety of Vantobra and TOBI in Healthy Subjects
This study will investigate the bioequivalence and compare the safety profiles following inhalation of Vantobra to TOBI nebulizer solution in healthy subjects.
- Trial name
- NCT01953367
- Testing
- Vantobra (tobramycin), TOBI (tobramycin)
- Where
- Germany
- Volunteers
- 72 people, healthy volunteers welcome
- Sponsor
- Pari Pharma GmbH
Urea Cycle Disorders, Inborn
Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
The investigators will study and compare how effectively sodium phenylbutyrate, sodium benzoate, and a combination of the two, help excrete nitrogen in healthy volunteers.
- Trial name
- BPA/Benzoate (NCT02111200)
- Testing
- Sodium Benzoate, Sodium Phenylbutyrate
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Cystic Fibrosis, Bronchiectasis
Dose Escalation Study of ALX-009 in Healthy Men and Cystic Fibrosis (CF) and Non-CF Bronchiectasis Patients
This is a Phase 1, randomized, double-blind, placebo-controlled study to evaluate the safety, tolerability and pharmacokinetics of a single ascending doses (SAD) and multiple ascending doses (MAD) of Hypothiocyanite (OSCN-)…
- Trial name
- NCT02598999
- Testing
- ALX-009, OSCN-, bLF
- Where
- France
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- Alaxia SAS
Glaucoma
The Genetic Study of Primary Angle-Closure Glaucoma
The purpose of this study is to evaluate the possible candidate gene of Primary Angle-Closure Glaucoma.
- Trial name
- NCT00155857
- Where
- Taiwan
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Cognitive Impairment, Mild, Cognitive Dysfunction
MCLENA-2: A Phase II Clinical Trial for the Assessment of Lenalidomide in Patients With Mild Cognitive Impairment
This is a randomized, double-blind, placebo-controlled, parallel group study. The use of placebo is appropriate to minimize bias related to treatment expectations of the subject, study partner, and site investigator, as well as…
- Conditions
- Cognitive Impairment, Mild, Cognitive Dysfunction, Amyloid Plaque, Neurodegenerative Disease, Hereditary
- Trial name
- NCT06177028
- Testing
- Lenalidomide 10 mg
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- St. Joseph's Hospital and Medical Center, Phoenix
Leber Congenital Amaurosis (LCA)
Psychotherapy Group for Parents of Children With LCA
The objectives of this study are to evaluate the effect of a group psychotherapy intervention for parents of children/adolescents with LCA on indicators of emotional health, parental stress, acceptance, cognitive defusion, and…
- Trial name
- NCT07026565
- Testing
- Psychotherapy group for parents, Control Group
- Where
- Brazil
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Instituto de Genética Ocular
Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes
A Study to Learn More About How Much of the Study Treatment Elinzanetant (or BAY3427080) Gets Absorbed, How Safe it is and How it Affects the Body in Healthy Female and Male Participants
Researchers are looking for a better way to treat men and women with vasomotor symptoms, a condition of having hot flashes caused by hormonal changes.
- Conditions
- Vasomotor Symptoms as a Sex Hormone-dependent Disorder in Women and Men, Hot Flashes, Healthy Volunteers
- Trial name
- NCT05351892
- Testing
- Elinzanetant (BAY3427080)
- Where
- United States
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Bayer
Schizophrenia, Schizoaffective Disorder
Neural Oscillations as Genetic and Functional Biomarkers in Normal and Disease States
The principle aim of the project is to analyze brain electrical activity and genetic information that will help identify the nature and cause of the disease schizophrenia.
- Conditions
- Schizophrenia, Schizoaffective Disorder, Schizophreniform Disorder
- Trial name
- NCT01425671
- Where
- United States
- Volunteers
- 800 people, healthy volunteers welcome
- Sponsor
- University of Maryland, Baltimore
Sickle Cell Disease (SCD)
Megakaryocyte Heterogeneity in Sickle Cell Disease
Sickle cell disease (SCD) is characterized by chronic hemolytic anemia, painful crisis called vaso-occlusive crisis (VOC) and chronic inflammation.
- Trial name
- MegaDrep (NCT06850337)
- Where
- Guadeloupe
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de la Guadeloupe
Parkinson Disease, REM Sleep Behavior Disorder
Implementing a National Biobank of PD With WGS and Functional Assessment of Polygenic Inheritance by iPSC Technology
The genetic complexity and heterogeneity of the sporadic forms of Parkinson's disease (PD) are posing a formidable challenge to disentangle their direct molecular causes.
- Trial name
- NCT05721911
- Testing
- whole genome sequencing
- Where
- Italy
- Volunteers
- 230 people, healthy volunteers welcome
- Sponsor
- IRCCS San Raffaele
Huntington's Disease
Child to Adult Neurodevelopment in Gene Expanded Huntington's Disease
Huntington's Disease (HD) is an autosomal dominant disease manifested in a triad of cognitive, psychiatric, and motor signs and symptoms. HD is caused by a triplet repeat (CAG)expansion in the gene Huntingtin (HTT).
- Trial name
- ChANGE HD (NCT01860339)
- Where
- 6 sites in United States
- Volunteers
- 488 people, healthy volunteers welcome
- Sponsor
- Peggy C Nopoulos
Prader-Willi Syndrome
Stress and Brain Response Using MEG in PWS
Individuals with Prader-Willi Syndrome (PWS) have increased hunger and food seeking behaviour, as well as learning (cognitive) challenges.
- Trial name
- NCT04032639
- Where
- 2 sites in Canada
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- The Hospital for Sick Children
X-linked Adrenoleukodystrophy
Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
The purpose is to see how X-linked adrenoleukodystrophy (X-ALD) is associated with strength and sensation using MRI, in women with X-ALD.
- Trial name
- NCT01594853
- Testing
- exercise training
- Where
- United States
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Renal Impairment, Gout
Evaluation of Colchicine and Nonsteroidal Anti-inflammatory Drug Combination Therapy and Renal Function in Gout Patients
Our findings are expected to provide real-world evidence of the renal-adverse effects of colchicine and NSAIDs combination therapy in patients with gout, which will guide healthcare professions in optimizing gout treatment…
- Conditions
- Renal Impairment, Gout, Colchicine Adverse Reaction, Nonsteroidals (NSAIDs)Toxicity
- Trial name
- NCT05006001
- Testing
- Colchicine and NSAID
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- En Chu Kong Hospital
Cystic Fibrosis, Healthy Subjects
Evaluation of Nebulization and Positive Expiratory Pressure Combination
The purpose of this study is to compare the efficiency of nebulization and positive expiratory pressure combination
- Trial name
- NCT02535130
- Testing
- Positive expiratory pressure, amikacine nebulization
- Where
- Belgium
- Volunteers
- 15 people, healthy volunteers welcome
- Sponsor
- Cliniques universitaires Saint-Luc- Université Catholique de Louvain
Otitis Media
Genetics of Middle Ear Disease
The goal of this study is to identify the genes that contribute to susceptibility to recurrent/persistent middle ear disease. Five hundred families with at least 2 children who have undergone tympanostomy tube insertion will be…
- Trial name
- NCT00422136
- Where
- United States
- Volunteers
- 2,121 people, healthy volunteers welcome
- Sponsor
- University of Pittsburgh
Gout
Food Effect Study of Febuxostat XR in Healthy Participants
The purpose of this study is to assess the effect of food on the bioavailability of febuxostat after a single oral dose of 80 mg febuxostat XR and to evaluate the pharmacokinetics (PK) of febuxostat after single oral doses of 40…
- Trial name
- NCT02374164
- Testing
- Febuxostat XR
- Where
- United States
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Takeda
Congenital Diaphragmatic Hernia
Gene Mutations and Rescue in Human Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly.
- Trial name
- NCT01098929
- Where
- United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Obesity and Obesity-related Medical Conditions, Diabetes
Routine Validation and Reproducibility Testing of Laboratory Assays and Research Techniques Used for Endocrine, Cardiometabolic, and Musculoskeletal Disorder Research (VALD)
The purpose of this research study is to validate (check the accuracy of) laboratory assays, intravenous catheter insertion, and equipment or devices and their reproducibility, which is necessary to perform high quality research…
- Conditions
- Obesity and Obesity-related Medical Conditions, Diabetes, Atherosclerotic Disease, Heart Failure
- Trial name
- VALD (NCT07083557)
- Testing
- Endothelial cell collection
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Bettina Mittendorfer
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