Clinical trials: Inherited Genetic Conditions
Epilepsy, Dravet Syndrome
Turmeric as Treatment in Epilepsy
This is a single center open-label pilot clinical trial of patients 1-70 years of age with greater than 6 seizures per month diagnosed with Dravet Syndrome, Lennox-Gastaut Syndrome, Tuberous Sclerosis, or focal seizures.
- Conditions
- Epilepsy, Dravet Syndrome, Lennox-Gastaut Syndrome, Tuberous Sclerosis
- Trial name
- NCT03254680
- Testing
- Turmeric
- Where
- United States
- Sponsor
- NYU Langone Health
Chronic Granulomatous Disease (CGD)
Prevalence of Antibodies and Cytokines in Participants With Chronic Granulomatous Disease
This research study is designed to assess the prevalence of specific antibodies and inflammatory cytokines in adult and pediatric participants with CGD.
- Trial name
- NCT06605378
- Where
- 52 sites in United States, United Kingdom
- Volunteers
- 60 people
- Sponsor
- Ensoma
Atopic Dermatitis
A Pilot Study of Lactofiltrum to Treat Atopic Dermatitis in Adults
The purpose is to study efficacy of Lactofiltrum in adult patients with atopic dermatitis. Lactofiltrum consists of 85% of hidrolytic lignin and 15% of lactulose and acts as an enterosorbent, which enables to enhance metabolism…
- Trial name
- LF-AD-09 (NCT01124318)
- Testing
- Lactofiltrum
- Where
- 2 sites in Russia
- Volunteers
- 90 people
- Sponsor
- Avva Rus, JSC
Vasculitis, Systemic Vasculitis
Journey of Patients With Vasculitis From First Symptom to Diagnosis
This study seeks to understand the journey that patients eventually are diagnosed with vasculitis experience in the period prior to their formal diagnosis by a healthcare provider.
- Conditions
- Vasculitis, Systemic Vasculitis, Behcet's Disease, CNS Vasculitis
- Trial name
- NCT03410290
- Testing
- Online Questionnaire
- Where
- United States
- Volunteers
- 456 people
- Sponsor
- University of Pennsylvania
Liver Fibrosis
Non-invasive Assessment of Liver Fibrosis in a French Cohort of Pediatric Patients With Type III Glycogen Storage Disease: Current State and Perspectives
Patients with type III glycogen storage disease (GSDIII) can develop liver fibrosis, which can be complicated by liver failure or even hepatocellular carcinoma.
- Trial name
- HEPAGLY (NCT07303140)
- Where
- France
- Volunteers
- 30 people
- Sponsor
- University Hospital, Strasbourg, France
Cardiac Amyloidosis, Chest Pain
CHEST-CA: Study of Chest Pain and Hidden Cardiac Amyloidosis
The objective of this observational, prospective study is to determine the prevalence of Cardiac Amyloidosis (CA) in males over the age of 65 who experience chest pain but show no signs of coronary artery disease (CAD).
- Trial name
- CHEST-CA (NCT07435168)
- Testing
- Screening thourgh examinations including bonescintigraphy
- Where
- Denmark
- Volunteers
- 300 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Asthma, Pulmonary Fibrosis
Segmental Bronchoalveolar Lavage
Bronchoalveolar lavage (BAL) is a diagnostic and therapeutic procedure conducted by placing a small fiberoptic scope into the lung of a patient, and injecting sterile water (saline) into the lung and removing the fluid.
- Trial name
- NCT00001618
- Where
- United States
- Volunteers
- 153 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Tourette's Syndrome, Attention Deficit Hyperactivity Disorder
Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD
In the present study, we examine the question "Will day-time aggression in children improve when their night-time sleep is treated with pharmacological intervention (i.e.
- Trial name
- NCT00152750
- Testing
- APO-clonidine
- Where
- Canada
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- University Health Network, Toronto
Ataxia Telangiectasia, Growth Failure
Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT)
This study will evaluate the status of the growth hormone/ insulin-like growth factor-1 (GH/IGF-1) axis in relation to growth failure, body weight and composition and neuroprotection in children with Ataxia telangiectasia (AT).
- Trial name
- GHAT (NCT01052623)
- Testing
- Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
- Where
- Germany
- Volunteers
- 24 people
- Sponsor
- Johann Wolfgang Goethe University Hospital
Lymphocytic Leukemia, Chronic, Lymphoma, Small Lymphocytic
Duvelisib With Obinutuzumab in Patients With CLL/SLL Previously Treated With a BTKi (SYNCHRONY)
To evaluate the safety, pharmacokinetics, and pharmacodynamics of Duvelisib (IPI-145) in combination with obinutuzumab in patients with Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma previously treated with a BTKi.
- Trial name
- NCT02292225
- Testing
- IPI-145 (duvelisib), Obinutuzumab
- Where
- 7 sites in United States, Canada
- Volunteers
- 3 people
- Sponsor
- SecuraBio
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.
Stroke, Ischemic, Stroke Hemorrhagic
Exploring Accessible Beauty for Individuals With Upper Extremity Deficits
The purpose of this study is to investigate the accessibility of beauty products for individuals with upper extremity disabilities.
- Conditions
- Stroke, Ischemic, Stroke Hemorrhagic, Stroke (CVA) or TIA, Stroke, Acute
- Trial name
- NCT05945784
- Testing
- Use of Rare Beauty makeup products
- Where
- United States
- Volunteers
- 57 people, healthy volunteers welcome
- Sponsor
- Casa Colina Hospital and Centers for Healthcare
Tyrosinemia I
Study of NTBC for Tyrosinemia I
OBJECTIVES: I. Assess the safety and efficacy of NTBC in children with tyrosinemia I. II. Evaluate the effects of NTBC on survival, rate of neurologic crises, improvement in renal tubular damage, reduction in the need for liver…
- Trial name
- NCT00004443
- Testing
- NTBC
- Where
- 3 sites in United States, Canada
- Volunteers
- 20 people
- Sponsor
- University of Washington
Fed
Galantamine Bioequivalence Study of Dr. Reddy's Under Fed Condition
Galantamine Hydrobromide Tablets, Bioequivalence study of Dr. Reddy's under Fed condition.
- Trial name
- NCT01372306
- Testing
- Reminyl
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Oculopharyngeal Muscular Dystrophy
Screening in Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathic disease that results in progressive degeneration of the oral and pharyngeal muscular, resulting in severe dysphagia and dysarthria.
- Trial name
- NCT02877784
- Testing
- Videofluoroscopic swallowing study, Functional Oral Intake Scale, Eating Assessment Tool-10
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- University of Florida
Fabry Disease
A Study to Evaluate Migalastat in Fabry Subjects With Amenable GLA Variant and Renal Disease
An Open-label Study to Evaluate the Safety and Pharmacokinetics of Migalastat HCl in Subjects with Fabry Disease and Amenable GLA Variants and Severe Renal Impairment (SRI) or End Stage Renal Disease (ESRD)
- Trial name
- NCT04020055
- Testing
- migalastat HCl 150 mg
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 14 people
- Sponsor
- Amicus Therapeutics
Genetic Predisposition
Next Generation to Identify Genetic Causes of Disease in Patients Participating in NICHD Clinical Protocols
Background: The purpose of this study is to identify changes in genes that cause human diseases. We would like to obtain some of you or your child s DNA and test for changes in genes that may contribute to a disease in you or…
- Trial name
- NCT01375543
- Where
- United States
- Volunteers
- 128 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Hemophilia A With Inhibitor, Hemophilia A Without Inhibitor
Pharmacokinetic-guided Dosing of Emicizumab
The goal of this multicentre, prospective, open-label, cross-over clinical study is to determine whether individualized PK-guided dosing of emicizumab is non-inferior to conventional dosing of emicizumab in the prevention of…
- Conditions
- Hemophilia A With Inhibitor, Hemophilia A Without Inhibitor, Hemophilia A, Severe, Adolescent
- Trial name
- DosEmi (NCT06320626)
- Testing
- Emicizumab - PK-guided dose reduction, Emicizumab - Dosis continuation group, Emicizumab - Dose adjustment group
- Where
- 8 sites in Netherlands
- Volunteers
- 95 people
- Sponsor
- Kathelijn Fischer
Parkinson's Disease, Tourette's Syndrome
Physiological Investigations of Movement Disorders
Background: Previous studies have given researchers information on how the brain controls movement, how people learn to make fine, skilled movements, and why some people have movement disorders.
- Conditions
- Parkinson's Disease, Tourette's Syndrome, Tic Disorders, Dystonia
- Trial name
- NCT01019343
- Testing
- Transcranial Direct Current Stimulation (tDCS), Eye-tracking Device, Pulsed vibrator
- Where
- United States
- Volunteers
- 1,273 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Recurrent Colon Cancer, Extensive Stage Small Cell Lung Cancer
Vaccine Therapy in Treating Patients With Colon, Pancreatic, or Lung Cancer
RATIONALE: Vaccines made from mutated ras peptides may make the body build an immune response to and kill tumor cells. PURPOSE: Phase I trial to study the effectiveness of a vaccine containing mutated ras peptides and an immune…
- Conditions
- Recurrent Colon Cancer, Extensive Stage Small Cell Lung Cancer, Stage III Pancreatic Cancer, Stage III Rectal Cancer
- Trial name
- NCT00019006
- Testing
- Detox-B adjuvant, ras peptide cancer vaccine
- Where
- United States
- Sponsor
- National Cancer Institute (NCI)