Clinical trials: Inherited Genetic Conditions (Diagnosis)
Rett Syndrome
A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome
This study will evaluate the efficacy and safety profiles of the investigational gene therapy, NGN-401, in females with typical Rett syndrome.
- Trial name
- NCT05898620
- Testing
- NGN-401
- Where
- 16 sites in United States, Australia and 1 more
- Volunteers
- 33 people
- Sponsor
- Neurogene Inc.
Retinitis Pigmentosa, Usher Syndrome Type 2
Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
This clinical trial is a single-site, 30 patient study for participants who have early stage retinitis pigmentosa, or Usher syndrome (type 2 or 3). Funding Source - FDA OOPD and Foundation Fighting Blindness.
- Conditions
- Retinitis Pigmentosa, Usher Syndrome Type 2, Usher Syndrome Type 3
- Trial name
- NCT01530659
- Testing
- NT-501
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Neurotech Pharmaceuticals
Muscle Weakness
Effect of PROGRESSive Training and Teststerone in Older Frail Men
In this scientific clinical investigation we will test whether testosterone and progressive resistance training can improve muscle strength and reduce the risk of falls in older men.
- Trial name
- PROGRESS (NCT02873559)
- Testing
- testosterone, Progressive muscle training
- Where
- 2 sites in Denmark
- Volunteers
- 192 people, healthy volunteers welcome
- Sponsor
- University Hospital, Gentofte, Copenhagen
Prader Willi Syndrome, Obesity
Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a genetic disorder characterized by childhood-onset obesity and endocrine dysfunction that leads to cardiovascular disability and early death within the first 3 decades of life.To assess the…
- Trial name
- NCT00474643
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Samsung Medical Center
MPS II, Hunter Syndrome (MPS II)
An Extension Study to Assess the Long-term Safety and Efficacy of Hunterase (Idursulfase Beta)
The objective of this study is to assess the long-term safety and efficacy of Hunterase for approximately 1 year in subjects who completed the end of study (EOS) visit (Visit 54) tests in the Phase 3 Hunterase study and patients…
- Conditions
- MPS II, Hunter Syndrome (MPS II), Hunter Syndrome, Hunterase
- Trial name
- NCT07344376
- Testing
- Hunterase
- Where
- South Korea
- Volunteers
- 30 people
- Sponsor
- GC Biopharma Corp
Hyperhomocysteinemia, Obesity
Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children
The purpose of the present study was to determine whether folic acid supplementation could reduce plasma homocysteine in obese children and to determine the association between dietary folate, serum folate and homocysteine level…
- Trial name
- NCT01766310
- Testing
- Folic Acid
- Where
- 2 sites in Thailand
- Volunteers
- 50 people
- Sponsor
- Queen Sirikit National Institute of Child Health
Hereditary Emphysema (Alpha 1-antitrypsin Deficiency)
Endoscopic Lung Volume Reduction in Patients With Advanced Emphysema Due to alpha1 Antitrypsin Deficiency
Patients with advanced heterogeneous emphysema due to alpha1 antitrypsin deficiency might benefit from endoscopic implantation of intrabronchial valves.
- Trial name
- NCT01357460
- Testing
- Implantation of intrabronchial valves (IBV) (Spiration IBV)
- Where
- Germany
- Volunteers
- 18 people
- Sponsor
- Heidelberg University
Confirmed Diagnosis of Cystic Fibrosis
Impact of Early Lung Physiology, Viral Infections and the Microbiota on the Development and Progression of Lung Disease in Children With Cystic Fibrosis
This study collects data on microbiological factors and lung function parameters (e.g. spirometry, body plethysmography, lung-MRI) to assess their interaction on the lung growth and lung development of infants and children with…
- Trial name
- SCILD (NCT04026360)
- Testing
- no intervention
- Where
- Switzerland
- Volunteers
- 500 people
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Neurodegenerative Disease, Weight Loss
Electronic-health Application To Measure Outcomes REmotely Clinical Trial
This is a phase II feasibility, safety, tolerability and preliminary efficacy study of an e-Health application versus in-person nutritional counseling to maintain or increase weight in patients with neurodegenerative diseases…
- Conditions
- Neurodegenerative Disease, Weight Loss, Amyotrophic Lateral Sclerosis, Parkinson's Disease
- Trial name
- EAT MORE (NCT02418546)
- Testing
- In-Person Nutritional Counseling by a Registered Dietitian, Nutritional counseling using an e-Health Application
- Where
- United States
- Volunteers
- 78 people
- Sponsor
- Massachusetts General Hospital
Left Bundle-Branch Block, Heart Failure
Absolute Coronary Flow in Patients With Heart Failure With Reduced Ejection Fraction and Left Bundle Branch Block With Cardiac Resynchronization Therapy
Cardiac resynchronization therapy (CRT) is an effective therapeutic strategy in patients with symptomatic heart failure (HF) patients with LVEF of ≤35% and left bundle branch block (LBBB).
- Conditions
- Left Bundle-Branch Block, Heart Failure, Cardiac Resynchronization Therapy, Dilated Cardiomyopathy
- Trial name
- FLOW-LBBB (NCT05564689)
- Testing
- Intracoronary flow and pressure
- Where
- Denmark
- Volunteers
- 60 people
- Sponsor
- Ashkan Eftekhari
Genetic Disease, Pectus Excavatum
Young Pectus Excavatum Patients and Genetic Defects
In most pectus excavatum (PE) patients an underlying genetic defect is not found with molecular analysis, as a direct genetic link with PE has yet to be found and because potential underlying genetic disorders are quite rare.
- Conditions
- Genetic Disease, Pectus Excavatum, Children, Adult
- Trial name
- NCT05443113
- Testing
- Genetic analysis
- Where
- Netherlands
- Volunteers
- 18 people
- Sponsor
- Erasmus Medical Center
Chronic Granulomatous Diseases (CGD) and Liver Lesions
Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous Disease
Background: Abscesses are a pocket of infection in an organ or tissue. Patients with a disease called chronic granulomatous disease (CGD) often develop these abscesses.
- Trial name
- NCT01851460
- Testing
- Cool-tip RF Ablation System
- Where
- United States
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Overactive Bladder
ADRB3, ROCK2 and GEF Levels in Overactive Bladder Patients
Aims: To evaluate changes in levels of ADRB3, ROCK2, and GEF which have key roles in the adrenergic and cholinergic pathways of contraction-relaxation harmony in voiding physiology, and to investigate the diagnostic potential of…
- Trial name
- NCT04626960
- Where
- Turkey (Türkiye)
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Pamukkale University
Fetal Growth Retardation
Study to Examine Insulin Resistance During Growth Hormone Treatment for Short Stature Due to Low Birthweight
Insulin resistance is common among children with low birthweight. Moreover, growth hormone treatment for ensuing short stature also causes insulin resistance. Our objective is to examine these processes.
- Trial name
- NCT00120497
- Testing
- somatropin (rDNA)
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Massachusetts General Hospital
Age Related Macular Degeneration, Retinitis Pigmentosa
Visual Activity Evoked by Infrared in Humans After Dark Adaptation
This pilot study will evaluate the visual response to infrared (IR) in humans after dark adaptation. The investigators plan to determine which wavelength and intensity the human eye is most sensitive to in healthy and color-blind…
- Conditions
- Age Related Macular Degeneration, Retinitis Pigmentosa, Congenital Stationary Night Blindness, Colorblindness
- Trial name
- NCT02909985
- Testing
- Tungsten halogen light with narrow bandpass filters
- Where
- United States
- Volunteers
- 21 people, healthy volunteers welcome
- Sponsor
- University of New Mexico
Cryopyrin-associated Periodic Syndromes, Familial Cold Autoinflammatory Syndrome
Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase
To date there are no approved effective therapies for the treatment of cryopyrin-associated periodic syndromes (CAPS) including Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS), or Neonatal Onset…
- Conditions
- Cryopyrin-associated Periodic Syndromes, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, Neonatal Onset Multisystem Inflammatory Disease
- Trial name
- NCT00991146
- Testing
- canakinumab
- Where
- 3 sites in Japan
- Volunteers
- 19 people
- Sponsor
- Novartis Pharmaceuticals
Cerebrotendinous Xanthomatosis
Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis
OBJECTIVES: I. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of individual sterols and bile acids in patients with cerebrotendinous xanthomatosis before and after a cholesterol- and…
- Trial name
- NCT00004346
- Testing
- chenodeoxycholic acid, lovastatin
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Center for Research Resources (NCRR)
Chronic Granulomatous Disease
Lentiviral Gene Therapy for CGD
This is a Phase I/II clinical trial of gene therapy for treating Chronic Granulomatous Disease using a high-safety, high-efficiency, self-inactivating lentiviral vector TYF to functionally correct the defective gene.
- Trial name
- NCT03645486
- Testing
- Infusion of lentiviral TYF-CGD-modified autologous stem cells
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Arthritis, Gouty
Efficacy and Safety of a Single Dose of Canakinumab (ACZ885) in Hospitalized Patients With Acute Gout
This is an exploratory proof-of-concept study to evaluate the safety and efficacy of canakinumab (ACZ885) for inflammation and pain associated with acute gouty arthritis.
- Trial name
- NCT00663169
- Testing
- canakinumab, dexamethasone
- Where
- 4 sites in United States, Switzerland and 1 more
- Volunteers
- 6 people
- Sponsor
- Novartis
Spinocerebellar Ataxia
Functional and Structural Imaging and Motor Control in Spinocerebellar Ataxia
The purpose of this research study is to investigate how the brain and motor behavior changes both in individuals with spinocerebellar ataxia and healthy individuals, and to assess whether a therapeutic intervention reduces…
- Trial name
- SCA (NCT02488031)
- Testing
- Error-reduction, International Cooperative Ataxia Rating Scale, Scale for the Assessment and Rating of Ataxia
- Where
- United States
- Volunteers
- 19 people
- Sponsor
- University of Florida
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