Clinical trials: Genetic Disorder
Cystic Fibrosis (CF), Cystic Fibrosis Pulmonary Exacerbation
Understanding Inflammation, InFection and Interventions in Severe Exacerbations of Cystic Fibrosis
The UNIFIED-CF study is an observational study designed to investigate the impacts of treatment given for severe pulmonary exacerbations in people living with cystic fibrosis (pwCF).
- Trial name
- UNIFIED-CF (NCT07484607)
- Where
- 6 sites in United Kingdom
- Volunteers
- 200 people
- Sponsor
- Alexander Horsley
Pseudoxanthoma Elasticum
Oral Pyrophosphate Absorption in PXE Disease
Pyrophosphate is an endogenous, non-toxic metabolite inhibiting soft tissue calcification. The aim of our study is to find optimal dosing and safety of oral disodium-PPi (Na2H2PPi).
- Trial name
- NCT04441671
- Testing
- Disodium Pyrophosphate
- Sponsor
- Tampere University Hospital
Congenital Heart Disease, Heart Disease
The Genetic Basis of Congenital Heart Disease in Africa
Recent advances in genomic techniques are making possible a new wave of genetic discovery in congenital heart disease (CHD). Existing data suggests that CHD occur in Sub-Saharan Africa at frequencies similar to the rest of the…
- Trial name
- NCT01952171
- Where
- United States
- Volunteers
- 1,233 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Insulin Resistance, Obesity
Integrating the Genetic and Metabolic Faces of Obesity
The goal of this study is to determine why some obese individuals develop insulin resistance and others do not. We hypothesize that an impairment in differentiation of fat cells (adipocytes) is responsible for the development of…
- Conditions
- Insulin Resistance, Obesity, Metabolic Syndrome
- Trial name
- NCT00285844
- Testing
- weight loss, thiazolidinedione
- Where
- United States
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Stanford University
Myocarditis, Ventricular Arrythmia
Role of Endomyocardial Biopsy and Aetiology-based Treatment in Patients With Inflammatory Heart Disease in Arrhythmic and Non-arrhythmic Clinical Presentations: an Integrated Approach for the Optimal Diagnostic and Therapeutic Management
Myocarditis is a complex inflammatory disease, usually occurring secondary to viral infections, autoimmune processes or toxic agents.
- Conditions
- Myocarditis, Ventricular Arrythmia, Inflammatory Cardiomyopathy, Genetic Predisposition
- Trial name
- MYOCAR (NCT04521790)
- Testing
- support treatment, cardiac medical treatment, aetiology-specific treatment, device implant, arrhythmia ablation
- Where
- Italy
- Volunteers
- 1,000 people
- Sponsor
- Scientific Institute San Raffaele
Wrinkle, Lax Skin
A Prospective Controlled Study to Evaluate the Safety and Effectiveness of Thermage® FLX Radiofrequency Treatment
A prospective, 180-day, randomized, multicenter, independent blinded evaluators, controlled study of treatment with the Thermage FLX System
- Conditions
- Wrinkle, Lax Skin, Lines Skin
- Trial name
- NCT07187297
- Testing
- Thermage FLX
- Where
- 7 sites in United States
- Volunteers
- 164 people, healthy volunteers welcome
- Sponsor
- Bausch Health Americas, Inc.
Phenylketonuria (PKU)
PKU EASY Microtabs Plus - Acceptability and Tolerance
PEMP-AT is a prospective, single-arm, open-label, 1-week acceptability study to evaluate PKU EASY Microtabs Plus for the dietary management of participants with phenylketonuria (PKU).
- Trial name
- PEMP-AT (NCT06694662)
- Testing
- PKU EASY Microtabs Plus
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- Galen Limited
Gout, Chronic Kidney Diseases
CSP594 Comparative Effectiveness in Gout: Allopurinol vs. Febuxostat
This trial will compare two effective therapies, allopurinol and febuxostat, to lower serum uric acid and therefore prevent further gout attacks. These therapies have never been compared at appropriate doses.
- Trial name
- NCT02579096
- Testing
- allopurinol capsule, 100-800 mg by mouth once daily, febuxostat tablet 40-120 mg by mouth once daily
- Where
- 23 sites in United States
- Volunteers
- 950 people
- Sponsor
- VA Office of Research and Development
Multiple Sclerosis
Biomarkers in Multiple Sclerosis
This study will identify biomarkers (genes and proteins) in patients with relapsing-remitting multiple sclerosis (MS) and link them with clinical disease parameters, such as the extent of inflammation and rate of disease…
- Trial name
- NCT00325988
- Where
- United States
- Volunteers
- 858 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Gaucher Disease
Nutritional Status of Gaucher Disease Patients
This cross-sectional study aims to evaluate the nutritional status of patients with Gaucher disease attending Assiut University Children's Hospital using anthropometric measurements and body composition analysis.
- Trial name
- NCT07845188
- Volunteers
- 84 people
- Sponsor
- Assiut University
Mucopolysaccharidosis I, Lysosomal Storage Diseases
Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I
The investigators are studying the use of enzyme replacement therapy into the spinal fluid for treatment of spinal cord compression in the Hurler-Scheie and Scheie forms of mucopolysaccharidosis I (MPS I).
- Conditions
- Mucopolysaccharidosis I, Lysosomal Storage Diseases, Spinal Cord Compression
- Trial name
- NCT00215527
- Testing
- laronidase
- Where
- 2 sites in United States, Finland
- Volunteers
- 4 people
- Sponsor
- Patricia I. Dickson, M.D.
SCA, Spinocerebellar Ataxias
Expanded Access Protocol of Troriluzole in Patients With Spinocerebellar Ataxia (SCA)
The purpose of this expanded access protocol is to provide access to the investigational drug troriluzole in patients with spinocerebellar ataxia (SCA).
- Trial name
- NCT06034886
- Testing
- Troriluzole
- Sponsor
- Biohaven Pharmaceuticals, Inc.
Congenital Adrenal Hyperplasia, Classic Congenital Adrenal Hyperplasia
A Study in Pediatric Participants With Congenital Adrenal Hyperplasia (Balance-CAH)
The purpose of this study is to evaluate the safety, efficacy, pharmacokinetics (PK), and pharmacodynamics (PD) of atumelnant treatment in pediatric participants with classic congenital adrenal hyperplasia (CAH).
- Trial name
- NCT07159841
- Testing
- Atumelnant
- Where
- 51 sites in United States, Argentina and 11 more
- Volunteers
- 153 people
- Sponsor
- Crinetics Pharmaceuticals Inc.
Neurofibromatosis Type 1, Tibial Dysplasia
Neurofibromatosis Type 1 (NF1) and Tibial Dysplasia
The study is a multicenter four-year outcome study of the natural history of tibial dysplasia in patients with NF1 and selected patients without NF1.
- Trial name
- NF1TD (NCT00303368)
- Where
- United States
- Volunteers
- 395 people
- Sponsor
- Shriners Hospitals for Children
Autoimmune Uveitis, Behçet Disease
Pilot Project: The Amplicon and Metatranscriptomic Study of Intra and Extra Intestinal Microbiome in Non-infectious Uveitis Disease
This study aimed to discover the composition on the microbiome in several sites of the human body; and to find out the difference in microbiome composition on ocular fluid, blood, and feces before and after therapy in uveitis…
- Conditions
- Autoimmune Uveitis, Behçet Disease, Vogt-Koyanagi-Harada Disease, Idiopathic Uveitis
- Trial name
- NCT04126850
- Where
- Indonesia
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Fakultas Kedokteran Universitas Indonesia
Ewing Sarcoma, PEComa
Nivolumab (Opdivo®) Plus ABI-009 (Nab-rapamycin) for Advanced Sarcoma and Certain Cancers
This study investigates the safety/toxicity and potential anti-tumor activity of sequential administration of nivolumab and escalating doses of the mammalian target of rapamycin (mTOR) inhibitor nab-rapamycin (ABI-009) in…
- Conditions
- Ewing Sarcoma, PEComa, Epithelioid Sarcoma, Desmoid Tumor
- Trial name
- NCT03190174
- Testing
- Nab-Rapamycin, Nivolumab
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- Sarcoma Oncology Research Center, LLC
Atopic Dermatitis
Evaluate the Efficacy and Safety of Topical SHR0302 Ointment in Patients With Mild-to-Moderate Atopic Dermatitis
This is a Randomized, Double-blind, Vehicle-Controlled, Seamless and Adaptive-designed Phase II/III Study to Evaluate the Efficacy and Safety of Topical SHR0302 Ointment in Adult Patients with Mild-to-Moderate Atopic Dermatitis.
- Trial name
- MARBLE-23 (NCT04717310)
- Testing
- SHR0302 Ointment, Vehicle
- Where
- 31 sites in China
- Volunteers
- 645 people
- Sponsor
- Reistone Biopharma Company Limited
Breast Cancer
Comprehensive Screening for Women at High Genetic Risk for Developing Breast Cancer
To screen women who are high risk for breast cancer with breast MRI, mammogram and random periareolar fine needle aspiration.
- Trial name
- NCT00255060
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Stanford University
Pregnant Women Requiring Amniocentesis
Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Losses of imprinting are involved in various syndromes. Those occurring in the 11p15 region lead to Beckwith-Wiedemann and Silver-Russell Syndromes.
- Trial name
- DASIRUWIBE (NCT01842659)
- Testing
- Methylation Index
- Where
- France
- Volunteers
- 67 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Friedreich Ataxia
Efficacy, Tolerability, and Pharmacokinetics of Multiple Doses of Oral TAK-831 in Adults With Friedreich Ataxia
The purpose of this study is to evaluate the efficacy of TAK-831 versus placebo on upper extremity (arm and hands) motor function and manual dexterity.
- Trial name
- NCT03214588
- Testing
- TAK-831
- Where
- 6 sites in United States
- Volunteers
- 67 people
- Sponsor
- Neurocrine Biosciences