Clinical trials: Genetic Conditions
Renal Calculi
Evaluation of Prevalence, Molecular and Genetic Backgrounds of Calcium-Based Stones Among Patients With Renal Calcular Disease in Mansoura Urology and Nephrology Center
Evaluation of Prevalence, Molecular and Genetic Backgrounds of Calcium-Based stones among Patients with Renal Calcular Disease in Mansoura Urology and Nephrology Center
- Trial name
- NCT05972408
- Testing
- percutaneous nephrlolithotomy, VDR gene, CASR gene
- Where
- Egypt
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Down Syndrome, Speech and Language Disorder
Building Sentences With Preschoolers Who Use AAC
The focus of this investigation is to compare the effectiveness of the AAC Generative Language Intervention approach to an AAC Standard of Care condition on preschool sentence productions.
- Conditions
- Down Syndrome, Speech and Language Disorder, Speech Disorders in Children, Speech Intelligibility
- Trial name
- NCT03538925
- Testing
- AAC Generative Language Intervention, Standard of Care / Business as Usual
- Where
- 2 sites in United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Central Florida
Tourette Syndrome
Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder
OBJECTIVES: I. Evaluate the safety and efficacy of the alpha-2 adrenergic agonist guanfacine in children and adolescents with Tourette syndrome or other chronic tic disorder, and attention deficit hyperactivity disorder.
- Trial name
- NCT00004376
- Testing
- guanfacine
- Volunteers
- 35 people
- Sponsor
- National Center for Research Resources (NCRR)
Type 1 Diabetes Mellitus, Genetic Predisposition to Disease
Mechanisms of Type 1 Diabetes Endophenotypes
The goal of this observational study consists of performing cluster analysis to decipher underlying disease mechanisms of type 1 diabetes in children and young adults.
- Trial name
- METYDIA (NCT05764850)
- Testing
- Genome sequencing
- Where
- Switzerland
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- Pediatric Clinical Research Platform
Usher Syndromes
Natural History Study of Usher Syndrome ( Light4Deaf )
Clinical centres in the LIGHT4DEAF consortium have developed and will continue to improve a reliable, early molecular diagnosis and protocols for full clinical characterisation of Usher syndrome, which will be valuable for the…
- Trial name
- Light4Deaf (NCT04665726)
- Where
- 4 sites in France
- Volunteers
- 400 people
- Sponsor
- Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts
Haemophilia
National Survey of People With Haemophilia in Portugal
The purpose of this study is to implement a national survey to collect information regarding Portuguese people with haemophilia (PWH) on socio-demographic, clinical and psychosocial factors.
- Trial name
- NCT02870114
- Where
- Portugal
- Volunteers
- 146 people
- Sponsor
- University of Minho
Cardiovascular Diseases, Heart Diseases
Long QT Syndrome-Population Genetics and Cardiac Studies
To investigate the clinical, genetic and cardiologic aspects of the Long QT Syndrome, a predominantly hereditary disease with episodic malignant arrhythmias and sudden death, and a demonstrated gene linkage in a large pedigree.
- Conditions
- Cardiovascular Diseases, Heart Diseases, Ventricular Arrhythmia, Long QT Syndrome
- Trial name
- LQTS (NCT00005176)
- Where
- United States
- Volunteers
- 2,125 people
- Sponsor
- University of Rochester
Fabry Disease
Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy
In patients with Fabry disease, this research study explores the presence of podocytes in their urine as a potential non-invasive biomarker for baseline kidney disease; and explores changes in the quantity of podocytes in their…
- Trial name
- NCT02994303
- Where
- 3 sites in United States
- Volunteers
- 58 people
- Sponsor
- University of Washington
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 35 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
- NCT03862950
- Testing
- Metformin
- Where
- 2 sites in Canada
- Volunteers
- 125 people
- Sponsor
- University of Alberta
Cystic Fibrosis
Inflammatory Markers in Broncho-alveolar Lavage Fluid as Risk Factors for Lung Disease in Infants With Cystic Fibrosis: the I-BALL Study
Airway disease, featuring intense inflammation, is the main cause of morbidity and mortality in cystic fibrosis (CF). Mechanisms of CF airway inflammation remain unclear, hampering development of better treatments.This…
- Trial name
- I-BALL (NCT02907788)
- Where
- Netherlands
- Volunteers
- 51 people
- Sponsor
- Erasmus Medical Center
Urea Cycle Disorder
A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders
This is an open-label study consisting of a transition period to RAVICTI, followed by a safety extension period for at least 6 months and up to 24 months of treatment with RAVICTI, depending on age at enrollment.
- Trial name
- NCT02246218
- Testing
- RAVICTI
- Where
- 17 sites in United States, Canada
- Volunteers
- 27 people
- Sponsor
- Amgen
Dysarthria, Down Syndrome
Intensive Dysarthria Sessions in Adults and Children With Down Syndrome
This research study is designed to investigate the feasibility and treatment effects of a behavioral speech treatment in adults and children with Down Syndrome (DS) and dysarthria.
- Trial name
- NCT01684670
- Testing
- Speech sessions
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University
Lead Poisoning
Exposure, Dose, Body Burden and Health Effects of Lead
This is a study of the effects that lead has on the health of the central nervous system (for example, memory), peripheral nervous system (for example, sensation and strength in the hands and fingers), kidneys, blood pressure…
- Trial name
- NCT00013819
- Volunteers
- 944 people, healthy volunteers welcome
- Sponsor
- National Institute of Environmental Health Sciences (NIEHS)
Prostatitis, Cystitis, Interstitial
Linkage Analysis in Interstitial Cystitis
Urologic pelvic pain syndrome (UCPPS), variably termed painful bladder syndrome/interstitial cystitis (PBS/IC) in females and chronic prostatitis/chronic pelvic pain syndrome in men (CP/CPPS), is a chronic, debilitating clinical…
- Conditions
- Prostatitis, Cystitis, Interstitial, Urinary Bladder, Overactive, Chronic Pelvic Pain Syndrome
- Trial name
- IC (NCT00675298)
- Where
- United States
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- Beth Israel Deaconess Medical Center
Genetic Diseases, Inborn, Genetic Predisposition to Disease
NYCKidSeq: Incorporating Genomics Into Clinical Care of Diverse NYC Children
The NYCKidSeq program will significantly advance the implementation of genomic medicine, particularly for children, young adults and their families in Harlem and the Bronx.
- Trial name
- NCT03738098
- Testing
- Standard of Care, GUÍA
- Where
- 2 sites in United States
- Volunteers
- 650 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Cystic Fibrosis
Nasal Potential Difference (NPD) for the Diagnosis of Cystic Fibrosis
The purpose of this research study is to provide a novel method for the diagnosis of Cystic Fibrosis (CF). This protocol is designed to test the ability of the cells to regulate the movement of salt and water in people with…
- Trial name
- NCT00589745
- Testing
- Nasal potential difference measurement
- Where
- United States
- Volunteers
- 27 people
- Sponsor
- Children's Hospital of Philadelphia
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
Intellectual Disability, Multiple Congenital Anomaly
Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China
To assess the indications and diagnostic efficiency of whole genome sequencing (WGS) in pediatric patients with unexplained intellectual disability/developmental delay, multiple congenital abnormalities and other rare and…
- Conditions
- Intellectual Disability, Multiple Congenital Anomaly, Rare Diseases
- Trial name
- NCT03424772
- Testing
- Whole genome sequencing
- Where
- 14 sites in China
- Volunteers
- 100 people
- Sponsor
- Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Pyruvate Dehydrogenase Complex Deficiency Disease
Efficacy and Safety of the Treatment of Pyruvate Dehydrogenase Deficiency Patients With Glycerol Phenylbutyrate (RAVICTI)
This is a phase II, multicenter, prospective, non-comparative clinical trial to assess the efficacy and safety of the treatment of pyruvate dehydrogenase deficiency (PDH) patients with glycerol phenylbutyrate (Ravicti®).
- Trial name
- PDH-RAVICTI (NCT06887777)
- Testing
- Glycerol Phenylbutyrate 1100 MG/ML [Ravicti]
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Infantile Spinal Muscular Atrophy
Test of Aquatic Mobility of SMA Infants
Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease impacting spinal cord motor neurons, leading to motor and respiratory issues and, ultimately, death.
- Trial name
- BAINSMA (NCT06152302)
- Testing
- Mobility study in dry conditions, Mobility study in water conditions
- Where
- France
- Volunteers
- 15 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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