Clinical trials: Genetic Testing
Cystic Fibrosis
Study to Evaluate the Safety and Efficacy of Ciprofloxacin (Inhaled) in Patients With Cystic Fibrosis
To evaluate the change in forced expiratory volume (FEV1) from baseline to Day 28-30 between Cipro Inhale-treated and placebo-treated subjects after a 4-week treatment period.
- Trial name
- NCT00645788
- Testing
- Ciprofloxacin (Cipro Inhale, BAYQ3939)
- Where
- 86 sites in United States, Australia and 7 more
- Volunteers
- 288 people
- Sponsor
- Bayer
Down Syndrome
Efficacy Assessment of Systematic Treatment With Folinic Acid and Thyroid Hormone on Psychomotor Development of Down Syndrome Young Children
Evaluation of the following in very young children with Down syndrome: the efficacy of systematic treatment with L-thyroxine at controlled doses (clinically and by ultrasensitive thyreostimulating hormone (TSH) assay), the…
- Trial name
- ACTHYF (NCT01576705)
- Testing
- thyroid hormone and folinic acid
- Where
- France
- Volunteers
- 175 people
- Sponsor
- Institut Jerome Lejeune
Cystic Fibrosis
Pilot Study Testing the Effect of Ivacaftor on Lung Function in Subjects With Cystic Fibrosis and Residual CFTR Function
This study is a multiple within participant crossover study to evaluate the effect of ivacaftor on lung function in participants aged 12 years and older with cystic fibrosis (CF) who have phenotypic or molecular evidence of…
- Trial name
- NCT01685801
- Testing
- Ivacaftor
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
A 4-week Study to Test Different Doses of BI 1265162 in Adolescents and Adults With Cystic Fibrosis Using the Respimat® Inhaler - BALANCE - CF™1
The primary objective of this trial is to assess the efficacy, safety and pharmacokinetics of twice daily inhaled doses of BI 1265162 delivered by Respimat® inhaler versus placebo in adolescents and adult patients with cystic…
- Trial name
- NCT04059094
- Testing
- BI 1265162
- Where
- 26 sites in United States, Belgium and 6 more
- Volunteers
- 52 people
- Sponsor
- Boehringer Ingelheim
Genetic Disease, Cancer
Educational Video for Genetic Testing
Develop and evaluate the acceptability, feasibility, and preliminary efficacy of an informational video on paired tumor/normal testing for children and adolescents with a new diagnosis of cancer, tumors or other diagnosis.
- Trial name
- NCT05472714
- Testing
- Educational Video
- Where
- United States
- Volunteers
- 359 people
- Sponsor
- Children's Hospital of Philadelphia
Eczema
Test to Determine the Effectiveness of Moisturizing Balm Used on Babies With Dry, Itchy Skin
The purpose of this 3 week study is to test the effectiveness of an over-the-counter (OTC) skin balm in infants and toddlers with mild to moderate dry, itchy skin.
- Trial name
- NCT02404493
- Testing
- EpiCeram Skin Barrier Emulsion, 1% Colloidal Oatmeal Balm
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Johnson & Johnson Consumer Inc. (J&JCI)
Cystic Fibrosis
Impact of Discontinuing Chronic Therapies in People With Cystic Fibrosis on Highly Effective CFTR Modulator Therapy
Despite the increasingly common use of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies in treating CF, it is still largely unknown whether or not other chronic therapies can be safely stopped.
- Trial name
- SIMPLIFY (NCT04378153)
- Where
- 80 sites in United States
- Volunteers
- 987 people
- Sponsor
- Nicole Hamblett
Mucopolysaccharidosis IVA, Morquio A Syndrome
Safety and Exercise Study of Two Doses of BMN 110 for Morquio A Syndrome
The primary objective of this study was to evaluate the safety of a 2.0 mg/kg/week and a 4.0 mg/kg/week of BMN 110 in patients with Morquio A syndrome for up to 196 weeks.
- Conditions
- Mucopolysaccharidosis IVA, Morquio A Syndrome, MPS IVA
- Trial name
- NCT01609062
- Testing
- BMN 110
- Where
- 11 sites in United States, Canada and 2 more
- Volunteers
- 25 people
- Sponsor
- BioMarin Pharmaceutical
Human Leukocyte Antigens (HLA)
Clinical Protocol SeCore, uTYPE and 3500 Dx System
The purpose of this study is to compare the Invitrogen SeCore(R) sequencing system and uTYPE(R) interpretation software to the predicate device Invitrogen SSP UniTray(R) with UniMatch(R) interpretation software and show 95%…
- Trial name
- NCT01285427
- Volunteers
- 300 people
- Sponsor
- Life Technologies Corporation
Cystic Fibrosis
Impact of Discontinuing Hypertonic Saline in People With CF on Highly Effective CFTR Modulators- A SIMPLIFY Sub-Study
Despite the increasingly common use of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies in treating cystic fibrosis (CF), it is still largely unknown whether or not other chronic therapies can be…
- Trial name
- SIMPLIFY-HS (NCT06350461)
- Testing
- Discontinuation of hypertonic saline (HS), Continuation of hypertonic saline (HS)
- Where
- 81 sites in United States
- Volunteers
- 370 people
- Sponsor
- Nicole Hamblett
Primary Ciliary Dyskinesia
Otolith Function in Patients With Primary Ciliary Dyskinesia
The purpose of this study is to determine whether patients with primary ciliary dyskinesia (PCD) have reduced or absent otolith function.The otolith system is a specific part of the inner ear vestibular (balance) system that…
- Trial name
- NCT01246258
- Testing
- Vestibular evoked myogenic potentials (VEMPs), Utricular centrifugation test
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Imperial College Healthcare NHS Trust
Down Syndrome
An Online Health Tool About Down Syndrome: Down Syndrome Clinic to You
The investigators conducted a national two-arm, randomized controlled trial of caregivers of individuals with DS to assess the efficacy of DSC2U in assuring adherence to evidence-based guidelines.
- Trial name
- DSC2U (NCT04227197)
- Testing
- Down Syndrome Clinic to You (DSC2U)
- Where
- United States
- Volunteers
- 281 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Sickle Cell Disease, Sickle Cell Trait
Evaluation of Low-cost Techniques for Detecting Sickle Cell Disease and β-thalassemia in Nepal and Canada
Sickle cell disease (SCD) is an inherited blood disorder associated with acute illness and organ damage. In high resource settings, early screening and treatment greatly improve quality of life.
- Conditions
- Sickle Cell Disease, Sickle Cell Trait, Beta-Thalassemia, Sickle Cell-Beta Thalassemia
- Trial name
- NCT05506358
- Testing
- High performance liquid chromatography, Automated sickling test, HbS solubility test
- Where
- 3 sites in Canada, Nepal
- Volunteers
- 145 people, healthy volunteers welcome
- Sponsor
- University of British Columbia
Kidney Failure, Chronic, Growth Hormone Deficiency
A Study to Optimize Growth Hormone Dosing in Children With Chronic Kidney Disease by Measuring IGF-1 Levels in Blood
Treatment with growth hormone (GH; a hormone made by the body that stimulates growth) has been shown to be helpful in treating children with chronic kidney disease who fail to grow.
- Trial name
- NCT00212758
- Testing
- Nutropin AQ
- Where
- 8 sites in United States
- Volunteers
- 17 people
- Sponsor
- Oregon Health and Science University
Congenital Sucrase-isomaltase Deficiency (CSID)
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain.
- Trial name
- CSID GPS (NCT01914003)
- Where
- 19 sites in United States
- Volunteers
- 53 people
- Sponsor
- QOL Medical, LLC
Tourette Syndrome
A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS)
Standard placebo-controlled, double-blind study design (TEV-50717 [low dose and high dose] vs. placebo in a 1:1:1 ratio) was chosen to determine whether study drug treatment results in a statistically significant effect on the…
- Trial name
- ARTISTS2 (NCT03571256)
- Testing
- TEV-50717
- Where
- 56 sites in United States, Argentina and 8 more
- Volunteers
- 158 people
- Sponsor
- Teva Branded Pharmaceutical Products R&D, Inc.
Nevi
Study to Test Genetic Alterations Among Different Dermoscopic Types of Melanocytic Nevi.
This project is a multicenter study in which we will investigate a dual concept of nevogenesis. Study location is the Department of Dermatology at the Medical University of Graz in collaboration with centers in Austria (Vienna)…
- Trial name
- NCT00422448
- Testing
- To test the frequency of BRAF and NRAS mutations among nevi
- Where
- Austria
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Medical University of Graz
Phenylketonuria
Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period
The primary objective of the study is to evaluate the proportion of responders (that is, greater than or equal to [>=] 30 percent reduction from Baseline in blood phenylalanine [Phe] level) to treatment with Kuvan® (sapropterin…
- Trial name
- ENDURE (NCT01082328)
- Testing
- Kuvan®
- Where
- Norway
- Volunteers
- 59 people
- Sponsor
- Merck KGaA, Darmstadt, Germany
Stargardt Disease
A Natural History of the Progression of Stargardt Disease: Retrospective and Prospective Studies
Stargardt disease is currently an incurable and untreatable macular dystrophy that causes severe visual loss in children and young adults, thereby causing enormous morbidity with economic, psychological, emotional, and social…
- Trial name
- ProgSTAR (NCT01977846)
- Where
- 9 sites in United States, France and 2 more
- Volunteers
- 259 people
- Sponsor
- Foundation Fighting Blindness
Netherton Syndrome
A Study to Test Whether Spesolimab Helps People With a Skin Disease Called Netherton Syndrome
This study is open to people with a skin disease called Netherton syndrome (NS). People can join the study if they are 12 years or older.
- Trial name
- NCT05856526
- Testing
- Spesolimab - solution for infusion, Spesolimab - solution for injection
- Where
- 28 sites in United States, Australia and 12 more
- Volunteers
- 43 people
- Sponsor
- Boehringer Ingelheim