Clinical trials: Functional Deformities
Sickle Cell Disease, Renal Function Disorder
Evaluation of the Impact of Renal Function on the Pharmacokinetics of SIKLOS ® (DARH)
The use of hydroxyurea in sickle cell disease patients with glomerular hyperfiltration and renal failure requires a specific monitoring and dose adjustment in order to remain within the therapeutic interval while limiting the…
- Trial name
- NCT02522104
- Testing
- Siklos
- Where
- France
- Volunteers
- 40 people
- Sponsor
- Theravia
Long QT Syndrome
Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
The primary objective of this study is to evaluate the pharmacokinetic (PK) profile of oral eleclazine and its metabolite, GS-623134, in participants with normal and impaired hepatic function.
- Trial name
- NCT02412098
- Testing
- Eleclazine
- Where
- 7 sites in United States, Germany and 2 more
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- Gilead Sciences
Duchenne Muscular Dystrophy (DMD)
Twice Weekly Steroids and Exercise as Therapy for DMD
The study team will determine the potential of low dose twice weekly prednisone and whether exercise training can synergize to delay disease progression and improve muscle strength/physical function in boys with Duchenne muscular…
- Trial name
- NCT04322357
- Testing
- Prednisone, Exercise Training on standard steroid regimen, Exercise training on twice-weekly steroids
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- University of Florida
Anemia, Sickle Cell
Examining Cognitive Function and Brain Abnormalities in Adults With Sickle Cell Disease
Sickle cell disease (SCD), also known as sickle cell anemia, is an inherited blood disease that can cause intense pain episodes and may lead to organ failure.
- Trial name
- NCT00528801
- Testing
- NP Battery, MRI
- Where
- 12 sites in United States
- Volunteers
- 212 people, healthy volunteers welcome
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Phenylketonuria
A Phase 3 Substudy to Evaluate Executive Function in Adults With PKU Who Are Participating in the Phase 3 Study, 165-302
A Phase 3 substudy to evaluate executive function in adults with phenylketonuria who are participating in the phase 3 Study, 165-302. Approximately 100 subjects, aged ≥ 18 to ≤ 70 years old, with PKU will be enrolled.
- Trial name
- PRISM303 (NCT02468570)
- Testing
- Administration of CANTAB and Subject Global Assessment
- Where
- 4 sites in United States
- Volunteers
- 9 people
- Sponsor
- BioMarin Pharmaceutical
Cystic Fibrosis
Study of LAU-7b in the Treatment of Cystic Fibrosis in Adults
An International Phase II, double-blind, randomized, placebo-controlled study to evaluate the safety and efficacy of LAU-7b administered once-daily for 6 months for the treatment of CF.
- Trial name
- APPLAUD (NCT03265288)
- Testing
- LAU-7b
- Where
- 40 sites in United States, Australia and 1 more
- Volunteers
- 166 people
- Sponsor
- Laurent Pharmaceuticals Inc.
Ornithine Transcarbamylase Deficiency
Investigation of Brain Nitrogen in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1 H MRS, DTI, and fMRI
The purpose of this study is to use various types of MRI and cognitive testing to evaluate changes in the brain and cognitive function that occur in subjects with ornithine transcarbamylase deficiency (OTCD) relative to healthy…
- Trial name
- NCT01569568
- Testing
- MRI scanning, Cognitive testing
- Volunteers
- 49 people, healthy volunteers welcome
- Sponsor
- Andrea Gropman
Huntington's Disease
Open Label Extension Study To Investigate Long Term Safety, Tolerability And Efficacy Of Pf-02545920 In Subjects With Huntington's Disease Who Completed Study A8241021
This study is a 12 month open label extension study of PF-02545920 20 mg dosed BID following study A8241021 in subjects with HD. Primary endpoints will be to assess long-term safety and tolerability of 20 mg BID of PF-02545920.
- Trial name
- NCT02342548
- Testing
- 20 mg BID of PF-02545920
- Where
- 50 sites in United States, Canada and 3 more
- Volunteers
- 188 people
- Sponsor
- Pfizer
Muscular Atrophy, Spinal
Safety and Efficacy of Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA) (OFELIA)
This was a phase IV Open-label, single-arm, single-dose, multicenter study, to evaluate the safety, tolerability and efficacy of intravenous administration of OAV101 (AVXS-101) in patients with SMA with bi-allelic mutations in…
- Trial name
- OFELIA (NCT05073133)
- Testing
- OAV101
- Where
- 5 sites in Argentina, Brazil
- Volunteers
- 16 people
- Sponsor
- Novartis Pharmaceuticals
Primary Hyperoxaluria, Primary Hyperoxaluria Type 1
Nedosiran in Pediatric Patients From Birth to 11 Years of Age With PH and Relatively Intact Renal Function
The aim of this study is to evaluate nedosiran in participants 11 years of age and younger who have Primary Hyperoxaluria with relatively intact renal function.
- Conditions
- Primary Hyperoxaluria, Primary Hyperoxaluria Type 1, Primary Hyperoxaluria Type 2, Primary Hyperoxaluria Type 3
- Trial name
- PHYOX8 (NCT05001269)
- Testing
- nedosiran
- Where
- 13 sites in United States, Canada and 9 more
- Volunteers
- 27 people
- Sponsor
- Dicerna Pharmaceuticals, Inc., a Novo Nordisk company
Osteoarthritis, Avascular Necrosis
Post-market Surveillance Study With the HYPERION Hip Endoprosthesis System in Defect Reconstruction
The study is a multi-center, prospective, non-controlled, consecutive cohort post market surveillance study. The objective of this study is to obtain survival and clinical outcome data on the Hyperion® system in primary and…
- Conditions
- Osteoarthritis, Avascular Necrosis, Rheumatoid Arthritis, Functional Deformities
- Trial name
- NCT03382665
- Where
- 3 sites in Germany
- Volunteers
- 70 people
- Sponsor
- Zimmer Biomet
Huntington Disease
28-Day Study of SAGE-718 on Functioning Capacity in Participants With Huntington's Disease
The primary purpose of this study is to assess the magnitude of the baseline difference between participants with early Huntington's Disease (HD) and healthy participants (HP) with respect to measures of cognitive performance.
- Trial name
- NCT05358821
- Testing
- SAGE-718
- Where
- 14 sites in United States, Canada
- Volunteers
- 69 people, healthy volunteers welcome
- Sponsor
- Supernus Pharmaceuticals, Inc.
Congenital Heart Disease
Acute Effects of Inhaled Treprostinil in Fontan Patients
In this pilot study investigators propose to explore the effects of a locally delivered inhaled pulmonary vasodilator (inhaled treprostinil) on exercise performance, pulmonary blood flow, venous pressure response and vascular…
- Trial name
- NCT02769624
- Testing
- Treprostinil
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Argininosuccinic Aciduria, Amino Acid Metabolism, Inborn Errors
Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Urea cycle disorders are inherited illnesses in which the body does not produce enough of the chemicals that remove ammonia, a byproduct of protein metabolism, from the blood stream.
- Conditions
- Argininosuccinic Aciduria, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
- Trial name
- NCT00345605
- Testing
- Sodium Phenylbutyrate, Arginine
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Brendan Lee
Cerebellar Ataxia, Spinocerebellar Ataxias
Using Real-time fMRI Neurofeedback and Motor Imagery to Enhance Motor Timing and Precision in Cerebellar Ataxia
The aim of the research is to improve motor function in people with cerebellar ataxia by using neuroimaging methods and mental imagery to "exercise" motor networks in the brain.
- Conditions
- Cerebellar Ataxia, Spinocerebellar Ataxias, Cerebellar Degeneration
- Trial name
- NCT05436262
- Testing
- Real-time fMRI with neurofeedback of motor imagery
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Johns Hopkins University
Congenital Heart Disease
Influence of Genetic Polymorphisms on Ventricular Structure and Function in Patients With Single Ventricle Anatomy
There are many kids born with congenital heart disease. Some of these defects may lead to the formation of a single ventricle (the heart having only one pumping chamber).
- Trial name
- NCT00165984
- Where
- United States
- Volunteers
- 224 people
- Sponsor
- Emory University
Cystic Fibrosis
A Study of VX-121 Combination Therapy in Participants With Cystic Fibrosis (CF) Who Are Homozygous for F508del, Heterozygous for F508del and a Gating (F/G) or Residual Function (F/RF) Mutation, or Have At Least 1 Other Triple Combination Responsive (TCR) CFTR Mutation and No F508del Mutation
The purpose of this study is to evaluate the efficacy and safety of VX-121/tezacaftor/deutivacaftor (VX-121/TEZ/D-IVA) in CF participants who are homozygous for F508del, heterozygous for F508del and a gating (F/G) or residual…
- Trial name
- NCT05076149
- Testing
- VX-121/TEZ/D-IVA, ELX/TEZ/IVA, IVA
- Where
- 170 sites in United States, Australia and 18 more
- Volunteers
- 597 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Healthy, Cystic Fibrosis (CF)
MRI for Non-Invasive Imaging in Neonates and Children
The purpose of this study is to develop rapid MRI techniques for imaging the lung with hyperpolarized helium-3 gas as an inhaled contrast agent.
- Conditions
- Healthy, Cystic Fibrosis (CF), Asthma, Bronchopulmonary Dysplasia (BPD)
- Trial name
- NCT02163681
- Testing
- Hyperpolarized Helium-3 MRI of the chest
- Where
- United States
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Cystic Fibrosis
A Phase 3 Study of VX-659 Combination Therapy in Subjects With Cystic Fibrosis Heterozygous for the F508del Mutation and a Minimal Function Mutation (F/MF)
This study will evaluate the efficacy of VX-659 in triple combination (TC) with tezacaftor (TEZ) and ivacaftor (IVA) in subjects with cystic fibrosis (CF) who are heterozygous for F508del and a minimal function mutation (F/MF…
- Trial name
- NCT03447249
- Testing
- VX-659/TEZ/IVA, IVA
- Where
- 101 sites in United States, Australia and 9 more
- Volunteers
- 385 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Cystic Fibrosis
Effectiveness of Pulmozyme in Infants With Cystic Fibrosis
This is a study to find out whether Pulmozyme is effective for clearing mucus from the airways of children with cystic fibrosis less than 3 ½ years of age.
- Trial name
- NCT00179998
- Testing
- Recombinant Human DNase (Pulmozyme)
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Nationwide Children's Hospital