Clinical trials: Genetic Syndrome
Anemia, Sickle Cell
Long-Term Effects of Hydroxyurea in Children With Sickle Cell Anemia (The BABY HUG Follow-up Study)
Sickle cell anemia (SCA) is an inherited blood disorder that can cause organ damage. The BABY HUG study is evaluating the use of the medication hydroxyurea at preventing organ damage in children with SCA.
- Trial name
- NCT00890396
- Testing
- Hydroxyurea
- Where
- 14 sites in United States
- Volunteers
- 163 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Autosomal Dominant Polycystic Kidney Disease
8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
The purpose of this study is to compare the short-term effects of two tolvaptan formulations in patients with ADPKD.
- Trial name
- NOCTURNE (NCT01451827)
- Testing
- Tolvaptan MR, Tolvaptan IR
- Where
- 35 sites in United States
- Volunteers
- 178 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Respiratory Tract Diseases, Abnormal Mucus Secretions
A Clinical Trial to Compare the Efficacy and Safety of 1-week Treatment of Intravenous N-acetylcysteine (NAC) 600 mg Twice Daily, Ambroxol Hydrochloride 30 mg Twice Daily and Placebo as Expectorant Therapies in Adult Chinese Patients With Respiratory Tract Diseases and Abnormal Mucus Secretions
This is a phase 3, multicenter, randomized, rater- and patient-blind, placebo- and active-controlled, 3-arm parallel group clinical trial.
- Trial name
- NCT03843541
- Testing
- N-acetylcysteine (NAC) 600 mg, Ambroxol hydrochloride 30 mg
- Where
- 32 sites in China
- Volunteers
- 333 people
- Sponsor
- Zambon SpA
Atopic Dermatitis
A Study to Evaluate Upadacitinib in Adolescents and Adults With Moderate to Severe Atopic Dermatitis (Measure Up 2)
The objective of this study is to assess the efficacy and safety of upadacitinib for the treatment of adolescent and adult participants with moderate to severe atopic dermatitis (AD) who are candidates for systemic therapy.
- Trial name
- NCT03607422
- Testing
- Upadacitinib
- Where
- 196 sites in United States, Australia and 21 more
- Volunteers
- 912 people
- Sponsor
- AbbVie
Prostate Cancer
Use of β-hydroxy-β-methylbutyrate to Counteract Muscle Loss in Men With Prostate Cancer on Androgen Ablation
This is a study of HMB plus amino acids in older men with prostate cancer starting androgen deprivation therapy (ADT). The investigators hypothesize that the use of this nutritional supplementation will decrease the loss of…
- Trial name
- NCT01607879
- Testing
- Standard of care ADT + (HMB + arginine + glutamine), Standard of care ADT
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Medical College of Wisconsin
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Duchenne Muscular Dystrophy
An Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)
The main purposes of this study are to see if it is safe to use a new medication called vamorolone for more than two weeks in children with Duchenne muscular dystrophy (DMD), to see if vamorolone works for the treatment for DMD…
- Trial name
- NCT02760277
- Testing
- Vamorolone 0.25 mg/day/day, Vamorolone 0.75 mg/day/day, Vamorolone 2.0 mg/day/day
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 48 people
- Sponsor
- ReveraGen BioPharma, Inc.
Cystic Fibrosis
Study of Ataluren (PTC124™) in Cystic Fibrosis
Cystic fibrosis (CF) is a genetic disorder caused by a mutation in the gene that makes the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
- Trial name
- NCT00803205
- Testing
- Ataluren
- Where
- 38 sites in United States, Belgium and 9 more
- Volunteers
- 238 people
- Sponsor
- PTC Therapeutics
Familial Partial Lipodystrophy, Nonalcoholic Steatohepatitis
CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial Lipodystrophy
The study investigators' aim is to determine the long term safety and efficacy of Metreleptin (Myalept,) in promoting amelioration of metabolic abnormalities in patients with all forms of partial lipodystrophy.
- Conditions
- Familial Partial Lipodystrophy, Nonalcoholic Steatohepatitis, NAFLD
- Trial name
- NCT02654977
- Testing
- Metreleptin
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- University of Michigan
Urea Cycle Disorder
Manipulating the Gut Microbiome Study
The objective is to determine if acetohydroxamic acid (AHA) can prevent hydrolysis of urea by inhibiting the bacterial urease of gut flora of both healthy control adults as well as adults with urea cycle disorders
- Trial name
- NCT03181828
- Testing
- Acetohydroxamic Acid Oral Tablet, No treatment
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Nicholas Ah Mew
Severe Hemophilia A
Pharmacokinetics of rFVIIIFc at Two Vial Strengths
The primary objective of the study is to characterize the pharmacokinetics (PK) of rFVIIIFc administered at vial strengths of 1000 and 3000 IU in subjects with severe hemophilia A.
- Trial name
- NCT02083965
- Testing
- rFVIIIFc
- Where
- 8 sites in United States, Australia and 1 more
- Volunteers
- 19 people
- Sponsor
- Bioverativ Therapeutics Inc.
Sickle Cell Disease
A Rehabilitation Program in Children With Sickle Cell Disease and Cognitive Deficits: a Pilot Study
The overall goal of this project is to determine the feasibility of conducting a cognitive intervention for children with sickle cell disease.
- Trial name
- NCT00895154
- Testing
- General Tutoring, Memory Training
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Washington University School of Medicine
Cystic Fibrosis
FDG-PET Imaging in Young Cystic Fibrosis Patients
The purpose of this research is to determine how a person's lungs will uptake [18F]fluorodeoxyglucose (FDG), as measured with positron emission tomography (PET) scanning in young cystic fibrosis (CF) patients.
- Trial name
- NCT00846053
- Testing
- FDG-PET
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Washington University School of Medicine
Phenylketonuria
Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3)
SYNB1934-CP-003 was designed as a 3-part, adaptive study consisting of a dose-escalating, open-label period (DEP; Part 1) of up to 15 weeks, followed by a 4-week, double-blind, placebo-controlled, randomized withdrawal period…
- Trial name
- SYNPHENY-3 (NCT05764239)
- Testing
- SYNB1934v1
- Where
- 21 sites in United States, Canada and 2 more
- Volunteers
- 35 people
- Sponsor
- Synlogic
Atopic Dermatitis, Eczema
Daily Use of Lipikar Balm AP From Birth in Infants at High Risk of Developing Atopic Dermatitis
There is a lack of prospective scientific data on the regular use of moisturizers in patients at risk of developing atopic dermatitis.
- Conditions
- Atopic Dermatitis, Eczema, Asthma, Food Allergies
- Trial name
- NCT01577628
- Testing
- Lipikar Balm AP
- Where
- 4 sites in United States, Canada
- Volunteers
- 2 people, healthy volunteers welcome
- Sponsor
- Cosmetique Active International
Thyroid Eye Disease
Twenty-four Hour Intraocular Pressure Patterns in Patients With Uncontrolled Thyroid Eye Disease
Patients with Thyroid Eye Disease (TED) often have enlarged extraocular muscles and higher orbital fat contents due to their disease process.
- Trial name
- NCT01798966
- Testing
- SENSIMED Triggerfish
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Sensimed AG
Arginase I Deficiency, Hyperargininemia
A Study of AEB1102 (Pegzilarginase) in Patients With Arginase 1 Deficiency
The purpose of this study is to determine the safety, tolerability, and efficacy of long-term intravenous and subcutaneous administration of pegzilarginase for the treatment of pediatric and adult patients with ARG1-D who…
- Trial name
- NCT03378531
- Testing
- AEB1102
- Where
- 7 sites in United States, Canada and 2 more
- Volunteers
- 14 people
- Sponsor
- Immedica Pharma AB
Atopic Dermatitis
Long-term Extension Trial in Subjects With Atopic Dermatitis Who Participated in Previous Tralokinumab Trials - ECZTEND
The purpose of this extension trial is to evaluate the long-term safety of tralokinumab.
- Trial name
- NCT03587805
- Testing
- Tralokinumab
- Where
- 309 sites in United States, Belgium and 9 more
- Volunteers
- 1,672 people
- Sponsor
- LEO Pharma
Arterial Calcification, CD73 Deficiency
Etidronate for Arterial Calcifications Due to Deficiency in CD73 (ACDC)
Background: Arterial Calcifications due to Deficiency in CD73 (ACDC) is a rare genetic disease. People with ACDC develop calcification in the arteries of the lower extremities as well as calcium deposit in the joints of the…
- Trial name
- NCT01585402
- Testing
- Etidronate, MRI Scan
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Sickle Cell Disease
SCD-Haplo: Phase II Study of HLA-Haploidentical SCT for Aggressive SCD
Related donor stem cell transplantation using the alemtuzumab/ TBI platform has been shown to be a safe strategy to cure severe sickle cell disease.
- Trial name
- SCD-Haplo (NCT02013375)
- Testing
- Haploidentical Transplant, Alemtuzumab, Total Body Irradiation
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Damiano Rondelli, MD
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