Clinical trials: Genetics Disease
Sickle Cell Anemia Crisis
Does IV Acetaminophen Reduce Opioid Requirement in Pediatric Patients With Acute Sickle Cell Crises?
The purpose of this study is to determine whether IV acetaminophen can decrease the need for subsequent opioid administration in the acute management of sickle cell crisis pain in the pediatric emergency room.
- Trial name
- NCT03541980
- Testing
- Acetaminophen, Normal saline
- Where
- United States
- Volunteers
- 71 people, healthy volunteers welcome
- Sponsor
- Newark Beth Israel Medical Center
Angelman Syndrome
Angelman Syndrome Natural History Study
The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be…
- Trial name
- NCT04507997
- Where
- 11 sites in United States, Canada
- Volunteers
- 300 people
- Sponsor
- Boston Children's Hospital
Phenylketonuria
Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria
Effect of L-carnitine supplementation on phenylalanine and brain-derived neurotrophic factor levels in infants and children with phenylketonuria L-carnitine is mainly obtained from foods such as red meat and milk that are limited…
- Trial name
- NCT06901323
- Testing
- L-carnitine
- Where
- Egypt
- Volunteers
- 176 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Cystic Fibrosis
Effects of a Partially Supervised Conditioning Program in CF
Physical activity and exercise have become an accepted and valued component of Cystic Fibrosis care. Regular physical activity and exercise can slow the rate of decline of pulmonary function, improve physical fitness, and enhance…
- Trial name
- ACTIVATE-CF (NCT01744561)
- Testing
- Exercise Intervention
- Where
- 28 sites in United States, Austria and 6 more
- Volunteers
- 155 people
- Sponsor
- Wuerzburg University Hospital
Congenital Adrenal Hyperplasia
Androgen Reduction in Congenital Adrenal Hyperplasia, Phase 1
Children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency tend to have elevated circulating levels of androgens, which can accelerate skeletal maturation and adversely impact adult height.
- Trial name
- NCT02574910
- Testing
- Abiraterone acetate
- Where
- 4 sites in United States
- Volunteers
- 4 people
- Sponsor
- University of Texas Southwestern Medical Center
Smith-Magenis Syndrome (SMS)
Natural History Study of Smith-Magenis Syndrome
This study will examine how a rare disease called Smith-Magenis syndrome (SMS) affects people and how they change over time. SMS is caused by a small chromosome 17p11.2 deletion (missing piece).
- Trial name
- NCT00013559
- Where
- United States
- Volunteers
- 593 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Alpha-Mannosidosis
Trial on Safety and Efficacy of Velmanase Alfa Treatment in Pediatric Patients With Alpha-Mannosidosis
The main objectives of the study are to evaluate safety and efficacy of repeated treatment with recombinant human alfa-mannosidase of patients with alfa-mannosidosis aged less than 6 years
- Trial name
- rhLaman-08 (NCT02998879)
- Testing
- Velmanase Alfa (e.g. Lamazym)
- Where
- 6 sites in Austria, Denmark and 3 more
- Volunteers
- 5 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Down Syndrome
Effects of Simulated Equestrian Therapy on Motor Proficiency and Gait Parameters Among Down Syndrome Children
According to the World Health Organization (WHO) and United Nations Children's Fund (UNICEF), one billion people suffer from physical and mental disabilities, with 240 million children.
- Trial name
- NCT05912803
- Testing
- Simulated Equestrian Therapy, Neuro-Motor Therapy
- Where
- Pakistan
- Volunteers
- 56 people
- Sponsor
- Ziauddin University
Mucopolysaccharidosis, Fabry Disease
Non-invasive Assessment of Intraocular Pressure in MPS by Use of the Ocular Response Analyzer.
The aim of the present study is to compare intraocular pressure (IOP) values assessed with Ocular Response Analyzer to the classical gold standard of IOP measurement, to Goldmann applanation tonometry by mucopolysacchyridosis…
- Trial name
- MPSORA (NCT01695161)
- Where
- Germany
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Johannes Gutenberg University Mainz
Prader-Willi Syndrome
Open-Label Extension Study of DCCR in PWS Followed by Double-Blind, Placebo-Controlled, Randomized Withdrawal Period
This is a multi-center, multi-period study with an open-label period followed by a double-blind, placebo-controlled, randomized withdrawal period evaluating the safety and efficacy of DCCR treatment.
- Trial name
- NCT03714373
- Testing
- DCCR
- Where
- 28 sites in United States, United Kingdom
- Volunteers
- 115 people
- Sponsor
- Soleno Therapeutics, Inc.
Nursing Caries, Breathing Exercise
The Effect of Breathing Exercise With Pinwheel on the Quality of Life in Children With Cystic Fibrosis Disease
This study aims to present the results of the effect of pinwheel breathing exercises on the quality of life in children with Cystic Fibrosis (CF).
- Trial name
- NCT06482710
- Testing
- Pinwheel
- Where
- Turkey (Türkiye)
- Volunteers
- 70 people
- Sponsor
- Maltepe University
Mucolipidosis Type IV
The Natural History and Pathogenesis of Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a metabolic disorder that causes mental and motor retardation as well as visual impairment. There is storage of material in practically all the cells of the body, causing problems in the brain and…
- Trial name
- NCT00015782
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Beta-Lactams Allergy, Hypersensitivity
Genomic Study of Genetic Polymorphisms Involved in Immediate Allergic Reactions to Beta-lactam Antibiotics
Beta-lactam antibiotics include penicillin and cephalosporins and are among the most prescribed antibiotics. This category of drugs is the most involved in immediate allergic manifestations with 2% reactions in treated subjects…
- Trial name
- PANGENOMIC-BL (NCT02895646)
- Testing
- Collection of blood sample
- Volunteers
- 2,356 people, healthy volunteers welcome
- Sponsor
- Central Hospital, Nancy, France
Hypercholesterolemia, Familial Hypercholesterolemia
Long Term Post Marketing Specified Drug Use Result Survey for Evolocumab in Japan
The purpose of this post-marketing survey is to obtain real-world information on the safety and effectiveness of evolocumab in Japan.
- Trial name
- NCT02808403
- Testing
- No intervention
- Where
- 138 sites in Japan
- Volunteers
- 6,000 people
- Sponsor
- Amgen
Cystic Fibrosis
A Study Evaluating the Long-Term Safety of Elexacaftor Combination Therapy
This study evaluate the long-term safety and tolerability of elexacaftor (ELX)/tezacaftor (TEZ)/ ivacaftor (IVA) triple combination (TC) in participants with cystic fibrosis (CF) who are homozygous for F508del.
- Trial name
- NCT04362761
- Testing
- ELX/TEZ/IVA, IVA
- Where
- 29 sites in Australia, Belgium and 2 more
- Volunteers
- 172 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Hemophilia A
BAX 855 PK-guided Dosing
1. To compare the efficacy and safety of pharmacokinetic (PK)-guided treatment with BAX 855 targeting FVIII trough levels of 1-3% and approximately 10% (8-12%) 2.
- Trial name
- PROPEL (NCT02585960)
- Testing
- PEGylated Recombinant Factor VIII
- Where
- 83 sites in United States, Australia and 20 more
- Volunteers
- 135 people
- Sponsor
- Baxalta now part of Shire
Hereditary Angioedema
HAELO: A Phase 3 Study to Evaluate NTLA-2002 in Participants With Hereditary Angioedema (HAE)
This Phase 3 study aims to evaluate the efficacy and safety of NTLA-2002 compared to placebo in participants with HAE.
- Trial name
- NCT06634420
- Testing
- NTLA-2002, Normal Saline IV Administration
- Where
- 29 sites in United States, Australia and 7 more
- Volunteers
- 80 people
- Sponsor
- Intellia Therapeutics
Cystic Fibrosis
Combating Diagnostic Wandering and Impasse for Cystic Fibrosis
After cystic fibrosis (CF) neonatal screening, some children remain with a not concluded diagnosis. In France, the medical follow-up is not standardized, some of them may be lost of follow-up.
- Trial name
- NCT05654480
- Where
- France
- Volunteers
- 400 people
- Sponsor
- Societe Francaise de la Mucoviscidose
Schwannoma, Vestibular, Neurofibromatosis 2
NF2 Natural History Consortium
OBJECTIVES: I. Define the growth rates and clinical course of NF2-related tumors in patients with neurofibromatosis type 2. Associate growth rate with physical function.
- Conditions
- Schwannoma, Vestibular, Neurofibromatosis 2, Meningioma
- Trial name
- NCT00004483
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- House Ear Institute
Dermatitis, Atopic
Study Of Atopic Dermatitis In Pediatrics
To verify of cetirizine dry syrup to ketotifen dry syrup in the change in the severity of pruritus of the treatment period.
- Trial name
- NCT00257569
- Testing
- Cetirizine Dry Syrup
- Volunteers
- 278 people
- Sponsor
- GlaxoSmithKline
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