Clinical trials: Birth Defect
Hereditary Angioedema
Assessment of the State of Health, Quality of Life and Expectations of Patients With Hereditary Angioedema
8 years after the establishment of the therapeutic education program and 14 years after the creation of the National Reference Center for Angioedemas (CREAK), it is necessary to make an inventory in 2021 on the disease…
- Trial name
- BESQAOH (NCT04888650)
- Testing
- questionnaire
- Where
- France
- Volunteers
- 314 people
- Sponsor
- University Hospital, Grenoble
Glycogen Storage Disease Type II
Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT
To investigate the motor development, motor function and electrodiagnostics presentation in IOPD under ERT.
- Trial name
- NCT02761421
- Testing
- observation study
- Where
- Taiwan
- Volunteers
- 15 people
- Sponsor
- Taipei Veterans General Hospital, Taiwan
Cystic Fibrosis
Evaluation of Long-Term Safety and Efficacy of Vanzacaftor/Tezacaftor/Deutivacaftor in Cystic Fibrosis Participants 1 Year of Age and Older
The purpose of this study is to evaluate the long-term safety, tolerability, and efficacy of vanzacaftor/tezacaftor/deutivacaftor (VNZ/TEZ/D-IVA) in participants with cystic fibrosis (CF).
- Trial name
- NCT05844449
- Testing
- VNZ/TEZ/D-IVA
- Where
- 37 sites in United States, Australia and 8 more
- Volunteers
- 174 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
Neurofibromatosis 1 and 2 (NF1 and NF2)
A Single Center Pilot Study to Assess the Intra-observer Reliability of Measuring Muscle Strength Using a Hand Held Dynamometer in Children and Adults With Neurofibromatosis Type 1 (NF1) and Type 2 (NF2)
Patients with clinically confirmed neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2) or a known neurofibromatosis (NF) mutation aged 5 years and above will be eligible to participate and will be recruited from the…
- Trial name
- NCT03672838
- Testing
- hand-held dynamometer
- Where
- United States
- Volunteers
- 33 people
- Sponsor
- NYU Langone Health
Homozygous Familial Hypercholesterolemia (HoFH), Coronary Computed Tomography Angiography
Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH)
This observational, multicenter, retrospective and prospective study aims to evaluate the impact of intensified lipid-lowering therapy including Evinacumab on coronary atherosclerotic plaque burden in patients with Homozygous…
- Trial name
- EVOLVE-HoFH (NCT07447648)
- Where
- 13 sites in France, Italy and 2 more
- Volunteers
- 52 people
- Sponsor
- Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)
Choledochal Cyst
Efficacy and Safety of Surgical Treatment for Type IVa CBD
This study is a multicenter, bidirectional cohort study aimed at continuously enrolling patients with biliary dilatation from 25 medical centers in China.
- Trial name
- NCT07036848
- Where
- China
- Volunteers
- 1,500 people
- Sponsor
- Beijing Tsinghua Chang Gung Hospital
Hereditary Angioedema (HAE)
A Study of Lanadelumab in Teenagers and Adults With Hereditary Angioedema (HAE) in the Kingdom of Saudi Arabia
Hereditary angioedema (HAE) is a rare condition. It causes sudden swelling under the skin and inside the body, like in the belly, throat, or genitals.
- Trial name
- NCT07263685
- Testing
- No intervention
- Where
- Saudi Arabia
- Volunteers
- 50 people
- Sponsor
- Takeda
Hypoxia-Ischemia, Brain, Periventricular Leukomalacia
Umbilical Cord Blood Proteomic Analysis and Neonatal Brain Injury
The investigators propose to compare the proteomic analysis of umbilical venous blood from neonates with brain injury to gestational age matched noninjured controls.
- Trial name
- NCT00375908
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Johns Hopkins University
Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency
A Natural History Study of Aspartylglucosaminuria
Aspartylglucosaminuria (AGU) is a rare neurodegenerative lysosomal storage disease (LSD) characterized by developmental delay, psychomotor regression, worsening intellectual disability, gait disturbance and, ultimately, premature…
- Conditions
- Aspartylglucosaminuria, Aspartylglucosamidase (AGA) Deficiency, Lysosomal Storage Diseases
- Trial name
- AGU (NCT03853876)
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Neurogene Inc.
Atopic Dermatitis, Allergy
Bathing Babies and Allergy
Atopic dermatitis (AD) is a chronic allergic skin disease with onset in early childhood and increasing prevalence in Westernized countries. Current well newborn guidelines for washing babies with soap were adopted by U.S.
- Trial name
- BBA (NCT03050658)
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- University of Virginia
Orofacial Clefts, Cleft Lip and Palate
Analgosedation With Ketamine, Nalbuphine, or Dexmedetomidine for Suture Removal in Children After Cleft Surgery
This prospective, randomized study is designed to compare the efficacy and safety of three sedative-analgesic agents-intramuscular ketamine, intranasal nalbuphine, and intranasal dexmedetomidine-for procedural sedation in…
- Conditions
- Orofacial Clefts, Cleft Lip and Palate, Alveolar Ridge Defect
- Trial name
- KID-CLEFT (NCT07340008)
- Testing
- ketamine, Nalbuphine, Dexmedetomidine
- Where
- Slovenia
- Volunteers
- 60 people
- Sponsor
- University Medical Centre Ljubljana
Sickle Cell Disease, Pain
Integrative Medicine in Pain Management in Sickle Cell Disease, 2.0
The proposed research is to determine the clinical efficacy and neurobiological mechanisms of acupuncture analgesia in patients with sickle cell disease.
- Conditions
- Sickle Cell Disease, Pain, Acupuncture, Quantitative Sensory Testing
- Trial name
- NCT06725550
- Testing
- needling acupuncture, laser acupuncture
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- University of Cincinnati
Phenylketonurias
The Effect of Nursing Empowerment Program
The study has shown that the strengthening program applied to the families of children diagnosed with phenylketonuria (PKU) and the education given; It will be conducted in order to examine the effect of the family's coping…
- Trial name
- NCT05497050
- Testing
- Family education
- Where
- Turkey (Türkiye)
- Volunteers
- 36 people, healthy volunteers welcome
- Sponsor
- Cukurova University
Atopic Dermatitis (AD), Cholesterol
A Study on the Efficacy of 2% Cholesterol Cream in Atopic Dermatitis
Atopic dermatitis is a common chronic inflammatory skin condition characterized by impaired skin barrier function, leading to increased transepidermal water loss (TEWL), dry skin, and itching.
- Conditions
- Atopic Dermatitis (AD), Cholesterol, Skin Barrier to Water Loss, Skin Allergy
- Trial name
- NCT07503197
- Testing
- Topical 2% cholesterol cream
- Where
- Thailand
- Volunteers
- 30 people
- Sponsor
- Institute of Dermatology, Thailand
Prader Willi Syndrome, Syndromic Obesity
Prader-Willi Syndrome Macronutrient Study
The overall objective is to explore the mechanisms by which macronutrients regulate food intake and weight gain in Prader Willi Syndrome (PWS).
- Conditions
- Prader Willi Syndrome, Syndromic Obesity, Childhood Obesity
- Trial name
- NCT02011360
- Testing
- Low Carbohydrate diet, Low Fat diet
- Where
- 2 sites in United States, Canada
- Volunteers
- 10 people
- Sponsor
- Duke University
Congenital Diaphragmatic Hernia
Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science
The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia in humans. The identification of such genes, and examination of their structure and function, will enable a delineation of…
- Trial name
- DHREAMS (NCT00950118)
- Where
- 14 sites in United States, Egypt
- Volunteers
- 3,000 people, healthy volunteers welcome
- Sponsor
- Columbia University
Methylmalonic Aciduria and Homocystinuria,Cblc Type, Genetic Disease
EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
The aim of the research is to investigate the safety and efficacy of EPI-743 treatment in patients with Cbl-C defect and related visual and neurological impairment.
- Conditions
- Methylmalonic Aciduria and Homocystinuria,Cblc Type, Genetic Disease, Retinopathy
- Trial name
- NCT01793090
- Testing
- Epi-743
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- Bambino Gesù Hospital and Research Institute
Fabry Disease
German Observational Multicenter Study of Patients With Fabry Disease Under Chaperone Therapy With Migalastat-HCl.
The objective of the study is to document long term data on treatment with Migalastat under "real world" conditions. The selection of patients is based on the SmPC/Fachinformation. The study duration/patient will be 2 years.
- Trial name
- NCT03135197
- Where
- Germany
- Volunteers
- 75 people
- Sponsor
- University Hospital Muenster
Prominent Ears
Analysis of Postoperative Bandage Use Protocols in Otoplasty
The aim of the study is to investigate the possible influence of different durations of use of postoperative elastic bandaging (seven days vs. thirty days) in the results of otoplasty.
- Trial name
- NCT01810497
- Testing
- Use of ear bandage
- Where
- Brazil
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Campinas, Brazil
Glycogen Storage Disease
Lingual Muscle Training in Late-Onset Pompe Disease (LOPD)
This study is being done to test the effects of Lingual Muscle Therapy (LMT) in patients with Late-Onset Pompe Disease (LOPD) who have tongue weakness.
- Trial name
- NCT03255213
- Testing
- Lingual Muscle Training
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Duke University