Clinical trials: Abnormalities
Osteodysplasia
Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow Transplantation
Osteodysplasia or poorly formed bones, "brittle bones" is a genetic disease with no known proven treatments. Some forms of osteodysplasia may cause severe disability and even death.
- Trial name
- NCT00186914
- Testing
- Marrow stromal cell infusion
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- St. Jude Children's Research Hospital
Pelizaeus-Merzbacher Disease
Orbit Study: A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of Intrathecally Administered ION356 in Participants With Pelizaeus Merzbacher Disease (PMD)
The primary purpose of this study is to evaluate the safety and tolerability of ION356.
- Trial name
- NCT06150716
- Testing
- ION356
- Where
- 7 sites in United States, France and 3 more
- Volunteers
- 24 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Charcot-Marie-Tooth Disease
Survey of Current Management of Orthopaedic Complications in CMT Patients
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Foot deformities are frequent complications in CMT patients and orthopaedic surgery is often required.
- Trial name
- NCT02001038
- Testing
- Survey
- Where
- United Kingdom
- Volunteers
- 16 people
- Sponsor
- University College London Hospitals
Gastroschisis
Evaluation of Glycerin Suppositories to Improve Bowel Function in Gastroschisis
Gastroschisis is a congenital defect of the abdominal wall that leads to evisceration of various amounts of the abdominal organs.
- Trial name
- NCT03355326
- Testing
- Glycerin Suppository
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Indiana University
Wilson Disease
French Wilson Disease Registry
This registry concerns adults and children with Wilson's disease. The collection of a large amount of data will allow a better understanding of the epidemiology of this rare disease, in particular the age of onset according to…
- Trial name
- WIL-FR (NCT05231876)
- Testing
- Recording of pathology-related information on the Wilson Register
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
Anemia, Sickle Cell
Transfusion Treatment in Patients With SCD
The "National Transfusion Treatment Survey in patients with sickle cell disease (SCD)" is a prospective longitudinal systemic study that was created in order to evaluate the therapeutic approach, mainly transfusional, in patients…
- Trial name
- NCT03397017
- Testing
- Transfusion
- Where
- Italy
- Volunteers
- 200 people
- Sponsor
- Società Italiana Talassemie ed Emoglobinopatie
Memory Replay, HippoCamera
A VIRTUAL Three-month Intervention Study of the Effects of a Smartphone Application (HippoCamera) on Memory in Teens and Young Adults With Down Syndrome
Down syndrome is a chromosomal abnormality associated with significant deficits across multiple cognitive domains, including a disproportionate deficit in hippocampally-dependent memory.
- Trial name
- NCT07008989
- Testing
- Memory replay
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Boston College
Hereditary Angioedema, Pediatric
Berotralstat Treatment in Children With Hereditary Angioedema
The purpose of this study is to evaluate the pharmacokinetics (PK), safety and effectiveness of berotralstat to determine the appropriate weight-based dose for pediatric participants 2 to < 12 years of age for prophylactic…
- Trial name
- APeX-P (NCT05453968)
- Testing
- Berotralstat
- Where
- 15 sites in Austria, Canada and 8 more
- Volunteers
- 29 people
- Sponsor
- BioCryst Pharmaceuticals
Atopic Dermatitis
Mechanisms of Increased Disease Severity in AD Patients With the IL-4Ra R576 Polymorphism
This protocol is primarily looking to see if the IL-4Ra R576 polymorphism is associated with increased clinical, immunological and microbial markers of disease activity in patients with Atopic dermatitis.
- Trial name
- NCT04455906
- Where
- United States
- Volunteers
- 111 people
- Sponsor
- Boston Children's Hospital
Cystic Fibrosis, Steatorrhea
An Effectiveness, Safety, and Palatability Study of Pancrelipase Microtablets in Infants and Toddlers With Cystic Fibrosis and Fat Malabsorption
The purpose of this study is to evaluate the effectiveness and safety of PANCREASE MT (pancrelipase microtablets) to improve steatorrhea (excessive excretion of fat in feces) in infants and toddlers with cystic fibrosis who have…
- Trial name
- NCT00217204
- Testing
- Pancrelipase microtablets
- Volunteers
- 18 people
- Sponsor
- McNeil Consumer & Specialty Pharmaceuticals, a Division of McNeil-PPC, Inc.
Pediatric Disorder, Hypospadias
The Optimal Urethral Coverage in Hypospadias Repair: Dartos Fascia Versus Tunica Vaginalis Flap? A Randomized Controlled Trial
To explore the optimal urethral coverage in hypospadias repair by comparing the success rate of both covering techniques: Dartos fascia versus Tunica Vaginalis flap.
- Conditions
- Pediatric Disorder, Hypospadias, Congenital Hypospadia, Urologic Diseases
- Trial name
- NCT05123833
- Testing
- Hypospadias repair
- Where
- Egypt
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Mansoura University
Prader-Willi Syndrome
Oxytocin Treatment in Neonates and Infants With Prader-Willi Syndrome
Prospective, randomized, placebo-controlled, double-blind part of the phase III trial to assess the safety and efficacy of 4 weeks oxytocin (OT) administration on oral and social skills in neonates/infants with Prader-Willi…
- Trial name
- OTBB3 (NCT04283578)
- Testing
- OT
- Where
- 7 sites in Belgium, France and 1 more
- Volunteers
- 52 people
- Sponsor
- University Hospital, Toulouse
Hemophilia B
Registry For Patients Treated With BeneFix In Usual Care Setting In Germany
The purpose of this observational study is to describe the incidence of adverse events among patients treated with BeneFix® in usual health care settings in Germany.
- Trial name
- NCT00714415
- Testing
- BeneFIX
- Where
- 21 sites in Austria, Germany
- Volunteers
- 80 people
- Sponsor
- Pfizer
Bronchopulmonary Dysplasia
The Impact of Lung Recruitment Maneuver in 24-32 Weekers, and the Incidence of Bronchopulmonary Dysplasia
hypothesis : 1. The incident of dysplasia bronchopulmonary and/or death in 24-32 weekers babies on assist-control volume guarantee ventilation are lower in lung recruitment maneuver (LRM) group compare to control. 2.
- Trial name
- NCT04555889
- Testing
- lung recruitment maneuver (LRM) with DrageerVN500
- Volunteers
- 110 people
- Sponsor
- Dr. R. Adhi Teguh Perma Iskandar, Sp.A(K)
Spinal Muscular Atrophy Type 3, Mitochondrial Myopathy
Oxidative Capacity and Exercise Tolerance in Ambulatory SMA
This proposal will focus on (1) estimating oxidative capacity of specific muscle groups during exercise using near infrared spectroscopy and (2) describing body composition to better understand exercise capacity and mitochondrial…
- Trial name
- NCT02895789
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Columbia University
Heart Defects, Congenital
Advancing the Science of Pediatric Interstage Home Monitoring
The overall goal of this study is to understand the feasibility of using a wireless sensor device (instead of a wired device) to collect information used to monitor children with heart conditions at home.
- Trial name
- Heart@Home (NCT06547268)
- Testing
- Wireless sensor and platform
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Ann & Robert H Lurie Children's Hospital of Chicago
Impetigo, Folliculitis
Twice Daily Altabax Application for the Treatment of Uncomplicated Soft Tissue Infection
The purpose of this study is to document the clinical and bacteriological efficacy of retapamulin in the treatment of subjects with bacterial infections, including impetigo, folliculitis, and minor soft tissue infections…
- Conditions
- Impetigo, Folliculitis, Secondarily Infected Eczema, Minor Soft Tissue Infections
- Trial name
- NCT01126268
- Testing
- Retapamulin (Altabax)
- Where
- United States
- Volunteers
- 38 people
- Sponsor
- The University of Texas Health Science Center, Houston
Asthma, Allergic Rhinitis
Fractional Exhaled Nitric Oxide (FeNO) Result Prediction Factors in Children With Allergic Diseases
In about 800 children with allergic diseases (asthma, allergic rhinitis, atopic dermatitis) the investigators will retrospectively and cross-sectionally analyze the influence/correlation of diagnosis, treatment methods, allergy…
- Conditions
- Asthma, Allergic Rhinitis, Atopic Dermatitis
- Trial name
- NCT00815984
- Testing
- measurements of lung function tests
- Where
- Poland
- Volunteers
- 800 people
- Sponsor
- Medical University of Lodz
Pompe Disease
A Long-term Study for the Outcome of Pompe Disease
Prospectively follow patients with Pompe disease underwent enzyme replacement therapy.
- Trial name
- NCT02399748
- Where
- Taiwan
- Volunteers
- 50 people
- Sponsor
- National Taiwan University Hospital
Wiskott-Aldrich Syndrome
Haploidentical Hematopoietic Stem Cell Transplantation Patients With Wiskott-Aldrich Syndrome
Wiskott - Aldrich syndrome (WAS) is a rare disorder curable only through allogeneic hematopoietic stem cell transplantation. A mismatched family member is an option when no human leukocyte antigen (HLA-immune system type) matched…
- Trial name
- NCT00160355
- Testing
- Hematopoietic stem cell transplantation, Miltenyi CliniMACS selection system, Fludarabine, Melphalan, Thiotepa
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- St. Jude Children's Research Hospital
The first 1,020 results can be paged through. Add a filter or change the sort order to reach the rest.