Clinical trials: Multiple Anomalies
Primary Ciliary Dyskinesia
Use of Nasal Nitric Oxide Testing in Improving Primary Ciliary Dyskinesia Clinical Care
this study is aiming at learning more about primary ciliary dyskinesia (PCD) and tests that are used to diagnose this condition.
- Trial name
- NCT05287022
- Where
- United States
- Volunteers
- 150 people
- Sponsor
- Arkansas Children's Hospital Research Institute
Trisomy 21
Non-invasive Screening of Fetal Trisomy 21 by Digital PCR
In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical markers in the maternal blood, and the…
- Trial name
- dPNI-T21 (NCT03687866)
- Testing
- non invasive prenatal testing
- Where
- France
- Volunteers
- 776 people, healthy volunteers welcome
- Sponsor
- University Hospital, Caen
Dural Arteriovenous Fistula
Treatment of Dural Arteriovenous Fistulas With SQUID™ Liquid Embolic Agent
The purpose of this study is assessment of safety, efficacy, and short-term outcome of SQUID™ in the embolization of Dural Arteriovenous Fistula
- Trial name
- Liquid (NCT03524976)
- Testing
- Squid
- Where
- 7 sites in Germany
- Volunteers
- 50 people
- Sponsor
- Dr. Markus Alfred Möhlenbruch
Duchenne Muscular Dystrophy (DMD)
Safety Study of Eteplirsen to Treat Early Stage Duchenne Muscular Dystrophy
This is an open-label study to assess the safety, tolerability, efficacy and pharmacokinetics of eteplirsen in patients with early stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.
- Trial name
- NCT02420379
- Testing
- eteplirsen
- Where
- 13 sites in United States
- Volunteers
- 33 people
- Sponsor
- Sarepta Therapeutics, Inc.
Prader-Willi Syndrome
Long-term Interventional Follow-up Study of Children With Prader-Willi Syndrome Included in the OTBB3 Clinical Trial
This study is a prospective, multicentre, interventional cohort study in children with Prader-Willi Syndrome (PWS) over 4 years (no treatment administered). The duration of the preceding OTTB3 study is 26 weeks.
- Trial name
- OTBB3-FU (NCT05032326)
- Testing
- Follow-up study of the treated cohort, Follow-up study of the untreated cohort
- Where
- 12 sites in France
- Volunteers
- 80 people
- Sponsor
- University Hospital, Toulouse
Leukemia, Lymphoma
Melphalan, Fludarabine, and Alemtuzumab Followed by Peripheral Stem Cell Transplant in Treating Patients With Hematologic Cancer
RATIONALE: Giving low doses of chemotherapy, such as melphalan and fludarabine, and a monoclonal antibody, such as alemtuzumab, before a donor bone marrow or peripheral blood stem cell transplant helps stop the growth of cancer…
- Conditions
- Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm, Myelodysplastic Syndromes
- Trial name
- NCT00027560
- Testing
- alemtuzumab, cyclosporine, fludarabine phosphate
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- Memorial Sloan Kettering Cancer Center
Osteoarthritis, Arthritis
A Multi-centre, Prospective Surveillance to Assess Mid-term Performance of the Mpact Cup
This is a multi-centre, prospective post marketing surveillance study to assess mid-term performance of the Mpact cup in subjects requiring primary total hip arthroplasty.
- Conditions
- Osteoarthritis, Arthritis, Avascular Necrosis, Fracture of the Femoral Neck or Head
- Trial name
- NCT02196818
- Testing
- Mpact Acetabular Shell
- Where
- 4 sites in United States
- Volunteers
- 200 people
- Sponsor
- Medacta International SA
Muscular Dystrophy, Duchenne
Rimeporide in Patients With Duchenne Muscular Dystrophy
In Duchenne Muscular Dystrophy (DMD) there is an imbalance between the levels of calcium and sodium in the muscles cells which is thought to be important in the damage which occurs overtime.
- Trial name
- RIM4DMD (NCT02710591)
- Testing
- Rimeporide
- Where
- 4 sites in France, Italy and 2 more
- Volunteers
- 20 people
- Sponsor
- EspeRare Foundation
POEMS Syndrome
A Study of KQ-2003 CAR-T Cell Therapy for Patients With Relapsed or Refractory POEMS Syndrome
This is a multicenter, open-label, dose-escalation/expansion phase 1 study to evaluate the safety, tolerability, pharmacokinetic/pharmacodynamic characteristics and determine the recommended dose of KQ-2003 CAR T-cells for…
- Trial name
- NCT06518876
- Testing
- KQ-2003 CAR T-cells
- Where
- China
- Volunteers
- 21 people
- Sponsor
- Novatim Immune Therapeutics (Zhejiang) Co., Ltd.
Acute Leukemia, Adenomatous Polyposis
Familial Investigations of Childhood Cancer Predisposition
NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll.
- Conditions
- Acute Leukemia, Adenomatous Polyposis, Adrenocortical Carcinoma, AML
- Trial name
- SJFAMILY (NCT03050268)
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- St. Jude Children's Research Hospital
Cockayne Syndrome, Type I and II
Growth Curves in Cockayne Syndrome Type 1 and Type 2
Despite the natural progression of Cockayne's syndrome, affected patients also present with variable neurological and gastrointestinal damage (gastroesophageal reflux, recurrent vomiting, swallowing disorders, etc.) with varying…
- Trial name
- Curves-CS (NCT05090917)
- Where
- France
- Volunteers
- 85 people
- Sponsor
- University Hospital, Strasbourg, France
Retinopathy of Prematurity, ROP
Validation of i-ROP DL to Detect More Than Mild ROP
The purpose of the pivotal reader study is to assess the readers' accuracy in diagnosing plus disease versus no plus or pre-plus disease with or without the aid of the i-ROP DL.
- Trial name
- NCT06109285
- Testing
- iROP DL
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- Siloam Vision
Down Syndrome
Effects of Karate in Adolescents With Down Syndrome
This randomized control study will investigate the health outcomes of adolescents with Down Syndrome who participate in a karate class as measured by ALPHA fitness testing and various PROMIS parent proxy questionnaires to assess…
- Trial name
- NCT03058640
- Testing
- PKSA karate class
- Where
- United States
- Volunteers
- 16 people, healthy volunteers welcome
- Sponsor
- University of Michigan
Hypospadias, Hypospadias, Coronal
Caudal Anesthesia Versus Local Anesthesia in Hypospadias
Hypospadias is among the most common congenital genital malformations in boys and is typically treated through surgical intervention.
- Conditions
- Hypospadias, Hypospadias, Coronal, Caudal Anesthesia, Children
- Trial name
- NCT06417060
- Testing
- Caudal block anesthesia, Dorsal penile block anesthesia
- Where
- 3 sites in North Macedonia, Russia and 1 more
- Volunteers
- 200 people
- Sponsor
- Necmi Kadıoğlu Hospital
Duchenne Muscular Dystrophy
A Study of TAS-205 for Duchenne Muscular Dystrophy
The objective of this study is to evaluate the safety and pharmacokinetic of TAS-205 in patients with Duchenne Muscular Dystrophy.
- Trial name
- NCT02246478
- Testing
- TAS-205
- Where
- Japan
- Volunteers
- 23 people
- Sponsor
- Taiho Pharmaceutical Co., Ltd.
Huntington's Disease
A Study of the Novel Drug Dimebon in Patients With Huntington's Disease
This study will evaluate the safety of 3 months of Dimebon dosing and the efficacy of Dimebon in improving cognitive, motor, and overall function in subjects with Huntington's Disease.
- Trial name
- DIMOND (NCT00497159)
- Testing
- Dimebon
- Where
- United States
- Volunteers
- 91 people
- Sponsor
- Medivation, Inc.
Down Syndrome
Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People
This is the first study about Neuropsychological function and OSAS in Taiwan. Although the correlation between OSAS and neuropsychological abnormalities had been reported, it is worth to understand more about the detailed domains…
- Trial name
- NCT03267602
- Testing
- CPAP
- Volunteers
- 45 people
- Sponsor
- National Taiwan University Hospital
Alagille Syndrome
Positional Cloning of the Gene(s) Responsible for Alagille Syndrome
The goal of the project is to identify and clone the gene(s) responsible for the Alagille Syndrome (AGS) by a positional cloning approach.
- Trial name
- NCT00001642
- Where
- United States
- Volunteers
- 225 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Multiple Endocrine Neoplasia
Metabolomics and Genetic Diagnosing Pancreatic Neuroendocrine Tumors in MEN1 Patients
Objectives: The aim of the present study is to assess the significance of metabolomics and genetics in diagnosing and survival evaluation for pNET in the periodic follow-up of MEN1 patients.
- Trial name
- NCT03048266
- Where
- United States
- Volunteers
- 629 people, healthy volunteers welcome
- Sponsor
- M.D. Anderson Cancer Center
Obstructive Sleep Apnea (OSA), Orofacial Myofunctional Disorders
Oromyofunctional Therapy: a Rehabilitation Program for OSA in Children With Down Syndrome and Prader-Willi Syndrome
Obstructive sleep apnea (OSA) is a prevalent medical condition with important implications for overall health and quality of life in both children. Therefore, it is important to treat OSA early and effectively.
- Trial name
- OROFIT-P (NCT07122505)
- Testing
- Orofacial myofunctional therapy
- Where
- Belgium
- Volunteers
- 60 people
- Sponsor
- University Ghent