Clinical trials: X-Linked
Duchenne Muscular Dystrophy (DMD), Lower Urinary Tract Symptoms (LUTS)
Urotherapy Education for Families of Children With Duchenne Muscular Dystrophy
This study aims to investigate the effects of urotherapy education provided to families of children with Duchenne muscular dystrophy on parents' knowledge, lifestyle changes, and satisfaction with the education.
- Trial name
- NCT07821125
- Testing
- Urotherapy Education
- Where
- Turkey (Türkiye)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Lokman Hekim University
Creatine Deficiency, X-linked, Creatine Deficiency Syndrome Due to Gamt Deficiency
Optical Imaging as a Tool for Monitoring Brain Function in Creatine Deficiency Syndromes
The objective of this project is to explore the potential of functional near-infrared spectroscopy (fNIRS) as innovative functional biomarker for clinical trial readiness in Creatine Deficiency Syndromes (CDS), a group of rare…
- Trial name
- NCT06292884
- Where
- Italy
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- IRCCS Fondazione Stella Maris
Chronic Granulomatous Disease, Inflammatory Bowel Disease
Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations
Background: PIDD stands for primary immune dysregulation. It is a general term that includes many different inherited immune system disorders. The immune system is the part of the body that helps fight disease and infection.
- Trial name
- NCT03278912
- Where
- United States
- Volunteers
- healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Intellectual Disability, Neurodevelopmental Disorders
Physical Activity and Community EmPOWERment Project
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease…
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome
- Trial name
- PACE (NCT06740162)
- Testing
- PACE Program
- Where
- 2 sites in United States
- Volunteers
- 376 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
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
Duchenne / Becker Muscular Dystrophy
Cardiac Involvement in Patients With Duchenne/Becker Muscular Dystrophy
This study evaluates the function of the heart in young patients with muscular dystrophy type Duchenne or Becker. Participants have their hearts examined at regular intervals by ultrasound (echocardiography) and cardiac magnetic…
- Trial name
- NCT02470962
- Testing
- Observation
- Where
- Switzerland
- Volunteers
- 59 people, healthy volunteers welcome
- Sponsor
- University Children's Hospital, Zurich
Fabry's Disease
Early Detection and Follow-Up of Patients With Fabry's Disease
This research project will serve on the enhancement of early detection, diagnosis and follow-up of patients with Fabry Disease, through new biomarkers identification. This could have straight clinical impact on: 1.
- Trial name
- NCT04847713
- Testing
- extraction of blood samples
- Where
- Spain
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital Clinico Universitario de Santiago
Fabry Disease
Studying Lipids as Potential Biomarkers in Patients With Fabry Disease
Compare levels of lipids between well characterised enzymatically-genetically-phenotypically patients with Fabry disease and healthy controls (with no Fabry disease).
- Trial name
- NCT05046379
- Testing
- Lipidomics
- Where
- 3 sites in Sweden
- Volunteers
- 108 people, healthy volunteers welcome
- Sponsor
- Vastra Gotaland Region
Congenital Bleeding Disorder, Haemophilia A
Investigating the Bioequivalence of Eptacog Alfa A 6 mg and NovoSeven® in Healthy Male Subjects
This trial is conducted in Europe. The aim of the trial is to investigate the bioequivalence of eptacog alfa A 6 mg and NovoSeven® in healthy male subjects.
- Conditions
- Congenital Bleeding Disorder, Haemophilia A, Haemophilia A With Inhibitors, Haemophilia B
- Trial name
- NCT02084810
- Testing
- activated recombinant human factor VII, eptacog alfa (activated)
- Volunteers
- healthy volunteers welcome
- Sponsor
- Novo Nordisk A/S
Muscular Dystrophies, Becker Muscular Dystrophy
Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies
Duchenne muscular dystrophy (DMD) , caused by mutations in the DMD gene, is the most common and most severe progressive dystrophy of the child.
- Conditions
- Muscular Dystrophies, Becker Muscular Dystrophy, Duchenne Muscular Dystrophy
- Trial name
- biodystromirs (NCT02109692)
- Testing
- blood sample
- Where
- France
- Volunteers
- 186 people, healthy volunteers welcome
- Sponsor
- University Hospital, Montpellier
Congenital Bleeding Disorder, Haemophilia A
Investigation of the Pharmacokinetics of NNC172-2021, at Two Different Dose Levels, in Healthy Japanese Subjects
This trial is conducted in Europe. The aim of this trial is to investigate the pharmacokinetics (how the trial drug is distributed in the body) of NNC172-2021 administered subcutaneously, at two different dose levels, in healthy…
- Conditions
- Congenital Bleeding Disorder, Haemophilia A, Haemophilia B, Healthy
- Trial name
- NCT01555749
- Testing
- NNC172-2021
- Where
- United Kingdom
- Volunteers
- 8 people, healthy volunteers welcome
- Sponsor
- Novo Nordisk A/S
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Duchenne Muscular Dystrophy, Upper Limb Function
Pulmonary and Upper Limb Functions in Duchenne Muscular Dystrophy
Although it is known that the functions of pulmonary and upper limb is affected in late stage of Duchenne Muscular Dystrophy (DMD) negatively, the investigators do not have clear information about its early stage.
- Conditions
- Duchenne Muscular Dystrophy, Upper Limb Function, Respiratory Function Test
- Trial name
- NCT03552874
- Testing
- The Performance of Upper Limb Questionnaire (PUL)
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Fragile X Syndrome
Study of Acamprosate in Fragile x Syndrome
In this research study we want to understand the effectiveness of a drug treatment, acamprosate, for interfering symptoms (i.e., inattention/hyperactivity, social impairment) associated with Fragile X Syndrome (FXS).
- Trial name
- NCT01911455
- Testing
- acamprosate
- Where
- 2 sites in United States
- Volunteers
- 46 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Fabry Disease
Autoimmune and Inflammatory Response Biomarkers in Fabry Disease
The goal of this observational study is to understand the immune response in Fabry disease (FD). We want to find out how the immune response is related to the severity of FD and how it affects patients' quality of life and pain.
- Trial name
- Bio-FAIR (NCT06007768)
- Where
- Spain
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y Cajal
Hemophilia, Step
Validity and Reliability of the Two-minute Step Test in Hemophilia
The aim of our study was to evaluate the psychometric properties of the 2-minute step test in hemophilia patients, assess its intra-rater and inter-rater reliability, and evaluate its convergent validity and construct validity…
- Conditions
- Hemophilia, Step, Reliability and Validity, Hemophilia A and B
- Trial name
- NCT07425327
- Where
- Turkey (Türkiye)
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Hasan Kalyoncu University
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD
Longitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.
- Trial name
- NCT02972580
- Testing
- Genetic characterization
- Where
- United States
- Volunteers
- 250 people, healthy volunteers welcome
- Sponsor
- Nationwide Children's Hospital
Rett Syndrome
Functional Abilities in Rett Syndrome
The purpose of this study is to evaluate and determinate the functional abilities in Rett syndrome conforming to the established Pediatric Evaluation of Disability Inventory (PEDI).
- Trial name
- NCT00630422
- Where
- Brazil
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Faculdades Metropolitanas Unidas
Lysosomal Storage Disorders, Gaucher Disease
Investigating Lysosomal Storage Diseases in Minority Groups
Although lysosomal storage disorders, such as Fabry disease, Gaucher disease, and Pompe disease, represent serious challenges in the healthcare system, no study has yet investigated the prevalence of these diseases in the US.
- Conditions
- Lysosomal Storage Disorders, Gaucher Disease, Fabry Disease, Pompe Disease
- Trial name
- NCT02120235
- Where
- United States
- Volunteers
- 20,000 people, healthy volunteers welcome
- Sponsor
- O & O Alpan LLC