Clinical trials: X-Linked
Duchenne Muscular Dystrophy
Evaluation of Brain Dysfunction in Patients with Duchene Muscular Dystrophy
To study the cognitive function \& psychiatric aspects of patients with DMD by specific psychometry tests \& its relation to quality of life of the patients To evaluate brain structural changes using MRI and correlate them to the…
- Trial name
- NCT06732011
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Assiut University
Hemophilia a, Hemophilia B
The Safety and Tolerability of SerpinPC in Healthy Men and in Men with Severe Blood Disorders (haemophilia a and B)
The purpose of this study is to investigate the safety and activity in the body of a new drug called SerpinPC. The study will be split into 7 parts: Part 1a will be conducted in healthy male volunteers in the UK (up to 15) and…
- Trial name
- NCT04073498
- Testing
- SerpinPC
- Where
- 3 sites in Georgia, Moldova and 1 more
- Volunteers
- 39 people, healthy volunteers welcome
- Sponsor
- ApcinteX Ltd
Hypohidrotic Ectodermal Dysplasia
Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A
The overall purpose of this study is to learn more about Hypohidrotic Ectodermal Dysplasia (HED) and to help in identifying treatment opportunities.
- Trial name
- NCT01293565
- Where
- United States
- Volunteers
- 27 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Parkinson Disease, Huntington Disease
A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions
Measurement of metabotropic glutamate receptor type 5 (mGluR5) binding capacity in the brain, may be a valuable tool in the early detection, understanding, or evaluation of Parkinson disease (PD), Huntington disease (HD), Fragile…
- Conditions
- Parkinson Disease, Huntington Disease, Autistic Spectrum Disorders, Fragile X Syndrome
- Trial name
- FPEB (NCT00870974)
- Testing
- [18F]FPEB
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Institute for Neurodegenerative Disorders
X-Linked Hypohidrotic Ectodermal Dysplasia
Sweat Duct Imaging in Mother/Newborn Dyads
The purpose of this study is to evaluate sweat duct number on the plantar surface of newborn infants using a non-invasive confocal microscopy device.
- Trial name
- NCT01342133
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Autism Spectrum Disorder, Fragile X Syndrome
Speech-in-noise Perception in Autism and Fragile X
The goal of this study is to identify which brain regions are active during speech-in-noise perception, as well as how those regions interact.
- Trial name
- NCT06088589
- Testing
- Mismatch negativity
- Where
- United States
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Adrenoleukodystrophy
Newborn Screening for Adrenoleukodystrophy
To test if the routine newborn screening dried blood spots can be used to test if elevation of C26:0 lysophosphatidylcholine (C26:0-lyso-PC), a status indicating adrenoleukodystrophy (ALD)
- Trial name
- NCT02952482
- Testing
- newborns testing for ALD
- Where
- Taiwan
- Volunteers
- 45,796 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
Osteogenesis Imperfecta, Rare Bone Disorders
Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
MOSAIC aims to determine whether oro-dental morphological anomalies, particularly palatal morphology, associated with rare bone and cartilage diseases can be precisely characterized using 3D digital models analysed through…
- Conditions
- Osteogenesis Imperfecta, Rare Bone Disorders, Hypophosphatemia, X-Linked
- Trial name
- MOSAIC (NCT07666269)
- Testing
- intra-oral 3D optical impression
- Where
- France
- Volunteers
- 240 people, healthy volunteers welcome
- Sponsor
- University Hospital, Bordeaux
Down Syndrome (Trisomy 21), Fragile X Syndrome (FXS)
The Neurocognitive Bases of Trust in Intellectual Disability
This project studies the neurocognitive basis of trust adjustment in intellectual disability (ID), a source of significant vulnerability for these patients, focusing on two target populations chosen for their specific social…
- Trial name
- BNConfDI (NCT07434037)
- Testing
- Confidence adjustment assessment, clinical assessment, Cognitive assessment
- Where
- France
- Volunteers
- 112 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Healthy, Fragile X Syndrome
Aromatase Activity and Ovarian Growth Factors in African-American Versus Caucasian Women
The purpose of the study is to understand how the ovarian follicle (the fluid filled structure in the ovary that contains the egg) makes estrogen and other hormones during normal aging, in women with different ethnic backgrounds…
- Trial name
- NCT00334971
- Testing
- Follicle Aspiration
- Where
- United States
- Volunteers
- 116 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Neurodegenerative Diseases, Leukodystrophy
Home Exercise for Individuals With Neurodegenerative Disease
The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.
- Conditions
- Neurodegenerative Diseases, Leukodystrophy, Ataxia, LBSL
- Trial name
- NCT05443906
- Testing
- Home exercise
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Thrombosis
Reversibility of Apixaban Anticoagulation With the Four Factor Prothrombin Complex Concentrate Kcentra
Apixaban is an anticoagulant (also known as blood thinner) approved by the Food and Drug Administration (FDA) for reducing the risk of stroke and systemic embolism in patients with non-valvular atrial fibrillation.
- Trial name
- 4PAR (NCT02270918)
- Testing
- Kcentra, Apixaban
- Where
- United States
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Thomas Jefferson University
Fragile X Syndrome
Tracking Early Emergence of Sound Perception Impairments in FXS With Multimodal fNIRS/EEG-Preschool Age
Individuals with Fragile X Syndrome show differences in how they understand and learn language from infancy. They frequently have lifelong delays in speech and language as well.
- Trial name
- NCT05957549
- Testing
- Speech discrimination
- Where
- United States
- Volunteers
- 90 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Rett Syndrome
Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome
This observational research study is designed to learn more about how the brain processes sound in individuals with Rett syndrome.
- Trial name
- NCT07569445
- Testing
- Electroencephalogram (EEG) Recording
- Where
- United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- University of Rochester
Duchenne Muscular Dystrophy, Musculoskeletal Abnormalities
Pediatric Radio Frequency Coils Generic
The purpose of this study is to evaluate and optimize advances in radio frequency (RF) coil magnetic resonance imaging (MRI) technology at Cincinnati Children's Hospital Medical Center (CCHMC).
- Trial name
- NCT01633866
- Where
- United States
- Volunteers
- 75 people, healthy volunteers welcome
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Duchenne Muscular Dystrophy (DMD)
To Compare the Pharmacokinetics Profiles of ISO 20, IBU 200 and IBU Plus ISO Combinations 200 + 20
This study will evaluate the pharmacokinetics plasma profile of 3 treatments: ISO 20, IBU 200 and IBU and ISO combinations (200 +20) given in single dose.
- Trial name
- ISOFEN1 (NCT01478022)
- Testing
- Isosorbide Dinitrate, Ibuprofen, Ibuprofen and Isosorbide Dinitrate combination
- Where
- Italy
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Parent Project, Italy
Duchenne Muscular Dystrophy, Muscular Dystrophies
Non-invasive Imaging of Muscle Structure in Duchenne Muscular Dystrophy Using Multispectral Optoacoustic Tomography
This pilot study aims to assess subcellular muscle structure in patients with Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) in comparison to healthy volunteers using multispectral optoacoustic tomography (MSOT).
- Conditions
- Duchenne Muscular Dystrophy, Muscular Dystrophies, Muscular Dystrophy, Duchenne
- Trial name
- MSOT_DMD (NCT03490214)
- Testing
- Multispectral Optoacoustic Tomography
- Where
- Germany
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of Erlangen-Nürnberg Medical School
X-linked Adrenoleukodystrophy
Validation of a Prognostic Biomarker Using Brain Diffusion MRI in X-linked Adrenoleukodystrophy
CALD is an inflammatory demyelinating disease that causes severe motor and cognitive deficit leading to rapid death. Hematopoietic stem cell transplantation (HSCT) can halt neuroinflammation in CALD through the replacement of…
- Trial name
- CALDIFF (NCT05911919)
- Testing
- brainQuant module of brainTale-care platform
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
X-linked Agammaglobulinemia, XLA
COVID-19 Vaccine Responses in PIDD Subjects
The goal of our study is to assess the cellular immune responses of participants with antibody deficiency disease before and after immunization with SARS-CoV-2 mRNA vaccines.
- Conditions
- X-linked Agammaglobulinemia, XLA, Primary Immune Deficiency, CVID
- Trial name
- NCT05321407
- Where
- 3 sites in United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Duke University
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
The purpose of this research study is to determine the potential of magnetic resonance imaging, spectroscopy, and whole body imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials…
- Trial name
- NCT01484678
- Where
- 3 sites in United States
- Volunteers
- 550 people, healthy volunteers welcome
- Sponsor
- University of Florida