Clinical trials: X-Linked
Fragile X Syndrome
CTH120 First-in-Human Study: Single and Multiple Ascending Doses and Potential Food Interaction
The purpose of this First-in-Human Phase I study is to investigate the safety, tolerability and pharmacokinetics of CTH120 in adult healthy volunteers.
- Trial name
- FIH-CTH120 (NCT06480968)
- Testing
- CTH120
- Where
- Spain
- Volunteers
- 76 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Ornithine Transcarbamylase Deficiency
A Study to Assess Plasma Ammonia Time-Normalized Area Under the Curve and Rate of Ureagenesis in Healthy Adult Subjects
The objective of the study is to characterize 24-hour plasma ammonia levels, characterize urea production rates in healthy normal subjects.
- Trial name
- NCT04269122
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- Ultragenyx Pharmaceutical Inc
Bulbo-Spinal Atrophy, X-Linked, Kennedy Disease
MRI in Patients With Kennedy Disease
Kennedy disease is an inherited neuromuscular disorder that is characterized by progressive muscle wasting and weakness. It typically starts with muscle spasms and tremors in the arms, followed by muscle weakness and atrophy of…
- Trial name
- NCT02501395
- Testing
- No intervention, observational
- Where
- Denmark
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Duchenne Muscular Dystrophy
The Evaluation of Muscle Activation in Climbing up Stairs Activity in Children With Duchenne Muscular Dystrophy
Children with Duchenne Muscular Dystrophy (DMD) have difficulties towards the end of the ambulatory period, especially in activities that require lower extremity proximal muscle strength such as walking, climbing stairs, standing…
- Trial name
- NCT04287582
- Testing
- Electromyographic device
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hacettepe University
Hemophilia A, Hemophilia B
A Phase 1 Study of an Investigational Drug, ALN-AT3SC, in Healthy Volunteers and Hemophilia A or B Patients
The purpose of this study is to determine the safety, tolerability, and pharmacokinetics of ALN-AT3SC in healthy volunteers and Hemophilia A or B patients.
- Trial name
- NCT02035605
- Testing
- ALN-AT3SC, Sterile Normal Saline (0.9% NaCl)
- Where
- 14 sites in United States, Bulgaria and 3 more
- Volunteers
- 51 people, healthy volunteers welcome
- Sponsor
- Sanofi
Fabry Disease, Fabry Disease, Cardiac Variant
Fabry Exercise Intolerance Study
Patients and healthy controls will undergo cardiopulmonary exercises and testing of the muscles strength to gain additional understanding of exercise intolerance as Fabry disease (FD) manifestation.
- Trial name
- FEISTY (NCT05413876)
- Testing
- Intermittent cardiopulmonary exercise test, Incremental cardiopulmonary exercise test
- Where
- Netherlands
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Stroke
Effects of Aerobic Exercise on the Cerebral Arterial System, Cognitive, and Motor Function in Post-stroke Patients.
Background: Stroke is the second leading cause of death and disability worldwide and in Hong Kong, 6.2% of all registered deaths in 2020 were due to cerebrovascular disease.
- Trial name
- NCT05706168
- Testing
- treadmill exercise, Cycle ergometer exercise
- Where
- Hong Kong
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- The Hong Kong Polytechnic University
Cerebrovascular Accident, Fabry Disease
Vasodilation in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme alpha-galactosidase A. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Conditions
- Cerebrovascular Accident, Fabry Disease, Healthy
- Trial name
- NCT00001774
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy
Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy
The purpose of this study was to understand the epidemiological status of Fabry in patients with hypertrophic cardiomyopathy or left ventricular hypertrophy through multi-center early identification of high-risk patients in…
- Conditions
- Hypertrophic Cardiomyopathy, Left Ventricular Hypertrophy, Fabry Disease
- Trial name
- SEARCH (NCT06169358)
- Where
- China
- Volunteers
- 627 people, healthy volunteers welcome
- Sponsor
- Qilu Hospital of Shandong University
Fabry Disease
Neuropathic Pain and Fabry Disease
Fabry disease is a rare X-linked lysosomal storage disorder. The mutations result in a deficiency of the lysosomal enzyme α-galactosidase causing accumulation of glycosphingolipids in the vascular endothelial cells and many other…
- Trial name
- NCT00168974
- Where
- Denmark
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Danish Pain Research Center
Libido, Receptors, Androgen
Genetic Polymorphism of the Androgen Receptor-Gene and Sexual Function in Middle Aged Women
It is known that with increasing age sexual desire is declining in women. Decreasing levels of androgens are believed to have an influence, but cannot explain the loss of libido completely.
- Conditions
- Libido, Receptors, Androgen, Polymorphism, Genetic, Androgen Effect
- Trial name
- CAG-Libido (NCT01977313)
- Where
- Switzerland
- Volunteers
- 45 people, healthy volunteers welcome
- Sponsor
- Insel Gruppe AG, University Hospital Bern
Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS
Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity
Background: Androgen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene).
- Conditions
- Androgen Insensitivity Syndrome, Metabolic Parameters in AIS, CAIS, PAIS and MAIS, Tumor Formation in AIS, CAIS, PAIS and MAIS, Sexual Function AIS, CAIS, PAIS and MAIS
- Trial name
- NCT04708431
- Where
- United States
- Volunteers
- 650 people, healthy volunteers welcome
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Healthy Participants, Hemophilia A
A Study of Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SR604 in Two Participants Groups (Part A: Healthy Participants, and Part B: Participants With Hemophilia A or Hemophilia B or Factor VII Deficiency)
The purpose of this study is to evaluate the safety, tolerability, pharmacokinetics (PK), and pharmacodynamic (PD) of SR604 in healthy participants (Part A) and to evaluate the safety, tolerability, PK, PD, and efficacy of SR604…
- Conditions
- Healthy Participants, Hemophilia A, Hemophilia B, Factor VII Deficiency
- Trial name
- NCT06349473
- Testing
- SR604
- Where
- 10 sites in United States, Canada
- Volunteers
- 31 people, healthy volunteers welcome
- Sponsor
- Equilibra Bioscience LLC
Epiretinal Membrane
Epiretinal Membrane in Patients With DR.
To report the prevalence of ERM among patients with diabetic retinopathy, and the possible associated risk factors.
- Trial name
- NCT07241845
- Testing
- OCT
- Volunteers
- 225 people, healthy volunteers welcome
- Sponsor
- Assiut University
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Ramipril Versus Carvedilol in Duchenne and Becker Patients
Data on preventive therapy in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) affected individuals without cardiac involvement are very limited and currently lacking regard both ACE-inhibitors and…
- Trial name
- NCT00819845
- Testing
- carvedilol, ramipril
- Where
- Italy
- Volunteers
- 194 people, healthy volunteers welcome
- Sponsor
- Catholic University, Italy
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Congenital Bleeding Disorder, Haemophilia A
A Single Dose Trial Investigating Safety and Local Tolerability of Ascending Doses of Long Acting Activated Recombinant Human Factor VII in Healthy Male Volunteers
This trial is conducted in Europe. The aim of this clinical trial is to investigate the safety, local tolerability and pharmacokinetic profile (the determination of the concentration of the administered medication in blood over…
- Conditions
- Congenital Bleeding Disorder, Haemophilia A, Haemophilia B, Healthy
- Trial name
- NCT00951873
- Testing
- activated recombinant human factor VII, long acting
- Where
- United Kingdom
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Novo Nordisk A/S
Spinal Muscular Atrophy Type 3, Duchenne Muscular Dystrophy (DMD)
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.
- Trial name
- NCT06839469
- Where
- 3 sites in United States
- Volunteers
- 106 people, healthy volunteers welcome
- Sponsor
- Columbia University
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Spinal and Bulbar Muscular Atrophy, Healthy Subjects
High Intensity Training in Patients With Spinal and Bulbar Muscular Atrophy
We want investigate if high intensity training can increase daily functionality without causing muscle damage in patients Spinal and Bulbar Muscular Atrophy .
- Trial name
- HIT in Kennedy (NCT02156141)
- Testing
- Supervised high intensity training, Optional training, Control period
- Where
- Denmark
- Volunteers
- 10 people, healthy volunteers welcome
- Sponsor
- Karen Brorup Heje Pedersen