Clinical trials: X-Linked
Liposarcoma, Leiomyosarcoma
Efficacy Study on Trabectedin in Retroperitoneal Leiomyosarcoma and Well Differentiated/Dedifferentiated Liposarcoma
This is an Italian, multicentre, single arm, phase II study, with an intra-patient comparison end point. This study aims at confirming the activity of the drug trabectedin as second/further line treatment in retroperitoneal…
- Trial name
- TRAVELL (NCT02247544)
- Testing
- Trabectedin
- Where
- 21 sites in Italy
- Volunteers
- 105 people
- Sponsor
- Italian Sarcoma Group
Duchenne Muscular Dystrophy
An Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)
The main purposes of this study are to see if it is safe to use a new medication called vamorolone for more than two weeks in children with Duchenne muscular dystrophy (DMD), to see if vamorolone works for the treatment for DMD…
- Trial name
- NCT02760277
- Testing
- Vamorolone 0.25 mg/day/day, Vamorolone 0.75 mg/day/day, Vamorolone 2.0 mg/day/day
- Where
- 12 sites in United States, Australia and 4 more
- Volunteers
- 48 people
- Sponsor
- ReveraGen BioPharma, Inc.
Duchenne Muscular Dystrophy, Gait Disorders in Children
Development of a New Instrument to Evaluate Gait Characteristics of Individuals With Duchenne Muscular Dystrophy
The aim of this study was to develop a gait assessment instrument for Duchenne Muscular Dystrophy patients (DMD-GAS), and investigate its validity and reliability.The scale was developed considering the expert opinions which…
- Conditions
- Duchenne Muscular Dystrophy, Gait Disorders in Children, Gait Disorders, Neurologic
- Trial name
- NCT05244395
- Testing
- Duchenne Muscular Dystrophy Gait Assessment Scale
- Where
- Turkey (Türkiye)
- Volunteers
- 56 people
- Sponsor
- Hacettepe University
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Cardiomyopathy, Hypertrophic, Dilated Cardiomyopathy
UTSW HP [13-C] Pyruvate Injection in HCM
The study objective is to identify the earliest changes in energy substrate metabolism in patients with cardiomyopathies (CMP). To achieve this objective, we plan first to test the hypothesis that patients with CMP present focal…
- Conditions
- Cardiomyopathy, Hypertrophic, Dilated Cardiomyopathy, Duchenne Muscular Dystrophy, Cardiac Sarcoidosis
- Trial name
- HPHCM (NCT03057002)
- Testing
- Hyperpolarized 13C-Pyruvate
- Where
- United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- University of Texas Southwestern Medical Center
Urea Cycle Disorder
UNLOCKED: A Phase 2, Open-label Trial With KB195 in Subjects With a Urea Cycle Disorder
UNLOCKED: A Phase 2 Trial to Evaluate the Efficacy and Safety of KB195 in Subjects with a Urea Cycle Disorder with Inadequate Control on Standard of Care
- Trial name
- UNLOCKED (NCT03933410)
- Testing
- KB195
- Where
- 19 sites in United States, Belgium and 5 more
- Volunteers
- 13 people
- Sponsor
- Kaleido Biosciences
Duchenne Muscular Dystrophy
A Study of ATL1102 or Placebo in Participants With Non-ambulatory Duchenne Muscular Dystrophy
This Phase IIb study is a two part, multicenter study to evaluate the efficacy, safety, pharmacokinetics and pharmacodynamics of ATL1102 in non-ambulant boys with Duchenne Muscular Dystrophy aged 10 to <18 years old.
- Trial name
- NCT05938023
- Testing
- ATL1102 25mg, ATL1102 50mg
- Where
- 13 sites in Australia, Bulgaria and 3 more
- Volunteers
- 48 people
- Sponsor
- Percheron Therapeutics
Duchenne Muscular Dystrophy
Historically Controlled Trial of Corticosteroids in Young Boys With Duchenne Muscular Dystrophy
While it has been known for many years that corticosteroid use benefits boys with Duchenne Muscular dystrophy (DMD), most clinicians do not consider treating until after age 3 or 4 years of age.
- Trial name
- NCT02167217
- Testing
- Prednisolone
- Where
- 6 sites in United States
- Volunteers
- 25 people
- Sponsor
- Washington University School of Medicine
Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs.
- Conditions
- Neuroendocrine Neoplasm, Neuroendocrine Neoplasm of Gastrointestinal Tract, Neuroendocrine Neoplasm of Lung, Thymic Neuroendocrine Neoplasm
- Trial name
- NCT06523582
- Where
- 3 sites in Mexico
- Volunteers
- 750 people, healthy volunteers welcome
- Sponsor
- Universidad Nacional Autonoma de Mexico
Severe Combined Immunodeficiency Disease, X-linked
Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants
SCID-X1 is a genetic disorder of blood cells caused by DNA changes in a gene that is required for the normal development of the human immune system.
- Trial name
- LVXSCID-ND (NCT01512888)
- Testing
- CL20-i4-EF1α-hγc-OPT, Busulfan, CliniMacs
- Where
- 3 sites in United States
- Volunteers
- 28 people
- Sponsor
- St. Jude Children's Research Hospital
BRCA1 Mutation, High-grade Serous Ovarian Cancer
Breast Cancer BRCA1 Carriers: a Pilot Study
The purpose of this study is to examine how a single dose of MIFEPREX® (mifepristone) affects the breast tissue in patients with BRCA1 (a gene that normally acts to restrain the growth of cells in the breast, but if it mutates…
- Conditions
- BRCA1 Mutation, High-grade Serous Ovarian Cancer, TNBC - Triple-Negative Breast Cancer
- Trial name
- NCT05062174
- Testing
- Mifepristone 200 MG, Prophylactic mastectomy
- Where
- 2 sites in United States
- Sponsor
- Indiana University
X-Linked Hypophosphataemia
A UK Multicentre, Health-Related Quality of Life Study for Children and Adolescents With XLH
This study aims to provide Health-related Quality of Life (HRQoL) data from children and adolescents with growing skeletons in the United Kingdom (UK), including those treated with burosumab or alternative XLH treatment, as part…
- Trial name
- NCT04819490
- Where
- 6 sites in United Kingdom
- Volunteers
- 32 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Fabry Disease
Study to Evaluate the Safety and EffIcacy of PRX-102 on Gastrointestinal Symptoms in Naïve Fabry Disease
The study will be a randomized, double blind, placebo-controlled study of the safety and efficacy of PRX-102 in ERT naïve male patients randomized 1:1. Patient age will be 14 to 45 years.
- Trial name
- NCT02921620
- Testing
- PRX-102
- Sponsor
- Protalix
X Linked Myotubular Myopathy
Tamoxifen Therapy for Myotubular Myopathy
This is a phase 1 / 2, randomized, double-blinded, single cross-over study, with a washout period between treatment regimens, to test the efficacy and safety of tamoxifen therapy to improve motor and respiratory function in males…
- Trial name
- TAM4MTM (NCT04915846)
- Testing
- ApoTamox 10mg
- Where
- 4 sites in United States, Canada and 1 more
- Volunteers
- 6 people
- Sponsor
- James Dowling
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
Duchenne Muscular Dystrophy
A Device for Rapid, Painless, Bedside Muscle Evaluation of Children
The purpose of this protocol is to perform Electrical Impedance Myography (EIM) testing on healthy children and children with duchenne muscular dystrophy so as to develop a new, convenient tool for the office based assessment of…
- Trial name
- NCT02340923
- Where
- 5 sites in United States
- Volunteers
- 327 people, healthy volunteers welcome
- Sponsor
- Skulpt, Inc.
Motor Neuron Disease
Effect of Functional Exercise in Patients With Spinal Bulbar Muscular Atrophy
Background: -Spinal and bulbar muscular atrophy (SBMA) is an inherited disorder that affects men. People with SBMA often have weakness throughout the body, including the muscles they use for swallowing, breathing, and speaking.
- Trial name
- NCT01369901
- Testing
- A functional exercise program, A stretching exercise program
- Where
- United States
- Volunteers
- 61 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Muscular Dystrophy, Duchenne Type
Trunk Oriented Exercises Versus Whole-body Vibration for Duchenne Muscular Dystrophy
The abdominal muscles play an important role in stabilizing the trunk and providing postural stability. Children with Duchene muscular dystrophy have weak muscles, which may impair postural adjustments.
- Trial name
- NCT05688072
- Testing
- trunk oriented exercise, whole body vibration
- Where
- Egypt
- Volunteers
- 30 people
- Sponsor
- Cairo University
Rett Syndrome
Metabolic Evaluation of Nutrition in Rett Syndrome
Rett syndrome (RTT) is an X-linked severe neurodevelopmental disorder. Despite their good appetite, many females with RTT meet the criteria for moderate to severe malnutrition. The pathological mechanism is barely understood.
- Trial name
- NCT00786071
- Where
- Netherlands
- Volunteers
- 13 people
- Sponsor
- Maastricht University Medical Center
Hypohidrotic Ectodermal Dysplasia
Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation
This study in affected Hypohidrotic Ectodermal Dysplasia (HED) males and unaffected male controls, age 1 year and up, will use minimally invasive devices to image sweat ducts in intact skin, to measure stimulated sweat rate, and…
- Trial name
- NCT01386775
- Where
- United States
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
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