Clinical trials: X-Linked
X-linked Myotubular Myopathy
A Long-term Follow-up Study in Male Participants With X-linked Myotubular Myopathy Treated With ASP2957
X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM.
- Trial name
- NCT07876804
- Testing
- ASP2957
- Volunteers
- 9 people
- Sponsor
- Astellas Gene Therapies
Muscular Dystrophy, Duchenne
A Study of Tadalafil for Duchenne Muscular Dystrophy
The main purpose of this study is to determine if tadalafil can slow the decline in walking ability of boys who have Duchenne muscular dystrophy (DMD).
- Trial name
- NCT01865084
- Testing
- Tadalafil
- Where
- 62 sites in United States, Argentina and 14 more
- Volunteers
- 331 people
- Sponsor
- Eli Lilly and Company
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
EPP, XLP
Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Subjects With Erythropoietic Protoporphyria or X-Linked Protoporphyria
The primary objective of this study is to investigate the efficacy of MT-7117 on time to onset and severity of first prodromal symptoms (burning, tingling, itching, or stinging) associated with sunlight exposure in adults and…
- Trial name
- NCT04402489
- Testing
- MT-7117 Low Dose, MT-7117 High Dose
- Where
- 31 sites in United States, Australia and 8 more
- Volunteers
- 184 people
- Sponsor
- Tanabe Pharma America, Inc.
Septic Shock, Sepsis
Effects of Dexmedetomidine on Sublingual Microcirculation and Vascular Waterfall Phenomenon in Patients With Septic Shock
This prospective, multicenter, single-arm, open-label interventional pilot study aims to evaluate the short-term physiological effects of intravenous dexmedetomidine on sublingual microcirculation and vascular-waterfall…
- Conditions
- Septic Shock, Sepsis, Critical Illness
- Trial name
- DEX-MICRO (NCT07657715)
- Testing
- Dexmedetomidine Intravenous Infusion
- Where
- 2 sites in China
- Volunteers
- 20 people
- Sponsor
- First Affiliated Hospital of Wannan Medical College
Haemostasis, Congenital Bleeding Disorder
Bridging Hemophilia B Experiences, Results and Opportunities Into Solutions (B-HERO-S)
This study is conducted in the United States of America (USA). Tha aim of this study is bridging Hemophilia B Experiences, Results and Opportunities into Solutions (B-HERO-S).
- Conditions
- Haemostasis, Congenital Bleeding Disorder, Haemophilia B
- Trial name
- NCT02568202
- Testing
- No treatment given
- Where
- United States
- Volunteers
- 449 people
- Sponsor
- Novo Nordisk A/S
Adrenomyeloneuropathy Form (AMN) of X-linked Adrenoleukodystrophy (X-ALD)
A Study to Assess the Pharmacodynamics of VK0214 in Male Subjects With AMN
Subjects will be administered multiple doses of VK0214 in a cohort dose escalation process. A total of up to 36 subjects will be enrolled in the study, into one of three dose cohorts.
- Trial name
- NCT04973657
- Testing
- VK0214
- Where
- 9 sites in United States, France and 3 more
- Volunteers
- 24 people
- Sponsor
- Viking Therapeutics, Inc.
Duchenne Muscular Dystrophy (DMD)
An Open-label Long-term Follow-up Study of SAT-3247 for Participants With Duchenne Muscular Dystrophy Including Those Who Participated in SAT-3247-CL-101
This is an open-label long-term safety and efficacy study of orally administered SAT-3247 in patients with DMD including those who previously participated in SAT-3247-CL-101.
- Trial name
- NCT06867107
- Testing
- SAT-3247
- Where
- 6 sites in United States, Australia
- Volunteers
- 30 people
- Sponsor
- Satellos Bioscience, Inc.
Fabry Disease
Fabry Aim Children Early (ACE) Project
The purpose of this study is to assess the frequency of Fabry disease in children with early symptoms.
- Trial name
- NCT04965467
- Testing
- Screening for Fabry disease
- Where
- 21 sites in China
- Sponsor
- Children's Hospital of Fudan University
Muscular Dystrophies
A Clinical Study to Assess Two Doses of GSK2402968 in Subjects With Duchenne Muscular Dystrophy (DMD)
The purpose of this study is to determine if GSK2402968 is effective in the treatment of ambulant boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.
- Trial name
- DMD114876 (NCT01462292)
- Testing
- GSK2402968 3mg/kg/week, GSK2402968 6 mg/kg/week
- Where
- 14 sites in United States
- Volunteers
- 51 people
- Sponsor
- GlaxoSmithKline
X-Linked Lymphoproliferative Disease, Lymphoproliferative Disease
Genetic Studies of X-linked Lymphoproliferative Disease
This study will study the effects of the gene on the X chromosome that is associated with X-linked lymphoproliferative disease (XLPD)-an inherited disease affecting the immune system-on the function of the immune system.
- Conditions
- X-Linked Lymphoproliferative Disease, Lymphoproliferative Disease, Genetic Diseases, X-Linked
- Trial name
- NCT00359411
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Adrenoleukodystrophy
Clinical Study and Gene Mutation Analysis of Adrenoleukodystrophy in Taiwanese Children
Study the clinical manifestations and gene mutation of Taiwanese ALD patients
- Trial name
- NCT00278044
- Testing
- blood sampling and medical records
- Where
- Taiwan
- Volunteers
- 20 people
- Sponsor
- Far Eastern Memorial Hospital
Duchenne Muscular Dystrophy
Physical Activity Level of Norwegian Boys with Duchenne Muscular Dystrophy
The aim of this population based study is to examine, quantify and describe physical activity level in Norwegian boys with DMD, and to compare the level of physical activity level between boys with DMD and age matched healthy…
- Trial name
- NCT03947112
- Testing
- Physical activity registration
- Where
- Norway
- Volunteers
- 28 people
- Sponsor
- Haukeland University Hospital
X-linked Adrenoleukodystrophy
SMART-ALD - A New Lifestyle Intervention to Improve Quality of Life in Women With X-linked Adrenoleukodystrophy (X-ALD)
X-linked Adrenoleukodystrophy (X-ALD) is one of the most frequent inborn error of metabolism caused by mutations in the ABCD1 gene, which codes for the transporter of saturated very long-chain fatty acids (VLCFA) for peroxisomal…
- Trial name
- NCT04687007
- Testing
- SMART-ALD, Waiting list
- Where
- 2 sites in Germany
- Volunteers
- 68 people
- Sponsor
- Leipzig University Medical Center
Duchenne Muscular Dystrophy
Expanded Access Protocol for Boys With Duchenne Muscular Dystrophy
The intent of this protocol is to provide continued access to vamorolone for subjects in the United States and Canada who have completed the VBP15-LTE, VBP15- 004, or VBP15-006 protocols (and are thereby ineligible to enroll in…
- Trial name
- NCT03863119
- Testing
- Vamorolone
- Where
- 12 sites in United States, Canada and 1 more
- Sponsor
- Santhera Pharmaceuticals
Fragile X Syndrome (FXS)
Decisional Capacity and Informed Consent in Fragile X Syndrome
The Decisional Capacity and Informed Consent in Fragile X Syndrome (FXS) project is for the Eunice Kennedy Shriver National Institute of Child Health \& Human Development, 1R01HD071987-01A1, and will provide the first…
- Trial name
- NCT02465931
- Testing
- Paper and Pencil Informed Consent, Digital Informed Consent Tool
- Where
- United States
- Volunteers
- 152 people
- Sponsor
- RTI International
Hurler Syndrome (MPS I), Hurler-Scheie Syndrome
Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders
The goal of this research study is to establish chimerism and avoid graft-versus-host-disease (GVHD) in patients with inherited metabolic disorders.
- Conditions
- Hurler Syndrome (MPS I), Hurler-Scheie Syndrome, Hunter Syndrome (MPS II), Sanfilippo Syndrome (MPS III)
- Trial name
- NCT01372228
- Testing
- hematopoietic stem cell infusion
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Talaris Therapeutics Inc.
Erythropoietic Protoporphyria, EPP
Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact
The initial objective of this protocol is to assemble a well-documented group of patients with confirmed diagnoses of the erythropoietic protoporphyrias, including autosomal recessive Erythropoietic Protoporphyria (EPP) and…
- Conditions
- Erythropoietic Protoporphyria, EPP, X-Linked Protoporphyria, XLP
- Trial name
- NCT01688895
- Where
- 6 sites in United States
- Volunteers
- 150 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Choroideremia
Efficacy and Safety of BIIB111 for the Treatment of Choroideremia
The objective of the study is to evaluate the efficacy and safety of a single sub-retinal injection of BIIB111 in participants with choroideremia (CHM).
- Trial name
- STAR (NCT03496012)
- Testing
- BIIB111
- Where
- 18 sites in United States, Canada and 6 more
- Volunteers
- 169 people
- Sponsor
- Biogen
Fabry Disease
Characterisation of Heart Involvement in Fabry Disease With T1 Mapping
Fabry disease is a rare lysosomal storage disorder characterised by a genetic deficiency in the α-galactosidase enzyme. This deficiency leads to a progressive accumulation of a fatty substance, called glycosphingolipids within a…
- Trial name
- T1 (NCT04708301)
- Testing
- T1 mapping
- Where
- United Kingdom
- Volunteers
- 200 people
- Sponsor
- Manchester University NHS Foundation Trust
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