Clinical trials: X-Linked
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.
Rett Syndrome, RTT
The Diagnostic Experience of Male Rett Syndrome
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome.
- Trial name
- NCT06346106
- Testing
- Male Rett
- Where
- United States
- Volunteers
- 80 people
- Sponsor
- Children's Hospital Colorado
Fragile X Syndrome
Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome
The purpose of this study is to determine whether the medication oxytocin is an effective and tolerable treatment in adolescent males with fragile X syndrome (FraX) for improving socially appropriate behaviors and reducing social…
- Trial name
- NCT01254045
- Testing
- oxytocin 24IU, oxytocin 48IU
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Stanford University
X-Linked Adrenoleukodystrophy
Safety, Pharmacokinetics and Pharmacodynamics of NV1205 in Pediatric Male Subjects With Adrenoleukodystrophy
This is a phase I/II, open label dose escalation study of multiple dose levels of NV1205 with a long-term treatment phase.
- Trial name
- NCT03196765
- Testing
- Sobetirome (NV1205)
- Where
- 13 sites in Argentina, Australia and 6 more
- Sponsor
- NeuroVia, Inc.
Neuromuscular Diseases, Duchenne Muscular Dystrophy
Effects of Fear of Falling on Physical Performance and Quality of Life in Children With Duchenne Muscular Dystrophy
For ambulatory children with DMD, physiotherapy is aimed at protecting ambulation, improving motor performance to the best level and increasing quality of life.
- Conditions
- Neuromuscular Diseases, Duchenne Muscular Dystrophy, Dystrophy, Dystrophy, Muscular
- Trial name
- NCT03507530
- Testing
- Assessments
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people
- Sponsor
- Canan İpek
Fabry Disease, Gaucher Disease
Complement Activation in the Lysosomal Storage Disorders
The lysosomal storage disorders (LSDs) are monogenic disorders associated with inflammation affecting multiple organs, and early death.
- Conditions
- Fabry Disease, Gaucher Disease, Niemann-Pick Disease, Type C, Lysosomal Storage Diseases
- Trial name
- CATALYST (NCT04189601)
- Testing
- Complement measurements
- Where
- Australia
- Volunteers
- healthy volunteers welcome
- Sponsor
- Melbourne Health
Haemophilia A, Haemophilia A With Inhibitors
A Study Following People With Haemophilia A and B, With or Without Inhibitors, When on Usual Treatment (Explorer™6)
This study will collect data on bleeds and data related to quality of life in people with severe congenital (a disease existing from birth) haemophilia A and B, with or without inhibitors.
- Conditions
- Haemophilia A, Haemophilia A With Inhibitors, Haemophilia B, Haemophilia B With Inhibitors
- Trial name
- explorer™6 (NCT03741881)
- Testing
- No treatment given
- Where
- 143 sites in United States, Algeria and 34 more
- Volunteers
- 231 people
- Sponsor
- Novo Nordisk A/S
Rett Syndrome, MECP2 Duplication dIsorder
Natural History of Rett Syndrome & Related Disorders
The purpose of this study is to advance understanding of the natural history of Rett syndrome (RTT), MECP2-duplication disorder (MECP2 Dup), CDKL5, FOXG1, and individuals with MECP2 mutations who do not have RTT including the…
- Conditions
- Rett Syndrome, MECP2 Duplication dIsorder, CDKL5 Disorder, FOXG1 Syndrome
- Trial name
- NCT02738281
- Where
- 14 sites in United States
- Volunteers
- 1,044 people
- Sponsor
- University of Alabama at Birmingham
Duchenne Muscular Dystrophy
Study of Eteplirsen in Young Participants With Duchenne Muscular Dystrophy (DMD) Amenable to Exon 51 Skipping
This is a multicenter, open-label, dose-escalation study to evaluate the safety, tolerability, and PK of once-weekly IV infusions of eteplirsen in approximately 12 male participants, ages 6 months to 48 months (inclusive), who…
- Trial name
- NCT03218995
- Testing
- Eteplirsen
- Where
- 4 sites in Belgium, France and 2 more
- Volunteers
- 15 people
- Sponsor
- Sarepta Therapeutics, Inc.
Pelizaeus-Merzbacher Disease
Rocket Study: A Study to Characterize Biomarkers and Disease Progression in Participants With Pelizaeus-Merzbacher Disease
The purpose of the study is to prospectively assess longitudinal changes in proteolipid protein 1 (PLP1) protein, disease-related biomarkers in cerebral spinal fluid (CSF) and blood, neuroimaging parameters relevant to…
- Trial name
- NCT05659901
- Where
- 10 sites in United States, France and 5 more
- Volunteers
- 32 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Duchenne Muscular Dystrophy
Plus Epicatechin Duchenne Muscular Dystrophy in Non-ambulatory Adolescents
This single center open-label pilot study will enroll 15 non-ambulatory children with Duchenne muscular dystrophy at least 8 years of age and who demonstrate pre-clinical cardiomyopathy (defined as a cardiac ejection fraction…
- Trial name
- NCT02964377
- Testing
- (+)- Epicatechin
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Craig McDonald, MD
Haemophilia A, Haemophilia B
Safety of Intraosseous Anaesthesia in Children With Haemophilia
Effective local anaesthesia is essential for safe and comfortable dental treatment in children with haemophilia. However, conventional nerve block techniques, particularly inferior alveolar nerve block, carry an increased risk of…
- Conditions
- Haemophilia A, Haemophilia B, Dental Caries
- Trial name
- NCT07916467
- Testing
- Intraosseous Anaesthesia
- Where
- Turkey (Türkiye)
- Volunteers
- 20 people
- Sponsor
- Ankara Yildirim Beyazıt University
Duchenne Muscular Dystrophy, Performance
Regression of Hamstring Flexibility and Performance in Children With Duchenne Muscular Dystrophy
Investigator investigated that regression of hamstring flexibility and performance in children with Duchenne Muscular Dystrophy.
- Conditions
- Duchenne Muscular Dystrophy, Performance, Flexibility
- Trial name
- NCT03589612
- Where
- Turkey (Türkiye)
- Volunteers
- 60 people
- Sponsor
- Hacettepe University
Muscular Dystrophy, Duchenne
Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy
This study will help to determine the effectiveness of glutamine and creatine as a possible therapy for DMD. Boys with DMD who are enrolled in this trial will be randomly chosen to receive creatine monohydrate or glutamine or an…
- Trial name
- NCT00016653
- Testing
- Creatine Monohydrate, Glutamine
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- Cooperative International Neuromuscular Research Group
Haemophilia B
Observatory of Patients With Haemophilia B Treated by IdElvion®
OrPHEe is a non-interventional, prospective and national study which aim is to record real life data in haemophilia B French patients treated with Idelvion® to confirm the efficacy and safety of this product established in…
- Trial name
- OrPHEe (NCT05086575)
- Where
- 28 sites in France
- Volunteers
- 222 people
- Sponsor
- CSL Behring
Fabry Disease
Study to Evaluate the Safety, PK, PD, and Efficacy of PRX-102 in Japanese Patients With Fabry Disease
The aim of this study is to evaluate the safety and efficacy of pegunigalsidase alfa in Japanese patients (adults and adolescents) affected by Fabry disease.
- Trial name
- RISE (NCT05710692)
- Testing
- PRX-102 1 mg/kg every 2 weeks, PRX-102 2 mg/kg every 4 weeks
- Where
- 10 sites in Japan
- Volunteers
- 16 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Rett Syndrome
Esketamine for the Treatment of Rett Syndrome
The goal of this interventional study is to learn about the efficacy and safety of Esketamine for treating children with Rett syndrome (RTT).
- Trial name
- NCT06199700
- Testing
- Esketamine hydrochloride
- Where
- China
- Volunteers
- 3 people
- Sponsor
- Children's Hospital of Fudan University
Mitochondrial Diseases, Kearns-Sayre Syndrome
Global Registry and Natural History Study for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome…
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO
- Trial name
- GENOMIT (NCT05554835)
- Where
- 34 sites in Austria, Germany and 1 more
- Volunteers
- 6,000 people
- Sponsor
- LMU Klinikum
Menkes Disease, Occipital Horn Syndrome
Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
Menkes disease and occipital horn syndrome are two forms of copper deficiency that must be diagnosed and treated very early in life to prevent serious developmental problems.
- Conditions
- Menkes Disease, Occipital Horn Syndrome, Unexplained Copper Deficiency
- Trial name
- NCT00811785
- Testing
- Copper Histidine
- Where
- United States
- Volunteers
- 93 people
- Sponsor
- Cyprium Therapeutics, Inc.
Hemophilia A, Hemophilia B
Ultrasonography in Hemophilic Joint Disease and Serum Markers
Hemophilia is a bleeding disorder (deficiency of a blood clotting factor/ protein) resulting in bleeding in joints and muscles. As patients continue to bleed into their joints they develop progressive joint damage leading to…
- Conditions
- Hemophilia A, Hemophilia B, Hemarthroses
- Trial name
- NCT02634918
- Testing
- ultrasound
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Northwell Health
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