Clinical trials: X-Linked
Duchenne Muscular Dystrophy
A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) Following Imlifidase Infusion in Participants With Duchenne Muscular Dystrophy (DMD) Determined to Have Pre-existing Antibodies to Recombinant Adeno-Associated Virus Serotype (rAAVrh74)
This is a gene transfer therapy study evaluating the safety of delandistrogene moxeparvovec and delandistrogene moxeparvovec dystrophin expression in association with imlifidase, in participants with DMD with pre-existing…
- Trial name
- NCT06241950
- Testing
- delandistrogene moxeparvovec, imlifidase
- Where
- Spain
- Volunteers
- 5 people
- Sponsor
- Sarepta Therapeutics, Inc.
Prostate Cancer
Study to Compare Capsule and Liquid Formulations of Enzalutamide After Single Dose Administration Under Fasting Conditions in Prostate Cancer
Background: Enzalutamide is given to treat metastatic prostate cancer. But it takes 4 pills to deliver the effective dose. This can be difficult for people already taking multiple drugs.
- Trial name
- NCT03478904
- Testing
- Enzalutamide Liquid, Enzalutamide Capsule
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- National Cancer Institute (NCI)
Fabry's Disease
Analysis of the Nervous System in Patients With Fabry's Disease
Fabry's disease a genetic disorder (X-linked recessive) due to the absence of the enzyme ceramidetrihexosidase. The disease is characterized by abnormal collections of glycolipids in cells (histiocytes) within blood vessel walls…
- Trial name
- NCT00001491
- Where
- United States
- Volunteers
- 325 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Fabry Disease
Lipidomics and Functional Analyses of Platelets in Fabry Disease
This study aims to evaluate whether platelets are biochemically and functionally altered in Fabry disease (FD) and therefore possibly implicated in FD manifestations such as cerebrovascular events.
- Trial name
- NCT02649660
- Where
- 2 sites in Switzerland
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- Spital Linth
Fragile X Syndrome
Biomarker Testing and DNA Collection in Subjects Participating in Protocol 22001
The subjects that meet the inclusion and exclusion criteria and consent to participate in protocol 22001 will be offered participation in 22001A which will evaluate secreted protein before and after treatment with STX209 and…
- Trial name
- NCT00823368
- Testing
- STX209
- Where
- 11 sites in United States
- Sponsor
- Seaside Therapeutics, Inc.
Congenital Bleeding Disorder, Haemophilia A
Project to Update the Study of Congenital Haemophilia in Spain
This study is conducted in Europe. The aim of the study is to update the knowledge about the prevalence and severity of congenital haemophilia (A and B) in Spain.
- Conditions
- Congenital Bleeding Disorder, Haemophilia A, Haemophilia B
- Trial name
- PUCHS (NCT01959555)
- Testing
- No treatment given
- Where
- Spain
- Volunteers
- 1,157 people
- Sponsor
- Novo Nordisk A/S
Hemophilia B
Post Marketing Surveillance To Observe Safety and Efficacy Of BeneFIX In Patients With Hemophilia B
To provide safety and effectiveness information of BeneFIX during the post-marketing period as required by Korea FDA regulations, to identify any potential drug related treatment factors in Korean population including: 1) Unknown…
- Trial name
- NCT00484185
- Testing
- BeneFIX (coagulation factor IX (recombinant))
- Where
- South Korea
- Volunteers
- 183 people
- Sponsor
- Pfizer
Hunter Syndrome
Safety and Efficacy of Hunterase
The objective of this study is to determine the safety and efficacy of once weekly dosing of idursulfase-beta 0.5mg/kg administered by intravenous(IV) infusion for Hunter syndrome patients < 6 years old.
- Trial name
- GC1111 (NCT01645189)
- Testing
- Hunterase
- Where
- South Korea
- Volunteers
- 6 people
- Sponsor
- Green Cross Corporation
Hemophilia A, Hemophilia B
German Pediatric Hemophilia Research Database
The German Pediatric Hemophilia Research Database will collect data on the prophylactic and therapeutic use of factor concentrates, complications, outcome measures (joint scores, QoL) and living circumstances in newly diagnosed…
- Conditions
- Hemophilia A, Hemophilia B, Children, Drug Specific Antibodies
- Trial name
- GEPHARD (NCT02912143)
- Testing
- documentation only
- Where
- Germany
- Volunteers
- 800 people
- Sponsor
- Goethe University
XMEN
Magnesium Supplementation in People With XMEN Syndrome
Background: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia syndrome is called XMEN syndrome. In this genetic condition, the cells have less magnesium than normal.
- Trial name
- NCT02496676
- Testing
- Magnesium L-threonate, Intravenous (IV) magnesium sulfate (MgSO4)
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Small Fiber Neuropathy, Fabry Disease
Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel noninvasive method to detect sudomotor dysfunction.
- Conditions
- Small Fiber Neuropathy, Fabry Disease, Ehlers Danlos Syndrome, Mitochondrial Disease
- Trial name
- NCT02985710
- Testing
- Sudoscan, Skin biopsy, QSART
- Where
- United States
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Autism Spectrum Disorder
An Exploratory Open Label Study of EPI-743 (Vincerinone TM) in Children With Autism Spectrum Disorder
The investigators hypothesize that EPI-743 may provide clinical benefit to children with Autism Spectrum Disorder.
- Trial name
- Autism (NCT02226458)
- Testing
- EPI-743
- Sponsor
- Edison Pharmaceuticals Inc
Fragile X Syndrome
Effect of CBD on the Brain
This proposal focuses on the therapeutic relevance of the endocannabinoid (eCB) system for the treatment of Fragile-X syndrome (FXS), the primary hereditary cause of autism spectrum disorder (ASD).
- Trial name
- NCT06261450
- Testing
- CBD Oral Solution (eCBD system Target)
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Université de Sherbrooke
X-Linked Retinitis Pigmentosa
Gene Therapy for X-linked Retinitis Pigmentosa (XLRP) - Retinitis Pigmentosa GTPase Regulator (RPGR)
Phase 1 of the study is a dose escalation of the subretinal administration of AAV5-hRKp.RPGR vector to assess the safety of this vector in participants with XLRP caused by mutations in RPGR.
- Trial name
- NCT03252847
- Testing
- AAV5-RPGR
- Where
- 5 sites in United States, United Kingdom
- Volunteers
- 49 people
- Sponsor
- MeiraGTx UK II Ltd
Rett Syndrome, RTT
Neurophysiologic Biomarkers in Rett Syndrome
The goal of this observational study is to identify candidate biomarkers in individuals with Rett Syndrome (RTT). The main questions it aims to answer are: Do these biomarkers change during clinical changes in individuals with…
- Conditions
- Rett Syndrome, RTT, Rett Syndrome, Atypical
- Trial name
- NCT05932589
- Testing
- EEG and Auditory and Visual Evoked Potentials (AEP and VEP), Clinical assessment
- Where
- 6 sites in United States
- Volunteers
- 222 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
X-Linked Hypophosphatemia
Study of the Safety, Pharmacodynamics (PD) and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)
The primary objectives of the study are to: Establish the safety profile of KRN23 for the treatment of XLH in children between 1 and 4 years old Determine the PD effects of KRN23 treatment on serum phosphorus and other PD markers…
- Trial name
- NCT02750618
- Testing
- Burosumab
- Where
- 3 sites in United States
- Volunteers
- 13 people
- Sponsor
- Kyowa Kirin, Inc.
Hemophilia A, Hemophilia B
Virtual Reality for Hemophilia
Children with hemophilia are exposed to intravenous (IV) procedures that cause pain/anxiety and distraction methods can be employed to improve the patient experience.
- Trial name
- NCT03507582
- Testing
- Virtual Reality Distraction, Standard of Care Distraction
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Nationwide Children's Hospital
Hunter Syndrome
A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase®
Elaprase (idursulfase), a large molecular protein, is not expected to cross the blood brain barrier at therapeutic levels when administered intravenously.
- Trial name
- NCT00920647
- Testing
- Control, Idursulfase IT (1 mg), Idursulfase IT (10 mg)
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 16 people
- Sponsor
- Shire
RETT Syndrome With Proven MECP2 Mutation, Rett Syndrome
Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
The FENRTT2 study will investigate the efficacy and safety of a medicinal cannabis plant extract with extremely low THC (delta-9-tetrahydrocannabinol), NTI164, on Rett syndrome (RTT) in a crossover design.
- Trial name
- TRANSCEND (NCT07257978)
- Testing
- NTI164
- Where
- Australia
- Volunteers
- 40 people
- Sponsor
- Fenix Innovation Group
Glaucoma, Neuroprotection
Effect of Fixed Combination Citicoline Homotaurine and Pyrroloquinoline Quinone on Pattern-electroretinogram in Glaucoma
The goal of this clinical trial is to examine the effect of the fixed combination Citicoline 500 mg, Homotaurine 50 mg, Pyrroloquinoline quinone (PQQ) disodium salt (Neuprozin Mito®) on pattern electroretinogram (PERG) in…
- Trial name
- NCT06431113
- Testing
- Citicoline 500 mg plus Homotaurine 50 mg plus Pyrroloquinoline quinone (Neuprozin Mito® )
- Where
- 2 sites in Italy
- Volunteers
- 40 people
- Sponsor
- Fondazione IRCCS Policlinico San Matteo di Pavia
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