Clinical trials: X-Linked
Hemophilia A, Hemophilia B
A Single Escalating Dose and Multiple Dose Study of BAY 1093884 in Subjects With Severe Hemophilia Types A or B, With or Without Inhibitors
Investigate the safety, tolerability and pharmacokinetics of BAY1093884 after Intravenous (IV) and subcutaneous (SC) administration of increasing single doses and SC administration of multiple doses.
- Trial name
- NCT02571569
- Testing
- BAY1093884
- Where
- 10 sites in Bulgaria, Germany and 3 more
- Volunteers
- 32 people
- Sponsor
- Bayer
Cerebrovascular Accident
Stroke in Young Fabry Patients (sifap1): Frequency of Fabry Disease in Young Stroke Patients
More than one million people in Europe suffer from a stroke every day. Normally older people have a stroke, but also a significant number of younger people between 18 and 55 years.
- Trial name
- sifap1 (NCT00414583)
- Testing
- No intervention
- Where
- 45 sites in Austria, Belgium and 12 more
- Volunteers
- 5,000 people
- Sponsor
- CENTOGENE GmbH Rostock
X-Linked Hypophosphatemia
Efficacy and Safety of Burosumab Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With XLH
The primary objective of this study is to evaluate the effect of KRN23 (burosumab) therapy in improving rickets in children with XLH compared with active control (oral phosphate/active vitamin D).
- Trial name
- NCT02915705
- Testing
- burosumab, Oral Phosphate Supplement, active vitamin D
- Where
- 16 sites in United States, Australia and 5 more
- Volunteers
- 61 people
- Sponsor
- Kyowa Kirin, Inc.
Fabry Disease
Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.
- Trial name
- NCT04804566
- Testing
- This is a non-interventional study
- Where
- United States
- Volunteers
- 44 people
- Sponsor
- Amicus Therapeutics
Rett Syndrome
Pharmacological Treatment of Rett Syndrome With Glatiramer Acetate (Copaxone)
A phase 2 open label trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of severe neurological impairment in girls.
- Trial name
- NCT02153723
- Testing
- Glatiramer Acetate
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Montefiore Medical Center
Muscular Dystrophy, Duchenne
Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD
This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in…
- Trial name
- NCT02834650
- Testing
- Cardiac MRI with contrast, Cardiac MRI without contrast, Blood Test
- Where
- 3 sites in United States
- Volunteers
- 89 people, healthy volunteers welcome
- Sponsor
- Stanford University
X-linked Hypophosphatemia
A Study of KRN23 in X-linked Hypophosphatemia
The primary objective of this study is to assess the safety and tolerability of KRN23 after a single intravenous (IV) and subcutaneous (SC) administration in XLH patients.
- Trial name
- NCT00830674
- Testing
- KRN23
- Where
- 4 sites in United States
- Volunteers
- 42 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Duchenne Muscular Dystrophy
Exploratory Study of NS-065/NCNP-01 in DMD
This study is designed to assess the safety, tolerability, efficacy and pharmacokinetics (PK) of NS-065/NCNP-01 in subjects diagnosed with Duchenne muscular dystrophy (DMD).
- Trial name
- NCT02081625
- Testing
- NS-065/NCNP-01
- Where
- Japan
- Volunteers
- 10 people
- Sponsor
- National Center of Neurology and Psychiatry, Japan
Menkes Disease
Long Term Follow-up on Menkes Disease Patients
This study will collect long term follow-up data regarding overall survival and neurological parameters from patients previously identified and/or enrolled in Protocols 09-CH-0059 and 90-CH0149 and Historical Control data on…
- Trial name
- NCT04337684
- Testing
- Long Term Follow-Up
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Sentynl Therapeutics, Inc.
Laminopathies, Emerinopathies
Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Laminopathies and emerinopathies are complex group of rare disorders due to mutations in A-type lamins (LMNA) and Emerin (EMD) genes.
- Trial name
- OPALE (NCT03058185)
- Where
- 29 sites in France
- Volunteers
- 800 people
- Sponsor
- Pitié-Salpêtrière Hospital
SCID, X-Linked
SCID-X1 Gene Therapy Via Intravenous Lentiviral (Ivlv-X1) Injection
This is a Phase I/II gene therapy trial treating X-linked severe combined immunodeficiency (SCID-X1) using a self-inactivating lentiviral vector (ivlv-X1) to functionally correct the genetic defect.
- Trial name
- NCT03217617
- Testing
- Direct intravenous injection of ivlv-X1 lentiviral vector
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Rett Syndrome
Treatment of Rett Syndrome With rhIGF-1 (Mecasermin [rDNA]Injection)
The investigators are recruiting children for a research study using a medication known as IGF-1 (mecasermin or INCRELEX) to see if it improves the health of children with Rett syndrome (RTT).
- Trial name
- NCT01253317
- Testing
- rhIGF-1
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Boston Children's Hospital
Fragile X Syndrome
A Study to Assess the Tolerability of a Single Dose of STX107 in Adults With Fragile X Syndrome
The study will consist of a Screening period (up to 14 days), a Treatment period, and a Follow-Up period. Sixteen subjects will be enrolled into two sequential dose cohorts - 10 or 30 mg (or matching placebo) across four study…
- Trial name
- NCT01325740
- Testing
- STX107
- Where
- 5 sites in United States
- Volunteers
- 16 people
- Sponsor
- Seaside Therapeutics, Inc.
Fabry Disease
Safety and Effect of Oral RVX000222 in Subjects With Fabry Disease
Fabry Disease (FD) is a rare X-linked lysosomal storage disorder (LSD) caused by mutations in the GLA gene which translates into decreased activity or lack of function of the enzyme alpha-galactosidase A (α-GAL A) and…
- Trial name
- NCT03228940
- Testing
- RVX000222
- Where
- Canada
- Sponsor
- Resverlogix Corp
Lowe Syndrome
Genetic Analysis of Oculocerebrorenal Syndrome of Lowe
This study will investigate the genetic basis of oculocerebrorenal syndrome of Lowe (OCRL)-a rare X-linked disorder (carried by females and passed to males).
- Trial name
- NCT00359515
- Where
- United States
- Volunteers
- 120 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Duchenne Muscular Dystrophy
Evaluate the Efficacy and Safety of EN001 in Patients With Duchenne Muscular Dystrophy
A Multi-center, Randomized, Double-blind, Placebo-controlled, Phase 1/2 Trial to Evaluate the Efficacy and Safety of EN001 in Patients with Duchenne Muscular Dystrophy
- Trial name
- NCT06328725
- Testing
- EN001
- Where
- 2 sites in South Korea
- Volunteers
- 88 people
- Sponsor
- ENCell
Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne
Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases.
- Conditions
- Rare Genetic Muscle Diseases, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Congenital Myopathy
- Trial name
- ARNseq-Musc (NCT06833489)
- Testing
- ARN extraction from muscle biopsies
- Where
- France
- Volunteers
- 50 people
- Sponsor
- Assistance Publique Hopitaux De Marseille
Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP)
A Study to Investigate PORT-77 Oral Dosing Compared With Placebo in Participants With Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP)
PATHWAY is a Phase 2b/3 clinical study with an Open-Label Extension (OLE). It tests PORT-77 in patients with EPP, EPP2, and XLP.
- Conditions
- Erythropoietic Protoporphyria (EPP), X-Linked Protoporphyria (XLP), EPP2
- Trial name
- PATHWAY (NCT07820085)
- Testing
- PORT-77
- Where
- 2 sites in United States
- Volunteers
- 225 people
- Sponsor
- Portal Therapeutics, Inc.
Becker Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 2I
Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I
The purpose of this study is to investigate the paradoxical muscle enlargement in the calves and tongue seen in patients affected by Becker muscular dystrophy and Limb-girdle muscular dystrophy type 2I.
- Trial name
- NCT02165358
- Where
- Denmark
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Duchenne Muscular Dystrophy, Muscle Strength
Effect of Muscle Strength on Hamstring Flexibility in Children With Duchenne Muscular Dystrophy
Investigator researched that the effect of trunk and lower extremity muscle strength on hamstring flexibility in children with Duchenne Muscular Dystrophy.
- Conditions
- Duchenne Muscular Dystrophy, Muscle Strength, Lower Extremity, Hamstring Contractures
- Trial name
- NCT03589573
- Where
- Turkey (Türkiye)
- Volunteers
- 30 people
- Sponsor
- Hacettepe University
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