Clinical trials: X-Linked
Factor VIII Deficiency, Factor IX Deficiency
The European Paediatric Network for Haemophilia Management ( PedNet Registry)
Rationale: Haemophilia is a rare disease; to improve knowledge international collaboration is needed. Well-defined clinical data will be collected from complete cohorts in order to prevent selection bias.
- Trial name
- PedNet (NCT02979119)
- Where
- 39 sites in Austria, Belgium and 17 more
- Volunteers
- 4,000 people
- Sponsor
- PedNet Haemophilia Research Foundation
X-linked Hypophosphatemia (XLH)
Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Patients Less Than 1 Year of Age
A Phase 1/2, Open-label, Multicenter, Non-randomized Study to Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of Burosumab in Paediatric Patients from Birth to Less than 1 Year of Age with X-linked Hypophosphatemia…
- Trial name
- NCT04188964
- Testing
- Burosumab
- Where
- 9 sites in Austria, France and 4 more
- Volunteers
- 16 people
- Sponsor
- Kyowa Kirin Pharmaceutical Development Ltd
Chronic Granulomatous Disease
Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995
This study is a longitudinal and cross-sectional evaluation of patients with Chronic Granulomatous Disease (CGD) who received or are receiving hematopoietic cell transplantation (HCT) for their disease under a variety of…
- Trial name
- NCT02116764
- Where
- United States
- Volunteers
- 137 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Congenital Bleeding Disorder, Haemophilia A
Epidemiological Study on Haemophilia Care and Orthopaedic Status in Developing Countries
This study is conducted in Africa and Asia. The aim of this study is to evaluate in the participating countries the orthopaedic status and the degree of arthropathy of severe haemophilia patients in general.
- Conditions
- Congenital Bleeding Disorder, Haemophilia A, Haemophilia A With Inhibitors, Haemophilia B
- Trial name
- HAEMOcare (NCT01503567)
- Testing
- No treatment given
- Where
- 4 sites in India, Morocco and 2 more
- Volunteers
- 282 people
- Sponsor
- Novo Nordisk A/S
Fragile X Syndrome
A Study With RO4917523 in Patients With Fragile X Syndrome
This randomized, double-blind multiple ascending dose study will evaluate the safety and tolerability, pharmacokinetics and efficacy of RO4917523 in patients with Fragile X Syndrome.
- Trial name
- NCT01015430
- Testing
- RO4917523
- Where
- 5 sites in United States
- Volunteers
- 40 people
- Sponsor
- Hoffmann-La Roche
Hemophilia B
Lead-in Study of VGB-R04 Gene Therapy for Hemophilia B-- An Observational Survey Analysis Study
This is a prospective, open, multicenter, observational lead-in study，to collect prospective efficacy and safety data of current replacement therapy in adult hemophilia B patients.
- Trial name
- NCT05442528
- Volunteers
- 20 people
- Sponsor
- Shanghai Vitalgen BioPharma Co., Ltd.
SCID, Omenn's Syndrome
Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies
This is a standard of care treatment guideline for allogeneic hematopoetic stem cell transplant (HSCT) in patients with primary immune deficiencies.
- Conditions
- SCID, Omenn's Syndrome, Reticular Dysgenesis, Wiskott-Aldrich Syndrome
- Trial name
- NCT01652092
- Testing
- Alemtuzumab 0.3 mg, Cyclophosphamide, Busulfan
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- Masonic Cancer Center, University of Minnesota
Hunter Syndrome
A Study of Elaprase in Children and Adults With Hunter Syndrome (Mucopolysaccharidosis II) in India
The main aim of this study is to learn more about the safety profile of Elaprase in Indian children and adults with hunter syndrome.
- Trial name
- NCT05058391
- Testing
- Elaprase
- Where
- 5 sites in India
- Volunteers
- 5 people
- Sponsor
- Takeda
Chediak-Higashi Syndrome, Graft Versus Host Disease
Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders
OBJECTIVES: I. Determine the efficacy of unrelated donor hematopoietic stem cell transplantation in the treatment of patients with life threatening hemophagocytic disorders. II.
- Conditions
- Chediak-Higashi Syndrome, Graft Versus Host Disease, X-Linked Lymphoproliferative Syndrome, Familial Erythrophagocytic Lymphohistiocytosis
- Trial name
- NCT00006056
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Fairview University Medical Center
Duchenne Muscular Dystrophy, Ambulation Difficulty
Postural and Anthropometric Properties of Foot and Ankle of Patients With DMD
Introduction: Progressive muscle weakness, joint contractures and body alignment disorders seen in patients with Duchenne Muscular Dystrophy (DMD) adversely affect the foot structure of the patients.
- Conditions
- Duchenne Muscular Dystrophy, Ambulation Difficulty, Posture Disorders in Children, Ambulation Disorder, Neurologic
- Trial name
- NCT05436210
- Testing
- foot posture index, north star ambulation assessment, timed performance tests, 6 minute walk test
- Where
- Turkey (Türkiye)
- Volunteers
- 48 people
- Sponsor
- Hacettepe University
X-linked Myotubular Myopathy
A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects
This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger.
- Trial name
- INCEPTUS (NCT02704273)
- Where
- 8 sites in United States, Canada and 3 more
- Volunteers
- 34 people
- Sponsor
- Astellas Gene Therapies
Hemophilia B
Dose Confirmation Trial of AAV5-hFIXco-Padua
This is an open-label, single-dose, single-arm, multi-center trial, with a screening, a treatment + post-treatment follow-up phase, and a long-term follow-up phase.
- Trial name
- NCT03489291
- Testing
- AAV5-hFIXco-Padua (AMT-061)
- Where
- 4 sites in United States
- Volunteers
- 3 people
- Sponsor
- CSL Behring
Rett Syndrome
A Novel, Regulated Gene Therapy (NGN-401) Study for Females With Rett Syndrome
This study will evaluate the efficacy and safety profiles of the investigational gene therapy, NGN-401, in females with typical Rett syndrome.
- Trial name
- NCT05898620
- Testing
- NGN-401
- Where
- 16 sites in United States, Australia and 1 more
- Volunteers
- 33 people
- Sponsor
- Neurogene Inc.
Duchenne Muscular Dystrophy
Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy
Primary Objective The primary objective of the study was to establish the effects of givinostat versus placebo administered chronically over 18 months to slow disease progression in ambulant DMD subjects.
- Trial name
- NCT02851797
- Testing
- givinostat
- Where
- 42 sites in United States, Belgium and 9 more
- Volunteers
- 179 people
- Sponsor
- Italfarmaco
Parkinson Disease, Huntington Disease
A PET Brain Imaging Study of mGluR5 in Subjects With Neuropsychiatric Conditions
Measurement of metabotropic glutamate receptor type 5 (mGluR5) binding capacity in the brain, may be a valuable tool in the early detection, understanding, or evaluation of Parkinson disease (PD), Huntington disease (HD), Fragile…
- Conditions
- Parkinson Disease, Huntington Disease, Autistic Spectrum Disorders, Fragile X Syndrome
- Trial name
- FPEB (NCT00870974)
- Testing
- [18F]FPEB
- Where
- United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Institute for Neurodegenerative Disorders
Chronic Granulomatous Disease
Gene Therapy for Chronic Granulomatous Disease in Korea
The purpose of this study is to evaluate the safety and efficacy of administration of autologous hematopoietic stem cells transduced with MT-gp91 retroviral vector for patients with X-linked chronic granulomatous disease.
- Trial name
- NCT00778882
- Testing
- VM106
- Where
- South Korea
- Sponsor
- Helixmith Co., Ltd.
Duchenne Muscular Dystrophy, Lower Urinary Tract Symptoms
Examination of Lower Urinary System Symptoms With Duchenne Muscular Dystrophy
The aim of this study is to examine the prevalence of lower urinary tract symptoms (LUTS) in children with Duchenne Muscular Dystrophy (DMD) and the relationship between functional level, posture, muscle strength, pelvic floor…
- Conditions
- Duchenne Muscular Dystrophy, Lower Urinary Tract Symptoms, Muscle Weakness, Posture Disorders in Children
- Trial name
- NCT05464446
- Testing
- Baseline Bubble Inclinometer, Baseline Digital İnclinometer and Hoggan microFET2 devices
- Where
- Turkey (Türkiye)
- Volunteers
- 45 people
- Sponsor
- Lokman Hekim University
Duchenne or Becker Muscular Dystrophy
Effectiveness of Aquatic Therapy in Children With Duchenne and Becker Muscular Dystrophy
The purpose of this study is ; to evaluate the effects of aquatic therapy applied in addition to conventional physical therapy on balance, functionality and quality of life in children with Duchenne and Becker muscular dystrophy.
- Trial name
- NCT06186310
- Testing
- Aquatic Therapy Group, Conventional Physical Therapy Group
- Where
- Turkey (Türkiye)
- Volunteers
- 16 people
- Sponsor
- Gaziosmanpasa Research and Education Hospital
X-Linked Hypohidrotic Ectodermal Dysplasia
Sweat Duct Imaging in Mother/Newborn Dyads
The purpose of this study is to evaluate sweat duct number on the plantar surface of newborn infants using a non-invasive confocal microscopy device.
- Trial name
- NCT01342133
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Edimer Pharmaceuticals
Hemophilia, Thrombosis
ATHNdataset Registry
The Hemophilia Treatment Center (HTC) where you receive care is working with The American Thrombosis and Hemostasis Network (ATHN) to look at the quality of life of people with blood disorders and problems.
- Conditions
- Hemophilia, Thrombosis, Hemophilia A, Hemophilia B
- Trial name
- NCT06820515
- Where
- United States
- Volunteers
- 200,000 people
- Sponsor
- American Thrombosis and Hemostasis Network
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