Clinical trials: X-Linked
Kennedy's Disease, Spinal and Bulbar Muscular Atrophy
Dutasteride to Treat Spinal and Bulbar Muscular Atrophy (SBMA)
This study will determine if the drug dutasteride can improve weakness, mobility, functioning, nerve function, and quality of life in patients with spinal and bulbar muscular atrophy (SBMA).
- Trial name
- NCT00303446
- Testing
- Dutasteride
- Where
- United States
- Volunteers
- 57 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Rett Syndrome
Pharmacological Treatment of Rett Syndrome With Statins
This is a phase 2 , open label, dose escalating study of Lovastatin in Rett syndrome.
- Trial name
- Statins (NCT02563860)
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Montefiore Medical Center
Charcot-Marie-Tooth Disease
Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
This is a multicenter, phase 2 study to evaluate the safety, tolerability, pharmacodynamics (PD), efficacy, and pharmacokinetics (PK) of ACE-083 in patients with Charcot-Marie-Tooth Disease Type 1 and Type X (CMT1 and CMTX), to…
- Trial name
- NCT03124459
- Testing
- ACE-083
- Where
- 16 sites in United States
- Volunteers
- 63 people
- Sponsor
- Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA
Hemophilia B
A Phase 1/2 Study of SHP648, an Adeno-Associated Viral Vector for Gene Transfer in Hemophilia B Subjects
The purpose of this study is to evaluate the safety and dose escalation of SHP648 an adeno-associated viral vector for gene transfer in hemophilia B participants.
- Trial name
- NCT04394286
- Testing
- SHP648
- Where
- 2 sites in Spain, Turkey (Türkiye)
- Volunteers
- 2 people
- Sponsor
- Baxalta now part of Shire
Non Malignant Disorders, Immunodeficiencies
Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders
The primary objective is to determine the feasibility of attaining acceptable rates of donor cell engraftment (>25% donor chimerism at 180 days) following reduced intensity conditioning (RIC) regimens in pediatric patients < 21…
- Conditions
- Non Malignant Disorders, Immunodeficiencies, Congenital Marrow Failures, Hemoglobinopathies
- Trial name
- NCT00744692
- Testing
- Unrelated Umbilical Cord Blood Transplant, Reduced Intensity Conditioning
- Where
- United States
- Volunteers
- 22 people
- Sponsor
- Duke University
Hemophilia B
RIXUBIS Drug Use-Result Survey (Japan)
The purpose of this survey is to understand the following items observed in the actual clinical use of RIXUBIS. 1. Unexpected adverse drug reactions 2. Occurrence of adverse drug reactions in the actual clinical use 3.
- Trial name
- NCT02937831
- Testing
- RIXUBIS
- Where
- 5 sites in Japan
- Volunteers
- 6 people
- Sponsor
- Baxalta now part of Shire
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
Muscular Dystrophy, Duchenne, Muscular Dystrophies
Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy
This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.
- Conditions
- Muscular Dystrophy, Duchenne, Muscular Dystrophies, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- NCT03179631
- Testing
- Ataluren
- Where
- 64 sites in United States, Australia and 16 more
- Volunteers
- 360 people
- Sponsor
- PTC Therapeutics
Osteoporosis
1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids
This 1-year open-label extension to CZOL446H2337 is designed to evaluate the safety and efficacy of zoledronic acid twice yearly in osteoporotic children treated with glucocorticoids.
- Trial name
- NCT01197300
- Testing
- Zoledronic acid
- Where
- 10 sites in Australia, Canada and 4 more
- Volunteers
- 25 people
- Sponsor
- Novartis Pharmaceuticals
X-linked Hypophosphatemia
Study of KRN23 (Burosumab), a Recombinant Fully Human Monoclonal Antibody Against Fibroblast Growth Factor 23 (FGF23), in Pediatric Subjects With X-linked Hypophosphatemia (XLH)
The objectives of the study are to: Identify a dose and dosing regimen of burosumab, based on safety and pharmacodynamic (PD) effect, in pediatric XLH participants Establish the safety profile of burosumab for the treatment of…
- Trial name
- NCT02163577
- Testing
- burosumab
- Where
- 9 sites in United States, France and 2 more
- Volunteers
- 52 people
- Sponsor
- Kyowa Kirin, Inc.
Retinoschisis, X-Linked
Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis
Background: X-linked juvenile retinoschisis (XLRS) is caused by changes in the RS1 gene. These changes cause abnormal function of the eye protein retinoschisin.
- Trial name
- NCT02317887
- Testing
- RS1 AAV Vector
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- VegaVect, Inc.
Hemophilia A, Hemophilia B
An Institutional Pilot Study to Investigate Physical Activity Patterns in Boys With Hemophilia
This pilot project was developed to investigate subjective and objective data related to the patterns of physical activity participation among hemophilia patients (FVIII or FIX) between the ages of 5 and 18 years.
- Conditions
- Hemophilia A, Hemophilia B, Factor VIII Deficiency, Factor IX Deficiency
- Trial name
- HEPS (NCT02199717)
- Testing
- Accelerometer
- Where
- Canada
- Volunteers
- 66 people
- Sponsor
- The Hospital for Sick Children
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)
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
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
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
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.
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
Hunter Syndrome
Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment
Study HGT-HIT-094 is a multicenter study designed to determine the effect on clinical parameters of neurodevelopmental status of monthly IT administration of idursulfase-IT 10 mg for 12 months in pediatric patients with Hunter…
- Trial name
- AIM-IT (NCT02055118)
- Testing
- idursulfase-IT, No IT treatment
- Where
- 9 sites in United States, Australia and 5 more
- Volunteers
- 58 people
- Sponsor
- Shire