Clinical trials: X-Linked
Fragile X Syndrome (FXS), Creatine Transporter Deficiency
Optical Imaging in X-linked Disorders.
Fragile X syndrome (FXS, OMIM #300624) and Creatine Transporter Deficiency (CTD, #300352) are the two most common causes of X-linked intellectual disability.
- Trial name
- IMAGINER (NCT06868979)
- Testing
- Clinical assessment, Parental questionnaires, Cognitive assessment
- Where
- France
- Volunteers
- 118 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder
Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
This is a research protocol that will examine Hematopoietic Stem Cell Transplantation (HSCT) using a reduced conditioning regimen (RIC) with total body Irradiation (TBI) in those diagnosed with Common Variable Immunodeficiency…
- Conditions
- Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder, Immune Dysregulation, DiGeorge Syndrome
- Trial name
- CVID/PIRD (NCT07284641)
- Testing
- Hematopoietic stem cell transplant (HSCT)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Paul Szabolcs
X-linked Hypophosphatemia (XLH)
Effective Dosing of Burosumab in XLH
X-linked hypophosphataemia (XLH) is a rare, hereditary condition. The genetic defect leads to low blood phosphate levels and vitamin D suppression. Phosphate is required for strong bones and teeth and to store energy in cells.
- Trial name
- NCT07183579
- Where
- United Kingdom
- Volunteers
- 120 people
- Sponsor
- University of Nottingham
X-linked Hypophosphatemia, Hypophosphatemic Rickets
Calcitriol Monotherapy for X-Linked Hypophosphatemia
Children and adults with XLH recruited will be treated with calcitriol alone (without phosphate supplementation) for one year, during which the calcitriol dose will be escalated during the first 3 months of therapy.
- Conditions
- X-linked Hypophosphatemia, Hypophosphatemic Rickets, Hypophosphatemic Rickets, X-Linked Dominant
- Trial name
- NCT03748966
- Testing
- Calcitriol
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Massachusetts General Hospital
Erythropoietic Protoporphyria (EPP), X-Linked Porphyria (XLP)
Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)
The purpose of this study is to collect information about the effects of EPP/XLP in adults and adolescents. This is an observational study in which participants will not receive any treatment.
- Trial name
- stEPP (NCT07567131)
- Where
- 19 sites in United States, Belgium and 7 more
- Volunteers
- 50 people
- Sponsor
- Portal Therapeutics, Inc.
Severe Combined Immunodeficiency
Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector
Researchers are working on ways to treat SCID patients who don't have a matched brother or sister. One of the goals is to avoid the problems that happen with stem cell transplant from parents and unrelated people, such as repeat…
- Trial name
- NCT01129544
- Testing
- Gene transfer
- Where
- 3 sites in United States
- Volunteers
- 8 people
- Sponsor
- David Williams
X-Linked Chronic Granulomatous Disease
Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD)
X-linked chronic granulomatous disease (X-CGD) is a rare genetic disorder, which affects boys. It is caused by an error in a gene that makes part of the immune system.
- Trial name
- CGD (NCT01855685)
- Testing
- X vivo gene therapy
- Where
- 2 sites in United Kingdom
- Volunteers
- 3 people
- Sponsor
- Genethon
X-Linked Chronic Granulomatous Disease
Gene Therapy for X-linked Chronic Granulomatous Disease
X-linked chronic granulomatous disease (X-CGD) is a rare genetic disorder, which affects boys. It is a primary immunodeficiency disorder which results from an inability of the white blood cells called phagocytic cells (or…
- Trial name
- NCT02757911
- Testing
- X vivo gene therapy
- Where
- France
- Volunteers
- 3 people
- Sponsor
- Genethon
DDX3X, Mental Retardation, X-linked 102
DDX3X Syndrome -The Seaver Autism Center for Research and Treatment is Characterizing DDX3X-related Neurodevelopmental Disorders Using Genetic, Medical, and Neuropsychological Measures.
DDX3X syndrome is a genetic cause of intellectual disability and other neurologic features including, in some cases, autism. Variants in the DDX3X gene are thought to account for 1-3% of unexplained intellectual disability in…
- Conditions
- DDX3X, Mental Retardation, X-linked 102, Autism Spectrum Disorder
- Trial name
- NCT03718910
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Icahn School of Medicine at Mount Sinai
Salivary Gland Cancer
Darolutamide in Patients With Androgen Receptor-Positive Salivary Gland Carcinoma (DISCOVARY)
This study is an open-label phase 2 study to evaluate the safety and efficacy of Darolutamide monotherapy in patients with androgen receptor-positive salivary gland carcinoma.
- Trial name
- NCT05694819
- Testing
- Darolutamide, Goserelin
- Where
- 12 sites in Japan
- Volunteers
- 57 people
- Sponsor
- National Cancer Center Hospital East
X-Linked Retinitis Pigmentosa
A Clinical Trial Evaluating the Safety and Efficacy of a Single Subretinal Injection of AGTC-501 in Participants With XLRP
This study will evaluate and compare the safety, efficacy, and tolerability of 2 doses of a recombinant adeno-associated virus vector (AGTC-501/laruparetigene zovaparvovec )) to an untreated control group in male participants…
- Trial name
- NCT04850118
- Testing
- rAAV2tYF-GRK1-hRPGRco, Control
- Where
- 25 sites in United States, Australia and 2 more
- Volunteers
- 85 people
- Sponsor
- Beacon Therapeutics
Triple Negative Breast Neoplasms
Bicalutamide and Abemaciclib in Inoperable or Metastatic Androgen Receptor-positive Triple-negative Breast Cancer
This study has as goal to evaluate the use of abemaciclib and bicalutamide in androgen receptor positive metastatic triple negative breast cancer.
- Trial name
- ABBICAR (NCT06365788)
- Testing
- Abemaciclib, Bicalutamide
- Where
- 6 sites in Belgium
- Volunteers
- 53 people
- Sponsor
- Universitaire Ziekenhuizen KU Leuven
X-linked Retinoschisis
Safety and Efficacy Study of Novel Gene Therapy ZM-01 for X-linked Retinoschisis Patients
This trial is meant to evaluate the safety and efficacy of ZM-01 of X-linked retinoschisis. Unilateral intravitreal injections (IVT) will be given into the subject's Study Eye.
- Trial name
- NCT06066008
- Testing
- ZM-01-L, ZM-01-H
- Where
- China
- Volunteers
- 2 people
- Sponsor
- Zhongmou Therapeutics
Retinitis Pigmentosa, Stargardt Macular Dystrophy
Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
The Vision Research and Assessment Institute (VRAI) was established with the purpose of serving as a testing facility for efficacy endpoints for patients with Low Vision.
- Conditions
- Retinitis Pigmentosa, Stargardt Macular Dystrophy, Stargardt Disease, Geographic Atrophy From Age-related Macular Degeneration
- Trial name
- DEFINE-IRD (NCT07502664)
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- Ray Therapeutics, Inc.
Rett Syndrome
To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome
Primary Objective • To investigate the efficacy of treatment with oral Bionetide versus placebo in girls and women with Rett syndrome Key Secondary Objective To investigate the efficacy of treatment with oral Bionetide versus…
- Trial name
- NCT06840496
- Testing
- Bionetide
- Where
- 18 sites in United States, Australia
- Volunteers
- 210 people
- Sponsor
- Biomed Industries, Inc.
XIAP Deficiency
Quercetin in Patients With XIAP (X-linked Inhibitor of Apoptosis) Deficiency
The purpose of the study is to evaluate safety and tolerability of oral quercetin in reducing inflammation in male patients with XIAP deficiency.
- Trial name
- NCT07433621
- Testing
- Quercetin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Tourette Syndrome, Tourette Syndrome in Children
Theta Burst Stimulation to Improve Inhibitory Motor Physiology in Tourette Syndrome
Decades of Tourette Syndrome (TS) neuroimaging research has revealed abnormal cortical and subcortical motor system network, hypothesized to result from maladaptive plasticity.
- Conditions
- Tourette Syndrome, Tourette Syndrome in Children, Tourette Syndrome in Adolescence, Tourette Syndrome, Modifier of
- Trial name
- NCT05628805
- Testing
- iTBS
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Children's Hospital Medical Center, Cincinnati
Saccular and Fusiform Aneurysms, Pseudoaneurysm
Targeting Real World Usage In Stroke Treatment
TRUST Registry is an observational, prospective, long-term, post-market surveillance registry of subjects treated with WallabyPhenox flow modulation devices, stent systems, bifurcation aneurysm implants including their HPC…
- Conditions
- Saccular and Fusiform Aneurysms, Pseudoaneurysm, Vascular Dissection, Perforation
- Trial name
- TRUST (NCT07474935)
- Testing
- Aneurysm Treatment with a Neurovascular Flow Diverter, Dissection Treatment with a Neurovascular Flow Diverter, Perforation Treatment with a Neurovascular Flow Diverter
- Where
- 13 sites in France, Germany and 3 more
- Volunteers
- 5,000 people
- Sponsor
- Phenox GmbH
X-linked Severe Combined Immunodeficiency
Gene Therapy for X-linked Severe Combined Immunodeficiency
X-linked severe combined immunodeficiency (SCID-X1) is an inherited disorder that results in failure of development of the immune system in boys.
- Trial name
- SCID2 (NCT01410019)
- Testing
- Gene transfer
- Where
- France
- Volunteers
- 5 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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