Clinical trials: X-Linked
Spinal and Bulbar Muscular Atrophy, Kennedy's Disease
A Study of NIDO-361 in Patients With SBMA
The purpose of this study is to evaluate the safety, tolerability, and efficacy of NIDO-361 in adult patients with Spinal and Bulbar Muscular Atrophy (SBMA).
- Trial name
- PIONEER KD (NCT06411912)
- Testing
- NIDO-361
- Where
- 5 sites in Denmark, Italy and 2 more
- Volunteers
- 54 people
- Sponsor
- Nido Biosciences, Inc.
Alport Syndrome, X-Linked
Study of Hydroxychloroquine in Patients With X-linked Alport Syndrome in China (CHXLAS)
This Phase 2 randomized controlled trial will study the safety, tolerability, and efficacy of Hydroxychloroquine in qualified patients with Alport syndrome.
- Trial name
- CHXLAS (NCT04937907)
- Testing
- Hydroxychloroquine Sulfate 100 milligram (mg) Tab, Benazepril hydrochloride 10 milligram (mg) Tab
- Where
- China
- Volunteers
- 50 people
- Sponsor
- Shanghai Children's Hospital
SBMA, Spinal and Bulbar Muscular Atrophy (SBMA)
International SBMA Project (KDA)
This project aims at: connecting the existing registries and databases across different countries by comparing the information collected, the administered scales, the biochemical investigations performed; performing a common…
- Trial name
- KDA (NCT07443449)
- Where
- Italy
- Volunteers
- 700 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Intellectual Disability, Neurodevelopmental Disorders
Physical Activity and Community EmPOWERment Project
Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease…
- Conditions
- Intellectual Disability, Neurodevelopmental Disorders, Autism Spectrum Disorder, Down Syndrome
- Trial name
- PACE (NCT06740162)
- Testing
- PACE Program
- Where
- 2 sites in United States
- Volunteers
- 376 people, healthy volunteers welcome
- Sponsor
- University of North Carolina, Chapel Hill
Leukemia, Inborn Errors of Metabolism
Expanded Access Protocol Using CD3+/CD19+ Depleted PBSC
The goal of this protocol is to expand access for patients who lack a fully HLA (Human leukocyte antigen) matched sibling donor and who are candidates for allogeneic hematopoietic stem cell transplant (HSCT).
- Conditions
- Leukemia, Inborn Errors of Metabolism, Bone Marrow Failure Syndromes, Immunodeficiencies
- Trial name
- ExpMACs (NCT02356653)
- Testing
- Transplant of stem cells with CD3+/CD19+ depletion (CliniMACs)
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Children's Hospital of Philadelphia
Hemophilia A, Hemophilia A, Severe
Hemophilia A Research Program
This study longitudinally observes the intergenerational (mother-child) continuum in hemophilia A from pregnancy through early childhood.
- Conditions
- Hemophilia A, Hemophilia A, Severe, Factor VIII (FVIII), FVIII Deficiency
- Trial name
- HARP (NCT07414511)
- Where
- United States
- Volunteers
- 500 people, healthy volunteers welcome
- Sponsor
- University of Washington
Subretinal Haematoma Linked to AMD
Surgery, Tissue Plasminogen Activator, Antiangiogenic Agents and Age Related Macular Degeneration Complications
AMD is a disease of the central retina, a zone that enables fine detail activities (reading, detail…). This central zone of the retina can be affected by a haemorrhagic complication when small abnormal vessels suddenly start to…
- Trial name
- STAR (NCT02557451)
- Testing
- Surgery, Intravitreal injections of gas, injections of an antiangiogenic
- Where
- 17 sites in France
- Volunteers
- 91 people
- Sponsor
- Centre Hospitalier Universitaire Dijon
Protoporphyria
Effect of Bitopertin on the Liver and on Levels of Protoporphyrin IX in Bile, Blood, Liver, and Stool in Patients With Erythropoietic Protoporphyria/X-linked Protoporphyria and Increased Liver Stiffness and/or Liver Enzymes at Baseline
The primary goal of this study is to assess safety and tolerability of bitopertin in subjects with Erythropoietic Protoporphyria (EPP) or X-linked Protoporphyria (XLP) and evidence of compensated liver disease.
- Trial name
- NCT07123363
- Testing
- bitopertin
- Sponsor
- Wake Forest University Health Sciences
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
Spinal Muscular Atrophy
Phase IIIb, Open-label, Multi-center Study to Evaluate Safety, Tolerability and Efficacy of OAV101 Administered Intrathecally to Participants With SMA Who Discontinued Treatment With Nusinersen or Risdiplam
This was a Phase IIIb open-label, single arm, multi-center study to evaluate the safety, tolerability and efficacy of OAV101B in participants with SMA aged 2 to <18 years after the discontinuation of treatment with nusinersen or…
- Trial name
- STRENGTH (NCT05386680)
- Testing
- OAV101
- Where
- 13 sites in United States, Australia and 7 more
- Volunteers
- 27 people
- Sponsor
- Novartis Pharmaceuticals
Anaphylaxis, Mastocytosis
Analysis of the Role of IgE Proteoforms in Health and Disease
The goal of this observational study is to evaluate the role of IgE proteoforms in healthy volunteers and in patients with type I allergy, patients with chronic spontaneous urticaria, patients with a recent history of…
- Conditions
- Anaphylaxis, Mastocytosis, X-linked Agammaglobulinaemia, Venom Allergy
- Trial name
- IgE-PhD (NCT07328178)
- Testing
- Blood sample collection
- Where
- Belgium
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- KU Leuven
Fragile X Syndrome, Fragile X Mental Retardation Syndrome
A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
This study is a controlled trial of metformin in individuals with fragile X syndrome between the ages of 6 and 35 years. Participants will be randomized in a double-blind design to either drug or placebo and will attend three…
- Conditions
- Fragile X Syndrome, Fragile X Mental Retardation Syndrome, Mental Retardation, X-Linked, Genetic Diseases, X-Linked
- Trial name
- NCT03862950
- Testing
- Metformin
- Where
- 2 sites in Canada
- Volunteers
- 125 people
- Sponsor
- University of Alberta
Microbiome Related Mechanisms Linked to Early Onset Colorectal Cancer
The EAT-FIBRE Study.
The goal of this clinical trial is to understand whether diet can impact mechanisms linked to early-onset colorectal cancer. The main question it aims to answer is: does a high-fibre modified EatWell diet improve stool, blood…
- Trial name
- EAT-FIBRE (NCT07279454)
- Testing
- Modified EatWell diet, EatWell diet
- Where
- United Kingdom
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- King's College London
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Severe Combined Immunodeficiency, X Linked, Gene Therapy
Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning
This is a phase I/II open label multi-center study in which patients will receive low dose targeted busulfan followed by infusion of autologous CD34+ selected bone marrow or mobilized peripheral blood cells transduced with the…
- Trial name
- NCT03311503
- Testing
- autologous CD34+ cell transduced with G2SCID vector
- Where
- 4 sites in United States
- Volunteers
- 12 people
- Sponsor
- David Williams
Severe Combined Immunodeficiency Disease, X-linked
Gene Transfer for X-Linked Severe Combined Immunodeficiency in Newly Diagnosed Infants
SCID-X1 is a genetic disorder of blood cells caused by DNA changes in a gene that is required for the normal development of the human immune system.
- Trial name
- LVXSCID-ND (NCT01512888)
- Testing
- CL20-i4-EF1α-hγc-OPT, Busulfan, CliniMacs
- Where
- 3 sites in United States
- Volunteers
- 28 people
- Sponsor
- St. Jude Children's Research Hospital
Leukodystrophy, White Matter Disease
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Leukodystrophies, and other heritable disorders of the white matter of the brain, were previously resistant to genetic characterization, largely due to the extreme genetic heterogeneity of molecular causes.
- Conditions
- Leukodystrophy, White Matter Disease, 4H Syndrome, Adrenoleukodystrophy
- Trial name
- NCT02699190
- Where
- United States
- Volunteers
- 236 people
- Sponsor
- Children's Hospital of Philadelphia
Progressive Metastatic Prostate Cancer
An Asian Study to Evaluate Efficacy and Safety of Oral Enzalutamide in Progressive Metastatic Prostate Cancer Participants
Purpose of the study was to assess the effect of enzalutamide on time to Prostate Specific Antigen (PSA) progression as compared to placebo in chemotherapy naïve participants with progressive metastatic prostate cancer who have…
- Trial name
- NCT02294461
- Testing
- Enzalutamide
- Where
- 47 sites in China, Hong Kong and 2 more
- Volunteers
- 395 people
- Sponsor
- Astellas Pharma Inc
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Chronic Granulomatous Disease X-linked (X-CGD)
Combination of Ibuprofen, G-CSF and Plerixafor as Stem Cells Mobilization Regimen in Patients Affected by X-CGD
This is a phase II exploratory study conducted to evaluate the safety and efficacy of the combination of Ibuprofen, G-CSF and Plerixafor as stem cell mobilization regimen in patients affected by X-CGD.
- Trial name
- XCGD-MOBI (NCT03055247)
- Testing
- Ibuprofen, Myelostim, Mozobil
- Where
- 2 sites in Italy
- Volunteers
- 3 people
- Sponsor
- IRCCS San Raffaele