Clinical trials: X-Linked
Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth
Natural History Study for Charcot Marie Tooth Disease
The goal of this Natural History Study for Charcot-Marie-Tooth is to acquire, record, and analyze patient-reported data and associated genetic reports, Electronic Health Records (EHRs) and clinical notes to identify the burden…
- Conditions
- Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth, Charcot-Marie-Tooth Disease, Type IA, Charcot-Marie-Tooth Disease Type 2A
- Trial name
- NCT05902351
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- Hereditary Neuropathy Foundation
PIDs Linked to PI3K
Long-term Safety and Efficacy of Leniolisib in PIDs With Immune Dysregulation
This is an open-label extension (OLE) study to extend treatment to patients with primary immunodeficiency (PID) disorders linked to phosphoinositide 3-kinase delta signaling who participated in a prior study of leniolisib, LE…
- Trial name
- NCT06990529
- Testing
- Leniolisib
- Where
- 5 sites in United States, Spain and 1 more
- Volunteers
- 12 people
- Sponsor
- Pharming Technologies B.V.
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.
Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD)
Long-term Follow-up of Participants With Cerebral Adrenoleukodystrophy Who Were Treated With Lenti-D Drug Product
This is a multi-center, long-term safety and efficacy follow-up study for participants with cerebral adrenoleukodystrophy (CALD) who have received Lenti-D Drug Product (eli-cel) in a parent clinical study (Study ALD-102 or Study…
- Conditions
- Cerebral Adrenoleukodystrophy (CALD), Adrenoleukodystrophy (ALD), X-Linked Adrenoleukodystrophy (X-ALD)
- Trial name
- NCT02698579
- Testing
- No interventional drug product utilized in this follow-up study
- Where
- 13 sites in United States, Argentina and 7 more
- Volunteers
- 64 people
- Sponsor
- Genetix Biotherapeutics Inc.
Erythropoietic Protoporphyria, X-linked Protoporphyria
Effect of Oral Cimetidine in the Protoporphyrias
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) result from genetic defects of heme biosynthesis that cause life-long, painful cutaneous sensitivity to light.
- Trial name
- NCT05020184
- Testing
- Cimetidine
- Where
- 3 sites in United States
- Volunteers
- 26 people
- Sponsor
- Amy K. Dickey, M.D.
X-Linked Myotubular Myopathy
A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM)
X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no therapies for this serious condition.
- Trial name
- ASPIRO (NCT03199469)
- Testing
- Resamirigene bilparvovec
- Where
- 6 sites in United States, Canada and 2 more
- Volunteers
- 27 people
- Sponsor
- Astellas Gene Therapies
Soft Tissue Sarcoma, Sts
Neoadjuvant ADI-PEG 20 + Ifosfamide + Radiotherapy in Soft Tissue Sarcoma
In this study, patients with soft tissue sarcoma (STS) will receive ADI-PEG 20 and ifosfamide in combination with radiation as neoadjuvant therapy.
- Conditions
- Soft Tissue Sarcoma, Sts, Sarcoma,Soft Tissue
- Trial name
- NCT05813327
- Testing
- ADI PEG20, Ifosfamide, Radiotherapy
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Washington University School of Medicine
X-Linked Myotubular Myopathy
Study of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators
X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM.
- Trial name
- NCT07052929
- Testing
- ASP2957, Methylprednisolone, Prednisolone
- Where
- 5 sites in United States, Canada
- Volunteers
- 9 people
- Sponsor
- Astellas Gene Therapies
X-linked Hypophosphatemia, Hypophosphatemic Rickets
X-linked Hypophosphatemia Disease Monitoring Program
The objectives of this observational study are to characterize XLH disease presentation and progression and to assess long-term effectiveness and safety of burosumab.
- Trial name
- NCT03651505
- Testing
- No intervention
- Where
- 38 sites in United States, Argentina and 4 more
- Volunteers
- 782 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Muscular Dystrophies, Muscular Dystrophy, Duchenne
A Study of Deramiocel (CAP-1002) in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
HOPE-3 is a two cohort, Phase 3, multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the efficacy and safety of a cell therapy called deramiocel (CAP-1002) in study participants with Duchenne…
- Conditions
- Muscular Dystrophies, Muscular Dystrophy, Duchenne, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- HOPE-3 (NCT05126758)
- Testing
- Deramiocel (CAP-1002)
- Where
- 20 sites in United States
- Volunteers
- 106 people
- Sponsor
- Capricor Inc.
X-linked Hypophosphatemia (XLH)
Treatment Patterns, Biochemical Profiles and Clinical Outcomes in Adults With X-Linked Hypophosphatemia
The purpose of this study is to better understand how X-linked hypophosphatemia (XLH) affects the body and daily life. Phosphate levels are critical in managing XLH, we aim to study how these levels change in patients taking…
- Trial name
- IBIS XLH (NCT07607600)
- Testing
- No treatment given
- Where
- 23 sites in United States, Australia and 6 more
- Sponsor
- Novo Nordisk A/S
X-linked Adrenoleukodystrophy
Quality of Life in Women With X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy (X-ALD) is a hereditary white matter disorder caused by mutations in the ABCD1 gene leading to disturbances in the metabolism of fatty acids.
- Trial name
- X-ALD_QoL (NCT04675749)
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- Leipzig University Medical Center
Castration-resistant Prostate Cancer, Metastatic Cancer
pTVG-HP DNA Vaccine With or Without pTVG-AR DNA Vaccine and Pembrolizumab in Patients With Castration-Resistant, Metastatic Prostate Cancer
This trial will evaluate the use of one versus two DNA vaccines, delivered concurrently with PD-1 blockade using pembrolizumab followed by treatment with pembrolizumab alone, and delivered over a prolonged period of time (for a…
- Conditions
- Castration-resistant Prostate Cancer, Metastatic Cancer, Prostate Cancer
- Trial name
- NCT04090528
- Testing
- pTVG-HP, pTVG-AR, Pembrolizumab
- Where
- 2 sites in United States
- Volunteers
- 60 people
- Sponsor
- University of Wisconsin, Madison
X-Linked Chronic Granulomatous Disease
Study of EN-374 Gene Therapy in Participants With X-Linked Chronic Granulomatous Disease
The goal of this clinical trial is to evaluate the safety and potential efficacy of the EN-374 treatment regimen and identify a dose level for further evaluation in participants with x-linked chronic granulomatous disease.
- Trial name
- NCT06876363
- Testing
- EN-374
- Where
- 9 sites in United States, United Kingdom
- Volunteers
- 15 people
- Sponsor
- Ensoma
Spinal Muscular Atrophy, SMA
UK SMA Patient Registry
Spinal muscular atrophy (SMA) is a form of motor neuron disease, most commonly caused by a mutation in the survival motor neuron 1 gene (SMN1) which results in a wide disease spectrum affecting children and adults.
- Trial name
- NCT04292574
- Testing
- Patient Registry
- Where
- United Kingdom
- Volunteers
- 800 people
- Sponsor
- Newcastle University
Rett Syndrome
Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
The primary objectives of this study are to evaluate the safety, tolerability and preliminary efficacy of a single intrathecal (IT) dose of TSHA-102 in pediatric females with typical Rett syndrome.
- Trial name
- ASPIRE (NCT07480564)
- Testing
- TSHA-102
- Where
- 3 sites in United States
- Volunteers
- 4 people
- Sponsor
- Taysha Gene Therapies, Inc.
Spinal and Bulbar Muscular Atrophy, Kennedys Disease
Clinical, Molecular and Imaging Biomarkers in Spinal and Bulbar Muscular Atrophy (SBMA)
Background: SBMA is an inherited chronic disease. It affects males in mid to late adulthood. It causes slowly progressive weakness of muscles and hand tremors. Researchers want to learn more about the effects of SBMA.
- Conditions
- Spinal and Bulbar Muscular Atrophy, Kennedys Disease, Motor Neuron Disease
- Trial name
- NCT04944940
- Where
- United States
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Developmental Dysphasia, Epileptic Encephalopathy, Childhood-Onset
CNKSR2 Natural History Study
This prospective natural history study is being conducted to define the electroclinical, neurodevelopmental, and behavioral characteristics of CNKSR2 epilepsy aphasia syndrome (EAS) and intellectual disability (ID) in children…
- Conditions
- Developmental Dysphasia, Epileptic Encephalopathy, Childhood-Onset, X-Linked Intellectual Disability
- Trial name
- CNKSR2 (NCT06500260)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of California, San Francisco
Phosphate Diabetes, X-linked Hypophosphatemia
Phosphorus-31 Spectroscopy in Phosphate Diabetes
Phosphate diabetes is defined by urinary phosphate wasting due to impaired tubular reabsorption. It can be classified based on either a genetic or acquired origin.
- Trial name
- Phos-ATP (NCT06921720)
- Testing
- intra-muscular ATP values in phosphate diabetes, intra-muscular phosphate values in phosphate diabetes
- Where
- 2 sites in France
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Hospices Civils de Lyon
Fragile X Syndrome (FXS), Fragile X Syndrome
Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome
The purpose of this Phase IIa study is to evaluate the safety, tolerability, and effectiveness of CTH120 in adult males with Fragile X syndrome.
- Trial name
- FXS-CTH120-01 (NCT07654114)
- Testing
- CTH120
- Where
- 2 sites in Spain
- Volunteers
- 30 people
- Sponsor
- Connecta Therapeutics, S.L.