Clinical trials: X-Linked
Rhabdomyolysis Linked to a Hereditary Disease of Metabolism
Evaluate the Effort Test as a Therapeutic Monitoring Tool in Acute Rhabdomyolyses
The prognosis of rhabdomyolyses related to hereditary diseases of metabolism is poor and treatments are only symptomatic. Rhabdomyolysis outbreaks are frequently precipitated by fever and fasting. They are unpredictable.
- Trial name
- EFFORHAB (NCT03802279)
- Testing
- Effort test, Functional tests on fibroblasts
- Where
- France
- Volunteers
- 27 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
X-Linked Hypophosphatemia
Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners
Through observation of patients with X-linked hypophosphatemic rickets/osteomalacia (XLH) for up to 10 years, the study intends to collect data that allow achievement of the following objectives: 1.
- Trial name
- SUNFLOWER (NCT03745521)
- Testing
- no intervention
- Where
- Japan
- Volunteers
- 226 people
- Sponsor
- Kyowa Kirin Co., Ltd.
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Heart Failure
Clinical Prospective ranDomized Trial to Evaluate the Non-inferiority of Left Bundle Branch Area Pacing Vs Cardiac ResynchronIzatioN Therapy With ECG guIded AV Optimization
Cardiac resynchronization therapy is the gold standard therapy for patients with advanced HF left ventricle dysfunction and large QRS.
- Trial name
- DA VINCI (NCT07107048)
- Testing
- Pacemaker and defibrillator
- Where
- Italy
- Volunteers
- 194 people
- Sponsor
- Leonardo Calò, MD
X-Linked Genetic Diseases, Autosomal Recessive Disorder
Mackenzie's Mission: The Australian Reproductive Carrier Screening Project
This study will investigate reproductive genetic carrier screening (RGCS) in 10,000 couples across Australia. Carrier screening for approximately 1300 genes associated with severe, childhood-onset, X-linked and autosomal…
- Trial name
- NCT04157595
- Testing
- Reproductive Genetic Carrier Screening
- Where
- 24 sites in Australia
- Volunteers
- 18,302 people, healthy volunteers welcome
- Sponsor
- Murdoch Childrens Research Institute
X Linked Hypophosphatemia
Burden of Disease and Functional Impairment in XLH
Observational study comprising prospective follow up as well as retrospective chart review in order to evaluate the longitudinal course of the disease in XLH patients with a specific focus on functional impairment, physical…
- Trial name
- IdeFIX (NCT04946409)
- Testing
- no intervention
- Where
- Germany
- Volunteers
- 60 people
- Sponsor
- Wuerzburg University Hospital
Neural Tube Defects, Folic Acid Deficiency
Using Iodized Salt to Improve Serum Folate, B12 and Iron Levels
Question: How effective is fortified iodized salt in increasing serum concentrations of folate, B12 and iron among non-pregnant and non-lactating women of reproductive age? Hypothesis: Micronutrient fortified iodized salt can…
- Conditions
- Neural Tube Defects, Folic Acid Deficiency, Spina Bifida, Anencephaly-Spina Bifida
- Trial name
- NCT06904612
- Testing
- Micronutrient fortified iodized salt
- Where
- 2 sites in United States, India
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Hydrocephalus and Neuroscience Institute
Heart Failure
Care-HF CArdiac Resynchronization in Heart Failure
The CARE-HF trial evaluates the effects of Cardiac Resynchronization (CR) therapy on the mortality and morbidity of patients with heart failure due to left ventricular systolic dysfunction already receiving diuretics and optimal…
- Trial name
- NCT00170300
- Testing
- Implantable Cardiac Resynchronisation (pacing) device
- Volunteers
- 813 people
- Sponsor
- Medtronic Cardiac Rhythm and Heart Failure
Heart Failure, Central Sleep Apnea
Cardiac Resynchronisation Therapy in Combination With Overdrive Pacing in the Treatment of Central Sleep Apnea in CHF
The primary objective of this study is to compare the Apnea- Hypopnea Index in HF patients with concomitant CSA, after 12 weeks of CRT alone to CRT in combination with one night of overdrive pacing.
- Trial name
- Morpheus (NCT00551499)
- Testing
- CRT + AOP
- Where
- 2 sites in Germany
- Volunteers
- 44 people
- Sponsor
- Medtronic Cardiac Rhythm and Heart Failure
NLRC4-MAS, XIAP Deficiency
Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency
This is a Phase 3 study to assess the safety and efficacy of Tadekinig alfa in patients with monogenic, interleukin-18 (IL 18) driven autoinflammation due to Nucleotide-binding oligomerization domain, leucine-rich repeat and…
- Trial name
- NCT03113760
- Testing
- Tadekinig alfa, 0.9% sodium chloride
- Where
- 9 sites in United States, Canada and 1 more
- Volunteers
- 15 people
- Sponsor
- AB2 Bio Ltd.
Autism, Autism Spectrum Disorder
A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism
This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records regarding autism.
- Conditions
- Autism, Autism Spectrum Disorder, Autistic Disorder, Autism, Akinetic
- Trial name
- NCT04100863
- Testing
- No Intervention
- Where
- United States
- Sponsor
- ProgenaBiome
X-linked Agammaglobulinemia, XLA
COVID-19 Vaccine Responses in PIDD Subjects
The goal of our study is to assess the cellular immune responses of participants with antibody deficiency disease before and after immunization with SARS-CoV-2 mRNA vaccines.
- Conditions
- X-linked Agammaglobulinemia, XLA, Primary Immune Deficiency, CVID
- Trial name
- NCT05321407
- Where
- 3 sites in United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Duke University
Muscular Dystrophies, Muscular Dystrophy, Duchenne
A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy
HOPE-2 is a double-blind clinical trial evaluating the safety and efficacy of a cell therapy called CAP-1002 in study participants with Duchenne Muscular Dystrophy (DMD).
- Conditions
- Muscular Dystrophies, Muscular Dystrophy, Duchenne, Muscular Disorders, Atrophic, Muscular Diseases
- Trial name
- HOPE-2 (NCT03406780)
- Testing
- CAP-1002
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Capricor Inc.
RP2-associated Retinitis Pigmentosa, X-Linked Retinitis Pigmentosa (XLRP)
InsightRP2 Registry
InsightRP2 is a secure online patient registry specific to RP2-associated retinitis pigmentosa (RP). It is our goal to further the scientific understanding of this rare disease and to support research in to a gene therapy for…
- Conditions
- RP2-associated Retinitis Pigmentosa, X-Linked Retinitis Pigmentosa (XLRP), Retinitis Pigmentosa 2
- Trial name
- NCT06982417
- Where
- Germany
- Volunteers
- 200 people
- Sponsor
- University of Göttingen
Small Cell Neuroendocrine Carcinoma, Prostate Cancer
Apalutamide Plus Cetrelimab in Patients With Treatment-Emergent Small Cell Neuroendocrine Prostate Cancer
Despite the low androgen receptor (AR) transcriptional activity of treatment-emergent small cell neuroendocrine prostate cancer, there is persistent AR expression observed in the majority of treatment-emergent small-cell…
- Conditions
- Small Cell Neuroendocrine Carcinoma, Prostate Cancer, Small Cell Carcinoma
- Trial name
- NCT04926181
- Testing
- Apalutamide, Cetrelimab
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Rahul Aggarwal
Fragile X Syndrome (FXS), Neurotypical Adults
Neural Biomarkers in Fragile X Syndrome
The purpose of this non-interventional test /re-test study is to assess neural biomarkers in adult subjects with Fragile X syndrome compared to those measured in a population of typically developing adults
- Trial name
- EXP-CTH120 (NCT06957054)
- Testing
- Any
- Where
- 2 sites in Spain
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Connecta Therapeutics, S.L.
Granulomatous Disease, Chronic, X-linked
Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease
Chronic Granulomatous Disease (CGD) is an inherited immunodeficiency disorder which results from defects that prevent white blood cells from effectively killing bacteria, fungi and other microorganisms.
- Trial name
- NCT02234934
- Testing
- Lentiviral G1XCGD Gene Therapy
- Where
- 3 sites in United States
- Volunteers
- 10 people
- Sponsor
- University of California, Los Angeles
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
This is an open-label, prospective, genotype-match controlled for primary estimand, non randomized, multicenter, international Phase 2 clinical trial designed to investigate the efficacy and safety of ER004 administered…
- Trial name
- EDELIFE (NCT04980638)
- Testing
- ER004
- Where
- 8 sites in United States, France and 4 more
- Volunteers
- 20 people
- Sponsor
- EspeRare Foundation
X-Linked Retinitis Pigmentosa
An Observational Study of Japanese Participants With X-linked Retinitis Pigmentosa
The purpose of the study is to identify a cohort of Japanese participants with X-linked retinitis pigmentosa (XLRP) associated with pathogenic variants in the retinitis pigmentosa GTPase regulator (RPGR) gene and to investigate…
- Trial name
- NCT04868916
- Where
- Japan
- Volunteers
- 15 people
- Sponsor
- Janssen Pharmaceutical K.K.
Spinal and Bulbar Muscular Atrophy
Clinical Trial of Mexiletine Hydrochloride for Spinal and Bulbar Muscular Atrophy
The purpose of this clinical trial is to evaluate the efficacy and safety of mexiletine hydrochloride in patients with spinal and bulbar muscular atrophy.
- Trial name
- Med-SBMA (NCT06862596)
- Testing
- Mexiletine hydrochloride
- Where
- 5 sites in Japan
- Volunteers
- 68 people
- Sponsor
- Masahisa Katsuno