Clinical trials: Autosomal Recessive Disorder
Autosomal Recessive Cerebellar Ataxia
Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia
RADIAL is an algorithm which has been developed following a review of the literature on 67 autosomal recessive cerebellar ataxias (ARCA) and personal clinical experience.
- Trial name
- RADIAL-VALID (NCT04261127)
- Testing
- Genetic diagnosis (PMDA panel), Use of RADIAL algorithm
- Where
- 8 sites in France
- Volunteers
- 400 people, healthy volunteers welcome
- Sponsor
- University Hospital, Strasbourg, France
Coronary Artery Disease, Hypercholesterolemia
The Role of Atorvastatin on Monocyte Function in Patients With Coronary Artery Disease and Hypercholesterolemia
The aim of this study is to determine, whether an intensified atorvastatin therapy can improve monocyte function in patients with coronary artery disease and hypercholesterolemia.
- Conditions
- Coronary Artery Disease, Hypercholesterolemia, Monocyte Function
- Trial name
- NCT00329069
- Testing
- atorvastatin (drug)
- Where
- Germany
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- University of Ulm
Autosomal Recessive Polycystic Kidney Disease
Imaging Assessments of ARPKD Kidney Disease Progression
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder for which there are currently no disease specific treatments.
- Trial name
- IMAGE-ARPKD (NCT07201025)
- Where
- 2 sites in United States
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- The Cleveland Clinic
Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2
Biomarkers in Autosomal Dominant Cerebellar Ataxia
Autosomal dominant cerebellar ataxias (ADCA) are a group of neurodegenerative disorders that are clinically and genetically various.
- Conditions
- Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia, Autosomal Recessive 3, Episodic Ataxia, Type 7
- Trial name
- BIOSCA (NCT01470729)
- Testing
- metabolic and imaging biomarkers in SCA1,2,3 and 7 patients
- Where
- France
- Volunteers
- 102 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Nephronophthisis, NPH1
Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
Nephronophthisis (NPH) is an autosomal recessive, genetically heterogeneous disease, with mutations identified in over 20 genes (notably NPHP1 and NPHP4).
- Conditions
- Nephronophthisis, NPH1, Autosomal, Recessive
- Trial name
- NPH1 (NCT06648044)
- Testing
- Description: Research of therapeutic targets in the frame of nephronophthisis and renal associated ciliopathie
- Where
- France
- Volunteers
- 310 people, healthy volunteers welcome
- Sponsor
- Imagine Institute
Sleep Apnea, Cardiovascular Diseases
Oxidative Stress and Cardiovascular Morbidity in Sleep Apnea-Hypopnea Syndrome (SAHS)
The purpose of this study is to compare the levels of 8-isoprostane and other oxidative stress biomarkers in plasma and condensed exhaled air between patients with SAHS and cardiovascular complications, patients with SAHS without…
- Trial name
- OSCAMSA (NCT00487929)
- Testing
- nasal CPAP
- Where
- Spain
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Hospital Universitario La Paz
Sleep Apnea
Spanish Registry of Patients With Sleep Apnea and Daytime Sleepiness
Multicenter, observational and prospective study, in which patients referred to the sleep unit with suspected apnea will be recruited obstructive sleep.
- Trial name
- HYPNOSA (NCT06514482)
- Testing
- Diagnosis
- Where
- Spain
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Hospital San Pedro de Logroño
Acute Coronary Syndrome
Vascular Endothelial Growth Factor (VEGF), Platelet Derived Growth Factor (PDGF), Hepatocyte Growth Factor (HGF) in Patients With Acute Coronary Syndrome (ACS)
The main aim of the study is a comparison of serum and plasma concentration of VEGF (Vascular Endothelial Growth Factor), HGF (Hepatocyte Growth Factor) and PDGF (Platelet Derived Growth Factor) with markers of myocardial injury…
- Trial name
- NCT00844987
- Where
- Poland
- Volunteers
- 120 people, healthy volunteers welcome
- Sponsor
- National Institute of Cardiology, Warsaw, Poland
Obstructive Sleep Apnea of Adult
Impact of Intermittent Hypoxia on the Function of the Phagocytes
Patients with treatment-naive obstructive sleep apnea (OSA) who need continuous positive airway pressure (CPAP) therapy on clinical basis are included as well as healthy controls without OSA.
- Trial name
- NCT03618719
- Where
- Taiwan
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Taipei Veterans General Hospital, Taiwan
COVID-19, COVID-19 Acute Respiratory Distress Syndrome
The Effect of Listening to Music During CPAP on the Agitation Levels and Compliance.
Aim: This study was conducted to determine the effect of listening to music during CPAP on the agitation levels of intensive care patients who underwent CPAP due to COVID-19 and their compliance with the treatment.
- Trial name
- NCT05102084
- Testing
- Listening to music with a bluetooth headset to patients receiving CPAP support
- Where
- Turkey (Türkiye)
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- SÜMEYYE BİLGİLİ
Autosomal Recessive Disorder (Genetic Carriers of PKU)
Phe for Me? The Effects of L-Phe on PKU Carriers and Non-carriers
This is a clinical intervention study of PKU carriers (cases) and non-carriers (controls). Upon completing the informed consent process, participants will complete baseline measures of chronic mental health prior to the…
- Trial name
- Phe for Me (NCT06119048)
- Testing
- L-Phenylalanine
- Where
- Canada
- Volunteers
- 56 people, healthy volunteers welcome
- Sponsor
- University of Guelph
Autosomal Recessive Disorder (Genetic Carriers of PKU)
PKU Carriers Trial (Pilot Study): Impact on Cognition, Mental Health, Blood Pressure and Metabolism
This is a clinical intervention pilot/feasibility study of PKU carriers (cases) and non-carriers (controls). Upon completing the informed consent process, participants will complete baseline measures of chronic mental health…
- Trial name
- NCT05958784
- Testing
- L-Phenylalanine
- Where
- Canada
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- University of Guelph
Language Development
Language Development in Preterm Children
This research investigates the ways in which preterm birth affects how very young children learn to speak and understand language, and how older children gain efficiency in language processing.
- Trial name
- NCT01599780
- Where
- United States
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Stanford University
Chronic Periodontitis
Evaluation Efficacy of Melatonin Gel as Adjunctive Therapy in Chronic Periodontitis
This study was conducted to assess the benefit of locally delivered melatonin gel as adjunctive to scaling and root planning (SRP) in the treatment of chronic periodontitis.
- Trial name
- NCT05759416
- Testing
- Melatonin2%gel
- Where
- Egypt
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Al-Azhar University
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Cerebellar Ataxias, Spastic Paraplegias
SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic Paraplegias
Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater suggesting further genetic heterogeneity.
- Trial name
- Spatax (NCT00140829)
- Where
- 27 sites in Algeria, Belgium and 13 more
- Volunteers
- 6,000 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Obstructive Sleep Apnea Syndrome
Brain Oxygenation and Hemodynamics During Sleep in Obstructive Sleep Apnea Sufferers
The goal of this trial is to assess the performance of the OxiplexTS-an absolute near-infrared oximeter-as an instrument to measure brain oxygenation and hemodynamics in sleep medicine as well as in the broader field of…
- Trial name
- NIRS-OSAS (NCT00591591)
- Testing
- OxiplexTS
- Where
- 4 sites in United States
- Volunteers
- 309 people, healthy volunteers welcome
- Sponsor
- ISS, Inc.
Congenital Ichthyosis
Scientific Substantiation and Assessment of the Effectiveness of Pathogenetic Methods of Therapy for Congenital Ichthyosis in Children
This is an experimental non-randomized clinical study aimed at expanding the indications for the use of biological drugs with the aim of using them for the pathogenetic therapy of children with congenital ichthyosis.
- Trial name
- NCT04996485
- Testing
- Secukinumab Injection, Ustekinumab Injection, Dupilumab Injection
- Where
- Russia
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- National Medical Research Center for Children's Health, Russian Federation
Enlarged Vestibular Aqueduct, Sensorineural Hearing Loss
Enlarged Vestibular Aqueduct Registry
People with the congenital anatomical malformation known as "Enlarged Vestibular Aqueduct" (EVA) may experience decline in hearing ability.
- Trial name
- EVAR (NCT02798783)
- Where
- United States
- Volunteers
- 165 people, healthy volunteers welcome
- Sponsor
- University Hospitals Cleveland Medical Center
Inflammatory Bowel Diseases, Microbiota
Microbiome Alterations in IL10RA-deficient Patients After HSCT
To elucidate the longitudinal development of intestinal microbiota in patients with IL10RA deficiency after hematopoietic stem cell transplantation (HSCT).
- Trial name
- NCT03752372
- Testing
- hematopoietic stem cell transplantation
- Where
- China
- Volunteers
- 13 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Fudan University