Clinical trials: Autosomal Recessive Disorder
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
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
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
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
Autosomal Recessive Congenital Ichthyosis, Epidermolytic Ichthyosis
Study of in Vivo and in Vitro Transcriptomic and Proteomic Signatures in Unhereditary Ichtyosis
The goal of this study is to identify important biological pathways involved in a variety of ichtyosis, using transcriptomic and proteomic techniques, with the aim of guiding the development of new therapeutis.
- Trial name
- OMICHTYOSE (NCT05312073)
- Testing
- Biological samples, Skin biopsy
- Where
- France
- Volunteers
- 18 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Sleep Apnea, Obstructive
Dissection of Differentially Expressed Genes and Pathways in Patients With OSAS Before and After CPAP Treatment
Specific Aim 1. To verify the differentially expressed genes and pathways between normal and OSA patients, and OSA patients before and after CPAP treatment.
- Trial name
- NCT00498732
- Testing
- CPAP
- Where
- Taiwan
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- National Taiwan University Hospital
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
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
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
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