Clinical trials: Genetic Conditions
Atopic Dermatitis, Psoriasis
Analytical Validation of Wrist-Based Assessment of Nocturnal Scratch in Atopic Dermatitis and Psoriasis
Pruritis is a common symptom in patients with atopic dermatitis and psoriasis. Patients with atopic dermatitis and psoriasis often report pruritis-associated sleep impairments and scratching behaviors during nighttime and the…
- Trial name
- DECODE-Scratch (NCT06448689)
- Where
- France
- Volunteers
- 90 people
- Sponsor
- ActiGraph L.L.C
Postoperative Complication, Recovery, Physiological
Assessment of the Impact of Intestinal Gas Emission Quality on the Postoperative Course After Abdominal Surgery
The recovery of transit after surgery is an important parameter in postoperative evaluation. It generally reflects simple postoperative outcomes and allows the patient to return home.
- Trial name
- FLATQUAL (NCT06675097)
- Where
- 2 sites in France
- Volunteers
- 200 people
- Sponsor
- University Hospital, Angers
Alkaptonuria
Suitability of Nitisinone in Alkaptonuria 2
This is a proposal to develop the orphan designated drug, nitisinone, for the treatment of a rare Mendelian disease, Alkaptonuria (AKU).
- Trial name
- SONIA 2 (NCT01916382)
- Testing
- Nitisinone
- Where
- United Kingdom
- Volunteers
- 140 people
- Sponsor
- University of Liverpool
DM1, Myotonic Dystrophy
Global Study of Del-desiran for the Treatment of DM1
A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Global Study to Evaluate the Efficacy and Safety of Intravenous Delpacibart Etedesiran (abbreviated del-desiran, formerly AOC 1001) for the Treatment of Myotonic Dystrophy…
- Conditions
- DM1, Myotonic Dystrophy, Myotonic Dystrophy 1, Myotonia
- Trial name
- HARBOR (NCT06411288)
- Testing
- AOC 1001 (del-desiran)
- Where
- 34 sites in United States, Canada and 8 more
- Volunteers
- 159 people
- Sponsor
- Avidity Biosciences, Inc.
Diabetes Mellitus, Type 2
Effect of a Postbiotic Intake on Glucose Control and Microbiota Composition of Type 2 Diabetic Subjects: a Randomized Controlled Trial.
The goal of this randomized clinical trial is to evaluate the effect of the administration of a postbiotic on glycemic control, insulin resistance and microbiota composition in subjects with type 2 diabetes.
- Trial name
- Diabet2Predict (NCT06448182)
- Testing
- Postbiotic
- Where
- 3 sites in Spain
- Volunteers
- 106 people
- Sponsor
- Clinica Universidad de Navarra, Universidad de Navarra
Cerebral Infarction, G6PD Deficiency
G6PD Deficiency in Infarction Patients in Shaanxi Province
Cerebral infarction brings heavy burden to patients and families with high morbidity, mortality, disability and recurrence rate.
- Trial name
- GPS-IP (NCT05026489)
- Testing
- G6PD gene deficiency
- Where
- China
- Volunteers
- 1,000 people
- Sponsor
- First Affiliated Hospital Xi'an Jiaotong University
Postoperative Pain
Effect of Mu-opioid Receptor Genetics on 3 Doses of Spinal Morphine for Postoperative Analgesia After Cesarean Section
HYPOTHESIS: The response to a given dose of morphine given via a spinal anesthetic for cesarean section will be affected by the genetics of the woman's mu-opioid receptor Most women undergoing elective cesarean section (CS)…
- Trial name
- NCT01465191
- Testing
- Morphine
- Where
- 2 sites in United States
- Volunteers
- 169 people
- Sponsor
- Columbia University
Cystinosis
Neuromuscular Characterisation in Late Adolescent and Adult Cystinosis Patients
The primary objective of the study is to evaluate the change in motor function of patients with cystinosis. The secondary objectives of the study: assessment of the respiratory function; assessment of the muscle function…
- Trial name
- Cystinose (NCT05545774)
- Where
- 2 sites in France
- Volunteers
- 20 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Genetic Predisposition, Cancer
Genetic Investigation of Cancer Predisposition
Clinical information and samples (blood, saliva, and tumor) will be collected from patients with multiple cancers and/or a family history of cancer as well as from affected and unaffected relatives; samples will be systematically…
- Trial name
- NCT04620278
- Testing
- DNA or RNA Sequencing
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- The University of Texas Health Science Center at San Antonio
Rare Diseases, Genetic Predisposition
Mitochondrial Diseases - Long-read Genome and Transcriptome Sequencing in Cases Unresolved After Short-read Genomics
The MiDiSeq project will enroll 20 unresolved index patients with suspected mitochondrial disease prioritized for genomic analysis.
- Trial name
- NCT03962452
- Testing
- Next Generation Sequencing (NGS)
- Where
- Germany
- Volunteers
- 20 people
- Sponsor
- University Hospital Tuebingen
Fitness Trackers, Sedentary Behavior
Intervention Study: Genetic Risk Communication and Wearables
This study aims to determine the effects of communicating genetic risk for type 2 diabetes (T2D) alone or in combination with goal setting and prompts from a wearable device on objectively measured physical activity (PA) and…
- Conditions
- Fitness Trackers, Sedentary Behavior, Exercise, Genetic Predisposition to Disease
- Trial name
- NCT04879758
- Testing
- Genetic Risk Estimate, Genetic Risk Estimate + Fitbit Functions
- Where
- Hong Kong
- Volunteers
- 150 people, healthy volunteers welcome
- Sponsor
- The University of Hong Kong
Cancer, Genetic Predisposition
Value of Information of Secondary dAta in ONCOGEnetics
VISAGE-ONCO study is a qualitative transversal study aiming to identify and describe processes and mechanisms that explain in cancerology the feelings and experience of patients and health professionals with regard to the…
- Conditions
- Cancer, Genetic Predisposition, Secondary Fundings
- Trial name
- VISAGE-ONCO (NCT04972409)
- Where
- France
- Volunteers
- 70 people
- Sponsor
- Centre Georges Francois Leclerc
Aphasia
Genetic and Cognitive Predictors of Aphasia Treatment Response
Aphasia, or language impairment after a stroke, affects approximately 2 million people in the United States, with an estimated 180,000 new cases each year.
- Trial name
- NCT05179538
- Testing
- Cued picture-naming therapy
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Ohio State University
Fed
Galantamine Bioequivalence Study of Dr. Reddy's Under Fed Condition
Galantamine Hydrobromide Tablets, Bioequivalence study of Dr. Reddy's under Fed condition.
- Trial name
- NCT01372306
- Testing
- Reminyl
- Volunteers
- 24 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Muscular Dystrophy, Duchenne, Ambulatory Care
Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD)
The aim of this Phase III study was to assess the efficacy of idebenone on pulmonary function, motor function, muscle strength and quality of life in patients with DMD.
- Trial name
- DELOS (NCT01027884)
- Testing
- Idebenone
- Where
- 23 sites in United States, Austria and 8 more
- Volunteers
- 65 people
- Sponsor
- Santhera Pharmaceuticals
Mild Cognitive Impairment, Dementia
COMPARATIVE EFFECTIVENESS OF MCI and DEMENTIA TREATMENTS IN A COMMUNITY-BASED DEMENTIA PRACTICE
This retrospective study is a more extensive, confirmatory analysis of the cognitive and functional outcomes initially seen in 2 groups of MCI/dementia patients in Springfield, MA and compares specialized dementia care and a…
- Conditions
- Mild Cognitive Impairment, Dementia, Hypoxia, Hyperhomocysteinemia
- Trial name
- NCT02860338
- Volunteers
- 900 people
- Sponsor
- Clionsky Neuro Systems Inc.
Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation
The KHENEREXT Study
This is an open-label, multi-centre study in subjects with a genetically confirmed mitochondrial deoxyribonucleic acid (DNA) transfer ribonucleic acid (tRNA)Leu(UUR) m.3243A>G mutation who completed study KH176-202.
- Conditions
- Mitochondrial Diseases, Mitochondrial DNA tRNALeu(UUR) m.3243A<G Mutation, Maternally Inherited Diabetes and Deafness (MIDD), Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke Like Episodes (MELAS)
- Trial name
- NCT04604548
- Testing
- Oral administration of 100 mg KH176 twice daily
- Where
- 4 sites in Denmark, Germany and 2 more
- Volunteers
- 11 people
- Sponsor
- Khondrion BV
Splenomegaly, Splenectomy
Study of the Prevalence of Acid Sphingomyelinase Deficiency/Niemann Pick AB and B Disease in Patients With Diffuse Interstitial Lung Disease
The goal of this clinical trial is to optimise and facilitate screening for Acid SphingoMyelinase Deficiency (ASMD) disease, by evaluating acid sphingomyelinase activity and, where appropriate, LysoSM levels in a cohort of 200…
- Conditions
- Splenomegaly, Splenectomy, Thrombopenia, Interstitial Lung Disease (ILD)
- Trial name
- Niemann-PID (NCT06869499)
- Testing
- Blood sampling for dosage
- Where
- France
- Volunteers
- 200 people
- Sponsor
- Wladimir MAUHIN, Dr
Alpha 1-Antitrypsin Deficiency
Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin Deficiency
Individuals with a deficiency of the Alpha 1-antitrypsin (AAT) protein are at risk for developing emphysema and liver damage. Researchers have developed a way to introduce normal AAT genes into muscle cells so that the AAT…
- Trial name
- NCT00377416
- Testing
- rAAV2-CB-hAAT Gene Vector
- Where
- 2 sites in United States
- Volunteers
- 12 people
- Sponsor
- University of Massachusetts, Worcester
Surgical Wound Dehiscence, Cutis Laxa
Use of 2-octyl-cyanoacrylate Together With a Self-adhering Mesh
The investigators prospectively studied the results of wound closure after abdominoplasty with randomized use of PrineoTM and conventional suturing to assess the possible difference in outcome between these two methods.Follow-up…
- Conditions
- Surgical Wound Dehiscence, Cutis Laxa, Wound of Skin
- Trial name
- NCT01658163
- Volunteers
- 2 people
- Sponsor
- Medical University of Graz
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