Clinical trials: Genetic Disorders
Becker Muscular Dystrophy
Tadalafil in Becker Muscular Dystrophy
Summary for Patients: This study, funded by the Muscular Dystrophy Association, is intended to build on recent findings published in the journal Nature showing beneficial effects of tadalafil (also known as Cialis) in mice with…
- Trial name
- NCT01070511
- Testing
- Tadalafil
- Where
- 2 sites in United States
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- Cedars-Sinai Medical Center
Cystic Fibrosis
The Prevalence and Significance of Gastro-oesophageal Reflux in Cystic Fibrosis Before and After Lung Transplantation
Gastro-oesophageal reflux (GOR) has been found to be prevalent in children with cystic fibrosis (CF)and may further worsen lung damage via reflex bronchospasm or pulmonary aspiration.
- Trial name
- NCT00164021
- Testing
- Physiotherapy, exercise, percutaneous gastrostomy feeds, Anti-reflux pharmacotherapy
- Where
- Australia
- Volunteers
- 180 people, healthy volunteers welcome
- Sponsor
- Bayside Health
Cystinuria
TCUPS- Tolvaptan Use in Cystinuria and Urolithiasis: A Pilot Study
The goal of this research project is to establish that in short-term use, tolvaptan is a safe and potentially effective new therapy for cystinuria, by conducting a short-term pilot study of the safety and tolerability of this…
- Trial name
- TCUPS (NCT02538016)
- Testing
- Tolvaptan
- Where
- United States
- Volunteers
- 4 people
- Sponsor
- Caleb Nelson
FSHD, FSHD1
Phase 2 Open-label Extension Study of AOC 1020 in Participants With Facioscapulohumeral Muscular Dystrophy (FSHD)
A Phase 2 Open-label Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of AOC 1020 Administered Intravenously to Participants with Facioscapulohumeral Muscular Dystrophy (FSHD)
- Conditions
- FSHD, FSHD1, FSHD2, FMD
- Trial name
- FORTITUDE-OLE (NCT06547216)
- Testing
- AOC 1020
- Where
- 17 sites in United States, Canada and 1 more
- Volunteers
- 84 people
- Sponsor
- Avidity Biosciences, Inc.
Haemophilia A, Synovitis
Prevalence of Synovitis in Patients With Haemophilia A
The aim of this study is to evaluate the prevalence of synovitis in adult patients with haemophilia A.
- Conditions
- Haemophilia A, Synovitis, Hemophilia Arthropathy, Sonography
- Trial name
- SynoPrev (NCT06352216)
- Testing
- Hemophilia Early Arthropathy Detection with Ultrasound (HEAD-US); Haemophilia joint health score (HJHS)
- Where
- Germany
- Volunteers
- 300 people
- Sponsor
- University Hospital, Bonn
Atopic Dermatitis
Efficacy of Fermented Rice Flour for the Treatment of Atopic Dermatitis
This Study Evaluate the efficacy of the subministration of fermented rice flour (7 g/day) on the clinical course of patients with moderate or severe Atopic Dermatitis, in terms of a reduction in the SCORAD score, during the study…
- Trial name
- NCT03157284
- Testing
- Rice Flour
- Where
- Italy
- Volunteers
- 58 people
- Sponsor
- Heinz Italia SpA
Skin Laxity, Wrinkle
Safety and Efficacy of SofWave Treatment to Lift Lax Tissue in the Submental and Neck Zones and to Lift the Eyebrow
This is a prospective, open label, multi-center, self-controlled clinical study to demonstrate the safety and efficacy of SofWave treatment to lift lax tissue in the submental and neck zones and to lift the eyebrow.
- Conditions
- Skin Laxity, Wrinkle, Brow Lifting
- Trial name
- NCT04146584
- Testing
- Sofwave Treatments
- Where
- 5 sites in United States
- Volunteers
- 93 people, healthy volunteers welcome
- Sponsor
- Sofwave Medical LTD
MELAS Syndrome
Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome
The purpose of this study is to assesses the efficacy of oral supplementation with glutamine over three months on several amino acids and lactate concentration measured in cerebrospinal fluid and cerebral lactate measured by…
- Trial name
- NCT04948138
- Testing
- Glutamine oral supplementation
- Where
- Spain
- Volunteers
- 9 people
- Sponsor
- Jesús González de la Aleja Tejera
Cystic Fibrosis
Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR), which is located at 7q31.2 and encodes 1480 amino acids.
- Trial name
- NCT05599958
- Testing
- sweat chloride test, genetic testing
- Where
- Egypt
- Volunteers
- 152 people
- Sponsor
- Sohag University
Pain
Evaluation of the Tolerability of Switching Subjects on Chronic ATC Opioid Therapy to Buprenorphine HCl Buccal Film
The primary aim of this study is to determine if chronic pain subjects on around-the-clock opioids who are receiving 100 to 220 mg oral morphine sulfate equivalent (MSE) can be safely transitioned on to buprenorphine…
- Trial name
- NCT01871285
- Testing
- Buprenorphine, Oxycodone, Morphine sulfate
- Where
- 3 sites in United States
- Volunteers
- 39 people
- Sponsor
- BioDelivery Sciences International
Fragile X Syndrome, Healthy Volunteers
Protein Synthesis in the Brain of Patients With Fragile X Syndrome
Biosynthesis of proteins is essential for growth and continued maintenance of the entire neuron including axons, dendrites, and synaptic terminals, and it is clearly one of the important biochemical processes underlying adaptive…
- Trial name
- NCT00362843
- Testing
- [15-O]water
- Where
- United States
- Volunteers
- 147 people
- Sponsor
- National Institute of Mental Health (NIMH)
Familial Mediterranean Fever
Rilonacept for Treatment of Familial Mediterranean Fever (FMF)
Familial Mediterranean fever (FMF) is a genetic disease resulting in recurrent attacks of fever, abdominal pain, chest pain, arthritis and rash.
- Trial name
- NCT00582907
- Testing
- Rilonacept
- Where
- 5 sites in United States
- Volunteers
- 14 people
- Sponsor
- The Cleveland Clinic
Atopic Dermatitis
A Study to Evaluate the Safety and Efficacy of Ruxolitinib Phosphate Cream Applied Topically to Adults With Atopic Dermatitis
The purpose of this study is to establish the efficacy of each strength of ruxolitinib cream once daily (QD) or twice daily (BID) in participants with atopic dermatitis as compared with vehicle cream BID.
- Trial name
- NCT03011892
- Testing
- Ruxolitinib 0.15% Cream QD, Ruxolitinib 0.5% Cream QD, Ruxolitinib 1.5% Cream QD
- Where
- 52 sites in United States, Canada
- Volunteers
- 307 people
- Sponsor
- Incyte Corporation
Sickle Cell Disease
Disseminating NIH Evidence Based Sickle Cell Recommendations in North Carolina
This project will improve the efficiency and quality of healthcare for persons with sickle cell disease, an under-served and at risk population by implementing a co-management model of care.
- Trial name
- NCT03253211
- Where
- United States
- Volunteers
- 4,392 people
- Sponsor
- Duke University
Cystic Fibrosis, Constipation
Effect of Lubiprostone on Nutritional Status and Pulmonary Function in Adults With Cystic Fibrosis
Cystic fibrosis (CF) results in thickened secretions in multiple organ systems including the lungs and gastrointestinal (GI) tract.
- Conditions
- Cystic Fibrosis, Constipation, Nutrition
- Trial name
- NCT00577499
- Volunteers
- 7 people
- Sponsor
- University of Arkansas
Cystic Fibrosis
Muscle Accrual and Function in Cystic Fibrosis-Impact of Glucose Intolerance
This study will investigate the link between glucose abnormalities and elements critical to muscle function including mass, composition and energy metabolism.
- Trial name
- NCT02776098
- Where
- 2 sites in United States
- Volunteers
- 54 people, healthy volunteers welcome
- Sponsor
- Children's Hospital of Philadelphia
Familial Hypercholesterolemia - Homozygous
Study to Evaluate Safety, Tolerability and Efficacy of Inclisiran in Children With Homozygous Familial Hypercholesterolemia
This is a pivotal phase III study designed to evaluate safety, tolerability, and efficacy of inclisiran in children (aged 2 to <12 years) with homozygous familial hypercholesterolemia (HoFH) and elevated low density lipoprotein…
- Trial name
- ORION-19 (NCT06597006)
- Testing
- Inclisiran
- Where
- 19 sites in United States, Austria and 9 more
- Volunteers
- 9 people
- Sponsor
- Novartis Pharmaceuticals
Hemophilia A With Inhibitor
Hemophilia Inhibitor Genetics Study (HIGS)
Several non-genetic and genetic factors that could influence the risk of inhibitor development in hemophilia A have been discussed but not fully explored. The aim of the HIGS is to identify these genetic factors.
- Trial name
- NCT00166387
- Testing
- Blood draw
- Where
- Sweden
- Volunteers
- 1,137 people
- Sponsor
- Skane University Hospital
Retinitis Pigmentosa
Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
The purpose of this trial is to determine whether lutein in addition to vitamin A will slow the course of retinitis pigmentosa.
- Trial name
- NCT00346333
- Testing
- Lutein, Cornstarch control
- Where
- United States
- Volunteers
- 240 people
- Sponsor
- National Eye Institute (NEI)
Adrenal Hyperplasia, Congenital
Questionnaire Study to Assess the Outcomes of the Management of Congenital Adrenal Hyperplasia Individuals
This is a questionnaire study involving women and young girls affected by Congenital Adrenal Hyperplasia (CAH) and their parents.
- Trial name
- CAH-MaS (NCT05228652)
- Testing
- Questionnaire
- Where
- United Kingdom
- Volunteers
- 61 people, healthy volunteers welcome
- Sponsor
- Manchester University NHS Foundation Trust