Clinical trials: Genetic Condition
Muscular Dystrophies, Muscle Myopathies
Genetic and Physical Study of Childhood Nerve and Muscle Disorders
Background: Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known.
- Conditions
- Muscular Dystrophies, Muscle Myopathies, Hereditary Spastic Paraplegias, Inherited Neuropathies
- Trial name
- NCT01568658
- Where
- United States
- Volunteers
- 2,586 people
- Sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)
Atopic Dermatitis
Texting Atopic Dermatitis Patients to Optimize Learning and EASI Scores
The purpose of this study is to determine if sending text messages with treatment reminders and facts regarding atopic dermatitis (AD) to caretakers of children with AD will have a positive effect on the disease severity.
- Trial name
- TADPOLES (NCT02779426)
- Testing
- Text messages
- Where
- United States
- Volunteers
- 84 people, healthy volunteers welcome
- Sponsor
- Columbia University
Thyroid Eye Disease
A Study of TEPEZZA® Treatment in Participants With Thyroid Eye Disease
The main goal of this study is to learn how teprotumumab will be processed in the body (Pharmacokinetics) subcutaneously and whether it is safe and tolerable after administration into adult patients with thyroid eye disease.
- Trial name
- NCT06389578
- Testing
- Teprotumumab
- Where
- 3 sites in United States
- Volunteers
- 16 people
- Sponsor
- Amgen
Charcot Marie Tooth Disease (CMT), Pes Cavovarus
Walking Function Outcomes Following Surgical Correction With Rehabilitation Versus Physical Therapy Alone in Charcot-Marie-Tooth Disease: A Bidirectional Cohort Study
The goal of this study is to compare changes in walking ability in people with Charcot-Marie-Tooth disease (CMT) who receive two different treatment approaches for foot deformities that affect walking.
- Conditions
- Charcot Marie Tooth Disease (CMT), Pes Cavovarus, Surgery, Exercise Training
- Trial name
- CMT-WALK (NCT07432035)
- Testing
- Functional Surgery plus Rehabilitation, Physical Exercise
- Volunteers
- 200 people
- Sponsor
- Peking University Third Hospital
Hemophilia
Bleeding Symptoms of Carriers of Hemophilia A and B
To collect and analyze data on female carriers of severe and moderate hemophilia A and B.
- Trial name
- NCT01029808
- Where
- Sweden
- Volunteers
- 126 people
- Sponsor
- Sahlgrenska University Hospital
Colorectal Neoplasms
A Study of Nivolumab-relatlimab Fixed-dose Combination Versus Regorafenib or TAS-102 in Participants With Later-lines of Metastatic Colorectal Cancer
The purpose of this study is to evaluate relatlimab in combination with nivolumab, administered as a fixed-dose combination (nivolumab-relatlimab FDC, also referred to as BMS-986213) for the treatment of non-microsatellite…
- Trial name
- RELATIVITY-123 (NCT05328908)
- Testing
- Nivolumab-relatlimab FDC, Regorafenib, TAS-102
- Where
- 139 sites in United States, Argentina and 20 more
- Volunteers
- 769 people
- Sponsor
- Bristol-Myers Squibb
Methicillin-Resistant Staphylococcus Aureus, Atopic Dermatitis
The Underlying Mechanisms For S. Aureus Infection And Colonization Of Skin in People With Atopic Dermatitis With And Without Eczema Herpeticum (MRSA)
Staphylococcus aureus (S.aureus) is a bacterium that causes many painful skin and soft tissue conditions, such as scalded-skin syndrome, boils, or impetigo.
- Conditions
- Methicillin-Resistant Staphylococcus Aureus, Atopic Dermatitis, Eczema Herpeticum, MRSA
- Trial name
- MRSA (NCT00822276)
- Where
- 2 sites in United States
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Huntington Disease
A Study to Evaluate the Safety and Efficacy of PTC518 in Participants With Huntington's Disease (HD)
The primary goal of this study is to evaluate the safety and pharmacodynamic effects of PTC518 compared with placebo in participants with HD.
- Trial name
- NCT05358717
- Testing
- PTC518
- Where
- 28 sites in United States, Australia and 9 more
- Volunteers
- 159 people
- Sponsor
- Novartis Pharmaceuticals
Turner Syndrome
Is There a Link Between Inflammation and Endocrinopathies in Turner Syndrome?
Liver abnormalities are common in Turner syndrome. The physiopathology of these abnormalities is unknown for the moment but their potentially serious evolution requires additional explorations.
- Trial name
- NCT05473091
- Testing
- no intervention
- Where
- France
- Volunteers
- 179 people
- Sponsor
- Central Hospital, Nancy, France
Beta-Thalassemia
A Study With LJPC-401 for the Treatment of Myocardial Iron Overload in Patients With Transfusion-Dependent Beta Thalassemia
This study is a Phase 2 multicenter, randomized, open-label, parallel-group study. The primary objective of the study is to evaluate the effect of LJPC-401 (synthetic human hepcidin) on iron levels in patients with…
- Trial name
- NCT03381833
- Testing
- LJPC-401
- Where
- 22 sites in United States, Australia and 6 more
- Volunteers
- 84 people
- Sponsor
- La Jolla Pharmaceutical Company
Muscular Dystrophies
Diaphragm Ultrasound in Neuromuscular Disorders
Muscular dystrophies are neurologic disease with higher morbidity and mortality. Cardiac function and respiratory muscles can be affected, in addition with skeletal muscle deficiency .
- Trial name
- NCT04045158
- Where
- France
- Volunteers
- 1,000 people
- Sponsor
- Centre d'Investigation Clinique et Technologique 805
Fabry Disease
Open-Label Extension Study of the Long-Term Effects of Migalastat HCL in Patients With Fabry Disease
This is an open-label extension study intended to provide continued treatment with migalastat hydrochloride (HCl) for participants with Fabry disease who completed treatment of a previous migalastat HCl study.
- Trial name
- NCT02194985
- Testing
- migalastat HCl 150 mg
- Where
- 28 sites in United States, Argentina and 13 more
- Volunteers
- 84 people
- Sponsor
- Amicus Therapeutics
Erythropoietic Protoporphyria
Sorbent Therapy of the Cutaneous Porphyrias
The investigators demonstrated that cholestyramine is an effective binding agent in vitro for porphyrins. A few isolated case reports of treatment of individuals with a cutaneous porphyria suggest that cholestyramine and…
- Trial name
- EPP (NCT01422915)
- Testing
- Colestipol
- Where
- United States
- Volunteers
- 4 people, healthy volunteers welcome
- Sponsor
- Brigham and Women's Hospital
Glycogen Storage Disease Type II, Pompe Disease
A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II
GSD-II (also known as Pompe disease) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA).
- Conditions
- Glycogen Storage Disease Type II, Pompe Disease, Acid Maltase Deficiency Disease, Glycogenosis 2
- Trial name
- NCT00051935
- Testing
- Alglucosidase alfa
- Where
- United States
- Volunteers
- 2 people
- Sponsor
- Genzyme, a Sanofi Company
Urea Cycle Disorder, Inborn Errors of Metabolism
A Collection of Case Studies in Infants With UCD to Evaluate Infant Growth and the Safety of a New Medical Food for UCD
Original study: Study aims to enroll 3-5 children with confirmed Urinary Cycle Disorder (UCD). Subjects meeting the inclusion and exclusion criteria are included during the baseline visit.
- Trial name
- NCT03911089
- Testing
- UCD Anamix Infant
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- Nutricia Research
Friedreich's Ataxia
An Open-label Study of the Effects of Acetyl-L-Carnitine on Cardiovascular Outcomes in Friedreich's Ataxia
The purpose of this study is to learn how treatment with acetyl-L-carnitine (ALCAR) will affect the hearts of patients with Friedreich's Ataxia as well as how it may affect other symptoms of Friedreich's Ataxia such as…
- Trial name
- NCT01921868
- Testing
- Acetyl-L-Carnitine
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of South Florida
Genetic Disease, Neurologic Disorder
Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles
Patients with neurodevelopmental diseases and their families need to identify the genetic cause of the disease to allow for recognition of the disability, genetic counseling, and possible hope for participation in therapeutic…
- Conditions
- Genetic Disease, Neurologic Disorder, Developmental Delay Disorder, Growth Disorders
- Trial name
- HiFi-NDD (NCT05643274)
- Where
- 5 sites in France
- Volunteers
- 10 people
- Sponsor
- Nantes University Hospital
Bleeding Disorder, Knee Injuries
Protection of Knee Joints in Bleeding Disorder Patients
INTRODUCTION Knee supports, usually made with sponge cushion, are used to protect knee joint and prevent its injury. Sponge has less elasticity and durability compared with natural rubber.
- Conditions
- Bleeding Disorder, Knee Injuries, Hemophilia
- Trial name
- NCT06039904
- Testing
- Natural rubber knee support, Sponge knee support
- Where
- Thailand
- Volunteers
- 44 people
- Sponsor
- Ramathibodi Hospital
Urothelial Carcinoma, Lynch Syndrome
Urothelial Cancer Screening in Individuals With Lynch Syndrome Using a Urine Tumor DNA Panel (LS-URO Study)
Lynch syndrome (LS) is an inherited cancer predisposition syndrome caused by pathogenic germline variants in DNA mismatch repair (MMR) genes.
- Trial name
- NCT06218433
- Testing
- Urothelial cancer screening using urine tumor DNA test, Urothelial cancer screening using urine cytology (comparator)
- Where
- 2 sites in Canada, Finland
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Tampere University Hospital
Retinoblastoma
Intra-arterial Chemotherapy(Chemosurgery) for Retinoblastoma
Conventional treatments of retinoblastoma involves laser photocoagulation, cryotherapy (freezing of the tumor), plaque radiotherapy,external beam radiotherapy, and intravenous chemotherapy.
- Trial name
- Chemosurgery (NCT00901238)
- Testing
- Intra-arterial Chemotherapy
- Where
- 2 sites in United States
- Volunteers
- 100 people
- Sponsor
- Weill Medical College of Cornell University