Clinical trials: Hereditary Disease
Cleft Lip and Palate
Liposomal Bupivacaine Use in Alveolar Bone Graft Patients
The goal of this clinical trial is to learn if a pain medication called liposomal bupivacaine (brand name EXPAREL®) with epinephrine will provide better pain control, increased activity, and reduced use of opioids compared with…
- Trial name
- NCT06284434
- Testing
- Liposomal Bupivacaine, Bupivacain, Epinephrine
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- Kerry O'Rourke
Venous Malformation, Lymphatic Malformation
Weekly Sirolimus Therapy
In current practice, options for venous and lymphatic malformations remain limited. Recently an oral medication, sirolimus, has been found to benefit patients when taken once or twice a day for several months.
- Trial name
- NCT04861064
- Testing
- Sirolimus
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Medical University of South Carolina
Sickle Cell Disease
Assessing Physical Function in Sickle Cell Patients Taking Voxelotor
Voxelotor is a novel hemoglobin polymerization inhibitor which has been demonstrated to reduce hemolysis and improve hemoglobin levels.
- Trial name
- NCT06023199
- Testing
- Voxelotor
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- Inova Health Care Services
GM1 Gangliosidosis
Interviews and Video Capture in Patients With GM1 Gangliosidosis
GM1 gangliosidosis is a rare disease for which there is a limited understanding of disease progression and meaningful outcome measures.
- Trial name
- NCT04310163
- Testing
- Natural history
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- LYSOGENE
Spina Bifida
The Study Aims to Improve the Accuracy of Detecting Spina Bifida During Early Ultrasound Scans. to Achieve This, an AI Model Has Been Developed to Provide Feedback About the Presence of Spina Bifida. a RCT Has Been Designed to Compare the Effectiveness of AI Feedback with No AI Feedback.
The study aims to improve the accuracy of detecting spina bifida during early ultrasound scans. To achieve this, an AI model has been developed to provide feedback about the presence of spina bifida.
- Trial name
- NCT06566014
- Testing
- Evaluation of XAI-assisted spina bifida diagnosis
- Where
- Denmark
- Volunteers
- 38 people, healthy volunteers welcome
- Sponsor
- Copenhagen Academy for Medical Education and Simulation
Lynch Syndrome
NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome
This study compares two colonoscopy techniques (with Narrow Band Imaging versus with indigo carmine chromoendoscopy) in patients having Lynch Syndrome
- Trial name
- LYNCH-CHROMO (NCT02570516)
- Testing
- Colonoscopy
- Where
- 7 sites in France
- Volunteers
- 141 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Cystic Fibrosis
Coping Compliance and Adjustment in Adolescents With Cystic Fibrosis
In this research, we will use established surveys to look at the relationship between various styles of coping with a disease, religious coping styles, treatment compliance, locus of control, broad measures of mental health and…
- Trial name
- NCT00577252
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Akron Children's Hospital
Beta-Thalassemia
Thrombophilia In Beta Thalassemia
β-thalassemia disease is one of the most common congenital hemolytic anemia commonly found in the malarial belt areas including the Mediterranean, the Middle East, Africa, Southeast Asian countries, and China.
- Trial name
- NCT04219449
- Testing
- PT, Protein C, Platelet aggregation by ADP and arachidonic acid
- Volunteers
- 100 people
- Sponsor
- Assiut University
Sickle Cell Crisis
Evaluation of the Efficacy of Intra-nasal Sufentanil for Analgesia of Vaso-occlusive Crisis in Sickle-cell Adults.
The analgesic treatment for vaso-occlusive crisis (VOC) in sickle-cell patients is an emergency. The reference treatment is morphine, which requires a venous way sometimes difficult to obtain in these patients.
- Trial name
- DREPSUFINDOL (NCT04076748)
- Testing
- Sufentanil, EMONO
- Where
- 8 sites in France, French Guiana and 1 more
- Volunteers
- 115 people
- Sponsor
- University Hospital, Bordeaux
Neonatal Abstinence Syndrome, Substance Withdrawal, Neonatal
The Effect of Music Therapy on Newborns
The clinical study is evaluating the impact of music therapy on neonates, specifically infants with neonatal opioid withdrawal syndrome (NOWS).
- Trial name
- NCT03987165
- Testing
- Music Therapy
- Where
- United States
- Volunteers
- 42 people, healthy volunteers welcome
- Sponsor
- Tulane University
Cystic Fibrosis
Developing and Validating a Patient-reported Outcome Instrument to Monitor Symptom Management in Pulmonary Exacerbation in CF
The aim of this study is to develop a reliable and valid instrument to measure symptom management (experience and / or management strategies) during exacerbation episodes in CF patients.
- Trial name
- NCT02464267
- Where
- Switzerland
- Volunteers
- 18 people
- Sponsor
- University of Zurich
Neutropenia, Sickle Cell Anemia
Study of Allogeneic Bone Marrow Transplantation Using Matched, Related Donors in Patients With Nonmalignant Hematologic Disorders
OBJECTIVES: I. Determine the efficacy of bone marrow transplantation using matched related donors in patients with nonmalignant hematologic disorders. II.
- Conditions
- Neutropenia, Sickle Cell Anemia, Thalassemia Major, Red-Cell Aplasia, Pure
- Trial name
- NCT00005893
- Testing
- anti-thymocyte globulin, busulfan, cyclophosphamide
- Where
- United States
- Sponsor
- Fairview University Medical Center
End Stage Renal Disease, Arteriovenous Fistula
Effect of Pre-operative Forearm Exercises on Arterial Venous Fistula Maturation and Blood Flow
This study will investigate the effect of pre-operative exercise on hemodynamics in the fistula artery and vein, Pre and Post Arteriovenous Fistula Formation as well as the suitability of Cannulation of Arteriovenous Fistula at…
- Trial name
- NCT03886116
- Testing
- Exercise
- Where
- Singapore
- Volunteers
- 40 people
- Sponsor
- Singapore General Hospital
Arrhythmogenic Cardiomyopathy, PKP2-ACM
A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM
An observational study to assess real-world patient characteristics and clinical course of disease in participants with PKP2-ACM.
- Conditions
- Arrhythmogenic Cardiomyopathy, PKP2-ACM, PKP2-ARVC
- Trial name
- SNAPSHOT- PKP2 (NCT06976606)
- Where
- 6 sites in United States
- Volunteers
- 40 people
- Sponsor
- Lexeo Therapeutics
Hypoparathyroidism, Pseudo Hypoparathyroidism
QoL and Cognitive Function in Patients With Hypoparathyroidism
Hypoparathyroidism (HypoPT) is a disease with inadequate production of parathyroid hormone (PTH) from the parathyroid glands leading to hypocalcemia.
- Trial name
- MR-hypoPT (NCT04569604)
- Testing
- MRI scans, Neuro cognitive tests, Questionnaires on Quality of Life
- Where
- Denmark
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
GM2 Gangliosidosis, Niemann-Pick Type C Disease
A Study to Evaluate the Safety and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann-Pick Type C Disease
This open-label study aims to gather long-term safety, tolerability, PK, biomarker, and clinical efficacy data relating to daily administration of Nizubaglustat in participants previously enrolled in the Phase 2 RAINBOW study…
- Trial name
- PRISMA (NCT07399704)
- Testing
- AZ-3102
- Where
- 3 sites in Brazil
- Volunteers
- 21 people
- Sponsor
- Azafaros B.V.
Ischemic Stroke, Embolic Stroke of Undetermined Source
SENIOR: Stroke Prevention in the Elderly by Patent Foramen Ovale closuRe vs Anticoagulation
Patent foramen ovale (PFO) is an important mechanism of embolic stroke of undetermined source (ESUS). Current guidelines recommend PFO closure for high-risk PFO in patients younger than 60 years, and a recent retrospective cohort…
- Conditions
- Ischemic Stroke, Embolic Stroke of Undetermined Source, Patent Foramen Ovale (PFO), Elderly
- Trial name
- SENIOR (NCT07479147)
- Testing
- PFO closure, Medication
- Where
- 3 sites in Taiwan
- Volunteers
- 400 people
- Sponsor
- Taichung Veterans General Hospital
Hemophilia A
An Observational Study to Learn More About How Well Damoctocog Alfa Pegol Works in Previously Treated Children With Hemophilia A
This is an observational study of children with mild, moderate, or severe hemophilia A who are receiving damoctocog alfa pegol, and are between 7 to <12 years of age at the time of enrolment.
- Trial name
- HEM-POWR Kids (NCT07088458)
- Testing
- Damoctocog alfa pegol (Jivi, Bay94-9027)
- Where
- 12 sites in United States, Brazil and 9 more
- Volunteers
- 40 people
- Sponsor
- Bayer
Patent Foramen Ovale, PFO
Lifetech Cera™ PFO Occluder Post-Market Clinical Follow-Up
The objective of this post-market registry is to assess the clinical use of the Lifetech Cera™ PFO Occluder in a real-world and on-label fashion.
- Trial name
- NCT05893758
- Testing
- The Cera™ PFO Occluder
- Where
- 5 sites in Poland
- Volunteers
- 94 people
- Sponsor
- Lifetech Scientific (Shenzhen) Co., Ltd.
Hemophilia A
Evaluation of the Safety and Efficacy of Hemophilia A Gene Therapy Drugs
This is a multi-center, Phase 1/2/3, single-arm, open-label, single-dose treatment clinical study to evaluate the safety, tolerability and efficacy of BBM-H803 injection in severe Hemophilia A subjects.
- Trial name
- NCT06111638
- Testing
- Single dose intravenous injection of BBM-H803
- Where
- 10 sites in China
- Volunteers
- 55 people
- Sponsor
- Shanghai Xinzhi BioMed Co., Ltd.