Clinical trials: Congenital Malformation
Lafora Disease
A Safety and Efficacy of Intrathecally Administered ION283 in Patients With Lafora Disease
This study will test the safety and efficacy of multiple doses of ION283 administered as intrathecal (IT) injections by lumbar puncture (LP). All subjects will receive ION283.
- Trial name
- Lafora (NCT06609889)
- Testing
- ION283
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Berge Minassian
ATTR Amyloidosis Wild Type, ATTR Gene Mutation
ATTR Cardiac Amyloidosis in a Selected Population
Patients operated for carpal tunnel syndrome (CTS) at Ålesund Hospital (200 patients) will have a biopsy to diagnose ATTR amyloidosis. Patients with positive biopsy will be examined to decide wether they have cardiac amyloidosis.
- Conditions
- ATTR Amyloidosis Wild Type, ATTR Gene Mutation, Carpal Tunnel Syndrome, Cardiac Amyloidosis
- Trial name
- NCT06458374
- Where
- Norway
- Volunteers
- 180 people
- Sponsor
- Helse Møre og Romsdal HF
Bicuspid Aortic Valve (BAV), Aortic Aneurysm
Research on Aneurysm Growth Prediction in Vascular Dilation Caused by Bicuspid Aortic Valve Based on VDM and CFD
Bicuspid aortic valve (BAV) is the most common congenital valvular malformation, characterized by heterogeneous phenotypic subtypes that predispose patients to secondary aortic pathologies, including valvular dysfunction and…
- Conditions
- Bicuspid Aortic Valve (BAV), Aortic Aneurysm, TAVR
- Trial name
- NCT07782918
- Testing
- Transcatheter Aortic Valve Replacement
- Where
- 2 sites in China
- Volunteers
- 1,000 people
- Sponsor
- Second Affiliated Hospital, Zhejiang University, School of Medicine
Neonatal Sepsis
Clinical Value of Metagenomic Sequencing in Neonatal Sepsis
This study aimed to enroll 2000 neonatal patients with suspected sepsis or clinical diagnosed sepsis. These patients will undergo both conventional methods and metagenomics sequencing to detect the pathogenic microorganisms of…
- Trial name
- NCT05416918
- Where
- China
- Volunteers
- 200 people
- Sponsor
- Children's Hospital of Fudan University
Cystic Fibrosis, Chronic Pancreatitis
Study to Evaluate Symptoms of Exocrine Pancreatic Insufficiency in Adult Participants With Cystic Fibrosis or Chronic Pancreatitis Treated With Creon
Exocrine pancreatic insufficiency (EPI) is a condition that is caused by the inadequate pancreatic enzymes needed for normal digestion and is commonly associated with a wide range of chronic diseases, including cystic fibrosis…
- Trial name
- NCT05069597
- Testing
- CREON
- Where
- 21 sites in United States
- Volunteers
- 30 people
- Sponsor
- AbbVie
Healthy Volunteers, Atopic Dermatitis
A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome
The study is divided in 3 parts, starting with the safety assessment of BPR277 ointment in Healthy volunteers (Part 1). If found to be well tolerated in Part 1, BPR277 ointment will be assessed in two different patients groups to…
- Conditions
- Healthy Volunteers, Atopic Dermatitis, Netherton Syndrome
- Trial name
- 3 (NCT01428297)
- Testing
- BPR277 ointment (controlled application), BPR277 ointment, BPR277
- Where
- 4 sites in United States, Netherlands
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Novartis Pharmaceuticals
Neonatal Screening, Kernicterus
Bilistick Point-of-care System 2.0 Bilirubin Validation
This is a validation study involving the Bilistick System 2.0 point-of-care bilirubin measuring device. The validation will be conducted by comparing bilirubin measurements utilizing the standard-of-care blood sample collected…
- Conditions
- Neonatal Screening, Kernicterus, Newborn Jaundice, Point-of-Care Testing
- Trial name
- NCT06058910
- Testing
- Bilistick System 2.0 point-of-care testing device
- Where
- United States
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- Kettering Health Network
Aortic Valve Disease
Podocan and Wnt Pathway in the Development of Aortopathy in Bicuspid Valve Disease
Bicuspid Aortic Valve (BAV) disease is a common cardiac anomaly that is associated with valvular abnormalities, both stenosis and regurgitation, and aortopathy.
- Trial name
- NCT02806310
- Testing
- Blood draw
- Where
- United States
- Volunteers
- 29 people
- Sponsor
- Bassett Healthcare
Nurse's Role, Infantile Colic
Interventional Practices and Their Effectiveness in Infants With İnfantyl Colic
Infantile colic is a developmental disorder that reduces comfort levels in infants with intense crying crises and has negative effects on the infant and family.
- Trial name
- NCT06299358
- Testing
- Foot massage, Mother heart sound, Foot massage and maternal heart sound
- Where
- Turkey (Türkiye)
- Volunteers
- 90 people
- Sponsor
- Karamanoğlu Mehmetbey University
Acute Myeloid Leukemia, Chronic Myelomonocytic Leukemia
A Study to Evaluate S241656 Alone or in Combination in Participants With Selected Myeloid Malignancies
The objective of this study is to evaluate the safety, tolerability, and pharmacokinetics (PK) of S241656 and to determine the recommended dose for expansion (RDE) of S241656 in participants with relapsed/refractory (R/R) acute…
- Conditions
- Acute Myeloid Leukemia, Chronic Myelomonocytic Leukemia, Myelodysplastic Syndrome Acute Myeloid Leukemia
- Trial name
- NCT07719348
- Testing
- S241656, Posaconazole
- Volunteers
- 64 people
- Sponsor
- Servier
Phenylketonuria (PKU)
A Long-term, Post-marketing Safety Study of Palynziq in Patients With PKU (PALace)
This is a 10-year multi-center, global, observational study to further characterize the safety profile of pegvaliase, including hypersensitivity reactions, long-term safety and tolerability, and the effectiveness of the…
- Trial name
- PALace (NCT05813678)
- Testing
- Pegvaliase
- Where
- 26 sites in United States, Germany and 1 more
- Volunteers
- 450 people
- Sponsor
- BioMarin Pharmaceutical
Methylmalonic Acidemia, Propionic Acidemia
Natural History Study of Patients With Methylmalonic Acidemia and Propionic Acidemia
The JUMP (Journey to Understand MMA and PA) Study is being conducted by HemoShear Therapeutics and AllStripes, a rare disease online research platform.
- Trial name
- JUMP (NCT05438485)
- Testing
- Registry
- Where
- 3 sites in United States, Canada and 1 more
- Volunteers
- 11 people
- Sponsor
- HemoShear Therapeutics
Retinitis Pigmentosa
Safety and Tolerability of Intravitreal Administration of VG901 in Patients With Retinitis Pigmentosa Due to Mutations in the CNGA1 Gene
The goal of this phase 1 clinical trial is to learn about the safety and efficacy of a gene therapy, VG901, in patients with a rare disorder of the eye called Retinitis Pigmentosa.
- Trial name
- NCT06291935
- Testing
- VG901
- Where
- Germany
- Volunteers
- 6 people
- Sponsor
- VeonGen Therapeutics GmbH
Pruritus, Atopic Dermatitis
Study to Assess the Clinical Activity of a Sequential Dose of REGN846 on Refractory Pruritus in Patients With Atopic Dermatitis
The purpose of this study is to assess the clinical activity on refractory moderate-to-severe pruritus of a single intravenous (IV) dose of REGN846 in adult patients with moderate-to-severe atopic dermatitis (AD).
- Trial name
- NCT01605708
- Testing
- REGN846
- Where
- 14 sites in Finland, Germany and 1 more
- Volunteers
- 19 people
- Sponsor
- Regeneron Pharmaceuticals
Foramen Ovale, Patent
Risk of Ischaemic Stroke After Pulmonary Embolism in Patients With and Without Patent Foramen Ovale
stroke's risk is increased in patients with pulmonary embolism and PFO compared to patients without PFO. Does this increased risk persist years after pulmonary embolism ?
- Trial name
- EPIC-FOPCohort (NCT04987008)
- Where
- 3 sites in France
- Volunteers
- 53 people
- Sponsor
- University Hospital, Brest
Osteogenesis Imperfecta
Osteogenesis Imperfecta Blood Pressure Study
Osteogenesis Imperfecta (OI) is a genetic disorder caused by mutations to the alpha-1 or alpha-2 chain of type I collagen. Clinically, the disorder is characterized by bones that fracture easily, often from little or no apparent…
- Trial name
- NCT04169568
- Testing
- Manual cuff blood pressure
- Where
- United States
- Volunteers
- 50 people, healthy volunteers welcome
- Sponsor
- Nemours Children's Clinic
Osteogenesis Imperfecta
Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study
Osteogenesis imperfecta (OI) is a genetic disease for which there is currently no known cure. OI causes the osteoblasts (bone-forming cells in the body) to grow poorly, which slows the growth of children with the disease and…
- Trial name
- NCT00187018
- Testing
- Bone marrow transplant
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- St. Jude Children's Research Hospital
Von Willebrand Disease (VWD), Von Willebrand Disease (VWD), Type 1
A Study Assessing HMB-002 in Participants With Von Willebrand Disease
This is a first-in-human (FIH), Phase 1/2, 3-part open-label, dose escalation, safety, tolerability, pharmacokinetic (PK), pharmacodynamic (PD), and efficacy study evaluating HMB-002 in participants with VWD.
- Conditions
- Von Willebrand Disease (VWD), Von Willebrand Disease (VWD), Type 1, Von Willebrand Disease (VWD), Type 2, Von Willebrand Disease (VWD), Type 3
- Trial name
- NCT06754852
- Testing
- HMB-002 (Part A), HMB-002 (Part B), HMB-002 with Concomitant Factor Concentrate (Part C) (Not Applicable in US)
- Where
- 25 sites in United States, Australia and 1 more
- Volunteers
- 108 people
- Sponsor
- Hemab ApS
Phenylketonurias
Study to Evaluate the Safety and Efficacy of Phenoptin™ in Subjects With Phenylketonuria Who Have Elevated Phenylalanine Levels
The primary objective of this study is to evaluate the efficacy of Phenoptin™ (sapropterin dihydrochloride) in reducing blood phenylalanine (Phe) levels in subjects with phenylketonuria.
- Trial name
- NCT00104247
- Testing
- sapropterin dihydrochloride, 6R-BH4, tetrahydrobiopterin
- Where
- 13 sites in United States
- Volunteers
- 89 people
- Sponsor
- BioMarin Pharmaceutical
Urinary Incontinence, Menopause
The Effect of Kegel Exercise and Ba Duan Jin Applications on Premenopausal Women With Urinary Incontinence
This study aimed to determine the effects of Kegel exercise and Ba Duan Jin applications applied to premenopausal women with urinary incontinence on quality of life and psychological well-being.
- Conditions
- Urinary Incontinence, Menopause, Wolman Disease, Quality of Life
- Trial name
- NCT06287658
- Testing
- Training on Kegel exercise and Ba Duan Jin applications online, training on Kegel exercises and Ba Duan Jin applications after the research is completed
- Where
- Turkey (Türkiye)
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Ondokuz Mayıs University
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