Clinical trials: Congenital Disorders
Severe Combined Immunodeficiency, X-Linked
Lentiviral Gene Therapy for X-linked Severe Combined Immunodeficiency
Severe combined immunodeficiency disorder (SCID) is a heterogeneous group of inherited disorders characterized by a profound reduction or absence of T lymphocyte function, resulting in lack of both cellular and humoral immunity.
- Trial name
- NCT03601286
- Testing
- Lentiviral vector transduced CD34+ cells
- Where
- United Kingdom
- Volunteers
- 5 people
- Sponsor
- Great Ormond Street Hospital for Children NHS Foundation Trust
Unverricht-Lundborg Disease
Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults
The study will compare the efficacy and safety of brivaracetam with placebo in patients with Unverricht-Lundborg disease.
- Trial name
- NCT00357669
- Testing
- Brivaracetam 25 mg, Brivaracetam 50 mg
- Where
- 13 sites in Finland, France and 5 more
- Volunteers
- 50 people
- Sponsor
- UCB Pharma SA
Pectus Excavatum, Funnel Chest
Cryoanalgesia vs. Epidural in the Nuss Procedure
The purpose of this study is to determine whether cryoanalgesia provides better pain control for minimally invasive pectus excavatum repair (the Nuss procedure) than thoracic epidural.
- Trial name
- NCT02721017
- Testing
- Cryoanalgesia, Thoracic epidural (ropivicaine, fentanyl)
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of California, San Francisco
Haemophilia A (Moderate or Severe), Hemophilia, Classic
A Study to Investigate the Course of Synovial Hypertrophy in Patients With Haemophilia A on Efanesoctocog Alfa Prophylaxis
The rationale for conducting this open-label phase 4 study is to assess whether once-weekly prophylaxis with efanesoctocog alfa (50 IU/kg) improves the disease course of existing synovial hypertrophy and prevents the risk of…
- Conditions
- Haemophilia A (Moderate or Severe), Hemophilia, Classic, Haemophilia, Hemophilia
- Trial name
- NCT06752850
- Testing
- Efanesoctocog alfa
- Where
- 10 sites in Italy, Norway and 2 more
- Volunteers
- 37 people
- Sponsor
- Swedish Orphan Biovitrum
Fabry Disease, Chronic Kidney Disease, Stage IV (Severe)
Severe Renal Disease Study in Fabry Patients Treated With Fabrazyme
This study was designed to determine appropriate treatment with Fabrazyme at a biweekly dose of either 1 mg/kg or 3 mg/kg in a population of patients with severe renal disease burden.
- Trial name
- NCT00837824
- Testing
- Fabrazyme (agalsidase beta)
- Where
- 9 sites in United States
- Volunteers
- 20 people
- Sponsor
- Genzyme, a Sanofi Company
TSC, Tuberous Sclerosis Complex
Long-term, Prospective Study Evaluating Clinical and Molecular Biomarkers of Epileptogenesis in a Genetic Model of Epilepsy - Tuberous Sclerosis Complex
The primary objective of clinical part of EPISTOP project is to identify the clinical and molecular biomarkers of epileptogenesis in a prospective clinical study of patients with TSC.
- Conditions
- TSC, Tuberous Sclerosis Complex, Epilepsy
- Trial name
- EPISTOP (NCT02098759)
- Testing
- epilepsy early diagnosis protocol
- Where
- 9 sites in Austria, Belgium and 6 more
- Volunteers
- 100 people
- Sponsor
- Sergiusz Jozwiak
Wiskott-Aldrich Syndrome
Gene Therapy for WAS
This is a phase I/II study to evaluate the safety and efficacy of Hematopoietic Stem Cell genetherapy for the Wiskott-Aldrich Syndrome.
- Trial name
- NCT01347346
- Testing
- Autologous CD34 positive cells transduced with a lentiviral vector containing human WAS gene
- Where
- France
- Volunteers
- 5 people
- Sponsor
- Genethon
Jaundice Neonatal
The Risk of Hyperbilirubinemia in Term Newborns After Placental Transfusion
Delayed cord clamping (DCC) has been a subject of extensive research for the last couple of years. Based on published data, numerous neonatal benefits have been suggested such as increased hemoglobin and ferritin levels both at…
- Trial name
- NCT02625688
- Testing
- Delayed cord clamping, Cord milking, Early cord clamping
- Where
- Poland
- Volunteers
- 400 people
- Sponsor
- Princess Anna Mazowiecka Hospital, Warsaw, Poland
Sickle Cell Disease
Medication Adherence in Youth With Sickle Cell Disease (SCD)
Youth diagnosed with sickle cell disease (SCD) may have difficulty taking medication as prescribed (adherence). Hydroxyurea (HU) is one medication that youth may take to help manage SCD.
- Trial name
- NCT02143076
- Testing
- Demographic Questionnaire, Medical Adherence Measure Questionnaire, Acceptability Questionnaire
- Where
- United States
- Volunteers
- 36 people
- Sponsor
- St. Jude Children's Research Hospital
Hypophosphatasia
Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP)
This clinical trial is being conducted in Hypophosphatasia, a bone disorder caused by gene mutation(s) resulting in bone defects. These gene mutations cause low levels of an enzyme needed to harden bone.
- Trial name
- NCT02496689
- Testing
- asfotase alfa
- Where
- 5 sites in United States, France
- Sponsor
- Alexion Pharmaceuticals, Inc.
Congenital Disorders
Comparison of NIRS and Serum Lactate to Predict Poor Post-operative Outcomes
Mortality after neonatal cardiac repair remains significant, and neonates who have undergone operative repair of congenital heart disease may experience sudden and unexpected demise.
- Trial name
- NCT00485524
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Children's Healthcare of Atlanta
Prader-Willi Syndrome
Study of Tesomet With Open-label Extension in Subjects With Prader-Willi Syndrome
This study will evaluate the safety and efficacy of Tesomet (tesofensine + metoprolol) in subjects with PWS.
- Trial name
- PWS (NCT05198362)
- Testing
- Tesomet
- Where
- United States
- Sponsor
- Saniona
Urea Cycle Disorder
Observational Study That Will Collect Information on Patients With Urea Cycle Disorders (UCDs)
THRIVE is an observational study that will collect information on patients with UCDs. THRIVE will follow enrolled participants for up to 10 years.
- Trial name
- THRIVE (NCT01948427)
- Where
- United States
- Volunteers
- 203 people
- Sponsor
- Amgen
Atopic Dermatitis
Effects of Lactobacillus Reuteri Plus Vitamin D3 in Children With Atopic Dermatitis
The purpose of this study is to evaluate in a randomized, double-blinded, controlled trial, whether a new food supplement containing Lactobacillus reuteri DSM 17938 and vitamin D3 (Reuterin® D3) may improve the SCORAD in…
- Trial name
- NCT02945683
- Testing
- Reuterin D3
- Where
- Italy
- Volunteers
- 88 people, healthy volunteers welcome
- Sponsor
- Noos S.r.l.
Fanconi Anemia
FANCA Gene Transfer for Fanconi Anemia Using a High-safety, High-efficiency, Self-inactivating Lentiviral Vector
This is a Phase I/II clinical trial of gene therapy for treating Fanconi anemia using a self-inactivating lentiviral vector to functionally correct the defective gene.
- Trial name
- NCT03351868
- Testing
- Gene-modified autologous stem cells
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Thalassemia
Endocrine and Nutritional Assessment in B Thalassemia Major
B Thalassemia patients developed short stature and low weight in spite no evident endocrine abnormalities. One hypothesis is that they developed some degree of malnutrition,then the purpose of this study is to assess the…
- Trial name
- NCT00456690
- Testing
- Nutritional recommendations
- Where
- Israel
- Volunteers
- 133 people
- Sponsor
- HaEmek Medical Center, Israel
Hemophilia A, Prophylaxis of Bleeding
A Study to Learn More About the Safety of Damoctocog-alfa-pegol When Used in Routine Medical Care in Korean Participants With Hemophilia A
In this study, researchers will observe and study the data from participants with hemophilia A who receive damoctocog alfa pegol as prescribed by their doctors.
- Conditions
- Hemophilia A, Prophylaxis of Bleeding, Treatment of Bleeding
- Trial name
- NCT06222697
- Testing
- Damoctocog-alfa-pegol (Jivi, BAY94-9027)
- Where
- South Korea
- Volunteers
- 20 people
- Sponsor
- Bayer
Dilated Cardiomyopathy, Single-center Study
Cardiac Magnetic Resonance for Risk Stratification in Dilated Cardiomyopathy
Dilated cardiomyopathy (DCM) is an increasingly recognized cause of morbidity and mortality with heterogenous etiologies (eg, genetic, environment) and clinical manifestations, characterized by left ventricular (LV) systolic…
- Trial name
- NCT04990297
- Where
- China
- Volunteers
- 2,500 people
- Sponsor
- Chinese Academy of Medical Sciences, Fuwai Hospital
Centronuclear Myopathy
Early Phase Human Drug Trial to Investigate Dynamin 101 (DYN101) in Patients ≥ 16 Years With Centronuclear Myopathies
There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety, tolerability, pharmacokinetics (PK) and pharmacodynamics (PD)/preliminary efficacy of…
- Trial name
- Unite-CNM (NCT04033159)
- Testing
- DYN101
- Where
- 8 sites in Belgium, Denmark and 4 more
- Volunteers
- 14 people
- Sponsor
- Dynacure
Cranioplasty, Craniofacial Abnormalities
Stryker PEEK Customized Implant: A Prospective Post Market Follow Up to Evaluate Safety, Performance and Effectiveness
The purpose of this study is to confirm the safety, performance and effectiveness of Stryker's PEEK Customized Implants when used for the augmentation and/or restoration of bony and/or soft tissue deformities in the cranial and…
- Conditions
- Cranioplasty, Craniofacial Abnormalities, Craniofacial Injuries
- Trial name
- NCT05362370
- Testing
- Stryker's PEEK Customized Implant
- Where
- 13 sites in United States, Austria and 4 more
- Volunteers
- 99 people
- Sponsor
- Stryker Craniomaxillofacial
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