Clinical trials: Genetic Diseases, Inborn
Myelofibrosis, Gaucher Disease
Clinical and Pathophysiological Investigations Into Erdheim Chester Disease
Background: Erdheim Chester Disease (ECD) is a very rare disease in which abnormal white blood cells start growing and affect the bones, kidneys, skin, and brain.
- Conditions
- Myelofibrosis, Gaucher Disease, Pulmonary Fibrosis, Hermansky-Pudlak Syndrome (HPS)
- Trial name
- NCT01417520
- Where
- United States
- Volunteers
- 88 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Cystic Fibrosis
Short-term Effects of Physiotherapy on LCI
Although some studies have brought some evidences about the efficacy of positive expiratory pressure (PEP)-mask therapy as an airway clearance technique, yet it is not clearly understood what is the contribution of this technique…
- Trial name
- SPICy (NCT03760120)
- Testing
- PEP-MASK
- Where
- 2 sites in Italy
- Volunteers
- 19 people
- Sponsor
- Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Primary Immune Deficiency
Safety Study of Subcutaneous Ig NextGen 16% in Patients With Primary Immunodeficiency
The study aims to assess the safety and tolerability of subcutaneous Ig NextGen 16% in patients with Primary Immune Deficiency who require Immunoglobulin (Ig) G replacement therapy.
- Trial name
- NCT00680446
- Testing
- Immunoglobulin G (Ig NextGen 16%)
- Where
- 9 sites in Australia, New Zealand
- Volunteers
- 41 people
- Sponsor
- CSL Limited
MELAS Syndrome
Nitric Oxide Production in MELAS Syndrome
Introduction Baylor College of Medicine and Texas Children's Hospital are recruiting individuals with MELAS syndrome for a clinical study.
- Trial name
- NCT01339494
- Testing
- Arginine and citrulline supplementations
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Baylor College of Medicine
Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn
Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU
XPhePiccosMR is a prospective, single-arm, open label, observational study that aims to evaluate the acceptability and tolerability of XPhe Piccos, a slow-release, phenylalanine-free protein substitute in the form of tiny…
- Conditions
- Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn, Brain Disorder, Metabolic, Brain Diseases
- Trial name
- XPhePiccosMR (NCT07802366)
- Testing
- Slow release, phenylalanine-free protein substitute tablets
- Where
- United Kingdom
- Volunteers
- 10 people
- Sponsor
- metaX Institut fuer Diatetik GmbH
Netherton Syndrome
Open Label, Safety and Efficacy Study of QRX003 Lotion in Subjects With Netherton Syndrome
To assess the safety, tolerability, and efficacy of QRX003 lotion (4%) when added to standard of care treatment regimen, including systemic therapy in subjects with Netherton syndrome
- Trial name
- NCT05789056
- Testing
- QRX003, 4% Lotion
- Where
- 4 sites in United States
- Volunteers
- 20 people
- Sponsor
- Quoin Pharmaceuticals
Hemophilia A
China ADVATE PTP Study
The purpose of this study is to assess efficacy, safety and pharmacokinetics of ADVATE in the treatment and prevention of bleeding episodes (BEs)
- Trial name
- NCT02170402
- Testing
- Octocog alfa (recombinant human coagulation factor VIII)
- Where
- 11 sites in China
- Volunteers
- 82 people
- Sponsor
- Baxalta now part of Shire
Hemophilia, Hemophilia A
Viscoelastic Properties of Lower Extremity Muscles in Patients With Hemophilia
The aim of our study is to evaluate the viscoelastic properties of lower extremity muscles in patients with hemophilia A and hemophilia B secondarily to compare them with their healthy peers.
- Conditions
- Hemophilia, Hemophilia A, Hemophilia B
- Trial name
- NCT05981313
- Where
- Turkey (Türkiye)
- Volunteers
- 40 people, healthy volunteers welcome
- Sponsor
- Hasan Kalyoncu University
Sickle Cell Disease
Haploidentical Bone Marrow Transplantation in Sickle Cell Patients (BMTCTN1507)
This is a Phase II, single arm, multi-center trial, designed to estimate the efficacy and toxicity of haploidentical bone marrow transplantation (BMT) in patients with sickle cell disease (SCD).
- Trial name
- NCT03263559
- Testing
- Haploidentical Bone Marrow Transplantation, Hydroxyurea, Rabbit-ATG
- Where
- 32 sites in United States
- Volunteers
- 95 people
- Sponsor
- Medical College of Wisconsin
Cystinosis
Cystadrops in Pediatric Cystinosis Patients From Six Months to Less Than Two Years Old (SCOB2)
Cystadrops® is currently indicated in adults and children from 2 years of age diagnosed with cystinosis with corneal crystal accumulation observed.
- Trial name
- SCOB2 (NCT04125927)
- Testing
- Mercaptamine
- Where
- 6 sites in Belgium, France and 3 more
- Volunteers
- 5 people
- Sponsor
- RECORDATI GROUP
Angelman Syndrome
A Study in Adults and Adolescents With Angelman Syndrome (STARS)
The purpose of the study is to assess the safety and tolerability of oral OV101 (gaboxadol) in adult and adolescent subjects with Angelman syndrome. In addition, several exploratory efficacy outcome measures will be investigated.
- Trial name
- NCT02996305
- Testing
- OV101 Regimen 1, OV101 regimen 2
- Where
- 13 sites in United States, Israel
- Volunteers
- 88 people
- Sponsor
- Healx AI
Sickle Cell Disease, Chronic Pain
Use of a Mobile-based App for SCD Patients
The study will seek to enroll 100 sickle cell or thalassemia patients who are age 12 or older who have access to a smartphone or tablet with Internet access daily.
- Trial name
- SMART (NCT01833702)
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Duke University
Dermatitis, Atopic
Comparison Study Between Protopic (Tacrolimus Ointment) and Elidel (Pimecrolimus Cream) in Treating Pediatric Patients With Atopic Dermatitis
Comparison of Protopic Ointment to Elidel Cream to assess the safety and efficacy in pediatric patients with Atopic Dermatitis
- Trial name
- NCT00666159
- Testing
- tacrolimus ointment, pimecrolimus cream
- Where
- 12 sites in United States
- Volunteers
- 226 people
- Sponsor
- Astellas Pharma Inc
Hepatolenticular Degeneration; Wilson
Performance and Safety of MEX-CD1 Low-volume Continuous Veno-venous Haemodialysis Medical Device for Copper-extraction in Patients With Wilson's Disease
The goal of this clinical trial is to test the MEX-CD1 hemodialysis medical device in patients suffering from Wilson's Disease. The main questions it aims to answer are: Does the device work as expected by removing the excess of…
- Trial name
- MEXWILS (NCT05917327)
- Testing
- Low-volume continuous veno-venous haemodialysis
- Where
- 4 sites in France, Spain
- Volunteers
- 1 people
- Sponsor
- Mexbrain
Sickle Cell Disease
Patient Characteristics and Treatment Patterns From Early Crizanlizumab Use in Real-world Setting: Preliminary Analysis From Select Sickle Cell Centers
This was a retrospective cohort study using secondary data from member sites of the National Alliance of Sickle Cell Centers (NASCC) with at least five patients who initiated crizanlizumab.
- Trial name
- NCT05833022
- Where
- 11 sites in United States
- Volunteers
- 297 people
- Sponsor
- Novartis Pharmaceuticals
Accelerated Phase Chronic Myelogenous Leukemia, Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome
Fludarabine Phosphate, Melphalan, Total-Body Irradiation, Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer or Bone Marrow Failure Disorders
This clinical trial is studying how well giving fludarabine phosphate and melphalan together with total-body irradiation followed by donor stem cell transplant works in treating patients with hematologic cancer or bone marrow…
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, Acute Myeloid Leukemia With Multilineage Dysplasia Following Myelodysplastic Syndrome, Adult Acute Lymphoblastic Leukemia in Remission, Adult Acute Myeloid Leukemia in Remission
- Trial name
- NCT00856388
- Testing
- fludarabine phosphate, melphalan, total-body irradiation
- Where
- United States
- Volunteers
- 62 people
- Sponsor
- Roswell Park Cancer Institute
Cystic Fibrosis
Behavioral Treatment of Weight Gain in CF
The current study examines the efficacy of two treatments to help children with cystic fibrosis (CF) meet their dietary calorie requirements of 120% to 150% of the recommended daily allowance of energy and the effect of these…
- Trial name
- NCT00006169
- Testing
- Behavioral Treatment
- Where
- 2 sites in United States
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Angelman Syndrome
Angelman Syndrome Natural History Study-FAST UK
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults.
- Trial name
- NCT05100810
- Testing
- Natural History Study
- Where
- United Kingdom
- Volunteers
- 40 people
- Sponsor
- University of Oxford
Duchenne Muscular Dystrophy, Duchenne Disease
Vasodilator and Exercise Study for DMD (VASO-REx)
Examining two strategies as potential adjuvant therapies for Duchenne muscular dystrophy (DMD); aerobic exercise training (to induce adaptations in skeletal muscle and improve cardiovascular health) and tadalafil, an FDA-approved…
- Conditions
- Duchenne Muscular Dystrophy, Duchenne Disease, Muscular Dystrophy, Muscular Dystrophy in Children
- Trial name
- NCT06290713
- Testing
- Tadalafil, Exercise Training
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of Florida
Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
Cardiac Magnetic Resonance in Children With Muscular Dystrophy
This protocol will exploit novel state of the art cardiovascular magnetic resonance techniques to examine important changes in the heart in children with muscular dystrophy.
- Conditions
- Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Limb Girdle Muscular Dystrophy
- Trial name
- NCT01081080
- Where
- 2 sites in United States
- Volunteers
- 20 people
- Sponsor
- Cooperative International Neuromuscular Research Group
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