Clinical trials: Congenital Diseases
Irritable Bowel Disease
(FODMAP) Diet on Improving Symptoms of Patients With Irritable Bowel Syndrome
Irritable bowel syndrome (IBS) is a common disorder of gut-brain interaction, characterized by chronic abdominal pain and altered bowel habits.
- Trial name
- NCT07299305
- Testing
- Low Fermentable, Oligo-, Di-, Monosaccharides and Polyols (FODMAP) Diet
- Where
- Egypt
- Volunteers
- 183 people
- Sponsor
- Zagazig University
Leukemia, Myelodysplastic Syndromes
Helical Tomotherapy, Fludarabine Phosphate, and Melphalan Followed By Allo-HSCT in Hematological Malignancies
RATIONALE: Giving chemotherapy drugs, such as fludarabine phosphate and melphalan, and HT before a donor stem cell transplant helps stop the growth of cancer cells.
- Trial name
- NCT00544466
- Testing
- fludarabine phosphate, melphalan, allogeneic hematopoietic stem cell transplantation
- Where
- United States
- Volunteers
- 75 people
- Sponsor
- City of Hope Medical Center
Leber's Hereditary Optic Neuropathy (LHON)
Post Authorisation Safety Study With Raxone in LHON Patients
This study is a multicentre, prospective, non-interventional post-authorisation safety study (PASS) of the clinical outcomes for patients with LHON treated with Raxone®. No medication will be provided as part of this study.
- Trial name
- PAROS (NCT02771379)
- Testing
- Idebenone
- Where
- 26 sites in Austria, France and 4 more
- Volunteers
- 229 people
- Sponsor
- Santhera Pharmaceuticals
Infantile Colic
Study to Evaluate the Efficacy of a Probiotic in Infantile Colic Symptoms Relief
This study evaluates the efficacy of single strain probiotic administered in a form of a sachet in the treatment of infant colic in infants 3-12 weeks old.
- Trial name
- PIXAR (NCT05432479)
- Testing
- Probiotic
- Where
- 2 sites in United States, India
- Volunteers
- 101 people
- Sponsor
- The Archer-Daniels-Midland Company
Sickle Cell Disease
Liver Fibrosis in Sickle Cell Disease
Patients with sickle cell disease many have a number of systemic complications, including liver problems. Some of these liver problems lead to liver fibrosis/cirrhosis, secondary to chronic blood transfusions.
- Trial name
- NCT02007746
- Testing
- Liver transient elastography (Fibroscan), Ferriscan, Liver biopsy in iron overloaded subjects.
- Where
- United States
- Volunteers
- 26 people
- Sponsor
- University of Miami
Sickle Cell Disease
Imatinib for Pain in Sickle Cell Anemia
In this protocol, the investigators propose to evaluate the biochemical effects of imatinib on sickle red blood cells (RBCs). Patients will be administered imatinib mesylate orally following the guidelines previously established…
- Trial name
- IMPACT (NCT03997903)
- Testing
- Imatinib Mesylate
- Where
- 2 sites in United States
- Volunteers
- 7 people, healthy volunteers welcome
- Sponsor
- Indiana University
Mandibular Hypoplasia
Comparing Stability and Cost-Effectiveness of 3 Bicortical Screws Vs Adjustable Plate and 2 Bicortical Screws in Fixation of BSSRO
In this current study a comparison between 3 positional screws versus the adjustable plating system in conjunction with 2 positional screws. The patients will be selected to have retrognathic mandible requiring advancement.
- Trial name
- NCT02950727
- Testing
- 3 bicortical screws, adjustable plate and 2 bicortical screws
- Volunteers
- 12 people, healthy volunteers welcome
- Sponsor
- Joseph Van Sickels
Mucopolysaccharidosis I, Lysosomal Storage Diseases
Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I
The investigators are studying the use of enzyme replacement therapy into the spinal fluid for treatment of spinal cord compression in the Hurler-Scheie and Scheie forms of mucopolysaccharidosis I (MPS I).
- Conditions
- Mucopolysaccharidosis I, Lysosomal Storage Diseases, Spinal Cord Compression
- Trial name
- NCT00215527
- Testing
- laronidase
- Where
- 2 sites in United States, Finland
- Volunteers
- 4 people
- Sponsor
- Patricia I. Dickson, M.D.
Retinopathy of Prematurity
REDEXAM - Reducing Painful Eye Examinations in Preterm Infants
More than 8000 babies born >8 weeks early or weighing less than 1500g at birth in the United Kingdom annually are at risk of a serious eye problem - retinopathy of prematurity (ROP).
- Trial name
- REDEXAM (NCT01861470)
- Where
- United Kingdom
- Volunteers
- 500 people
- Sponsor
- Newcastle-upon-Tyne Hospitals NHS Trust
Gout, Hyperuricemia
Safety and Efficacy Study of Intravenous Uricase-PEG 20
The purpose of this study is to assess the safety, pharmacokinetics and pharmacodynamics of single intravenous doses of Uricase-PEG 20.
- Trial name
- NCT01021241
- Testing
- Uricase-PEG 20
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- EnzymeRx
Wilson Disease
Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease
The study will evaluate the efficacy and safety of ALXN1840 (formerly called WTX101) administered for 48 weeks compared to standard of care (SoC) in Wilson Disease (WD) participants aged 12 and older in the Primary Evaluation…
- Trial name
- NCT03403205
- Testing
- ALXN1840, SoC Therapy
- Where
- 56 sites in United States, Australia and 20 more
- Volunteers
- 214 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Trisomy 21
Non-invasive Screening of Fetal Trisomy 21 by Digital PCR
In France, as in many countries of the world, trisomy 21 or Down syndrome (DS) is the subject of an antenatal screening based on a risk calculation (R) including the assay of biochemical markers in the maternal blood, and the…
- Trial name
- dPNI-T21 (NCT03687866)
- Testing
- non invasive prenatal testing
- Where
- France
- Volunteers
- 776 people, healthy volunteers welcome
- Sponsor
- University Hospital, Caen
Ehlers-Danlos Syndrome
Evaluation of a Cohort of Patients With Ehlers-Danlos Syndrome Treated With Orthopedic Surgery (SED-eval)
The aim of this study is to assess the joint involvement (shoulder - ankle - knee - elbow - wrist) in patients with Ehlers-Danlos Syndrome and treated by surgery.
- Trial name
- SED-eval (NCT05137379)
- Testing
- A joint functional score based on the affected joint
- Where
- 2 sites in France
- Volunteers
- 200 people
- Sponsor
- GCS Ramsay Santé pour l'Enseignement et la Recherche
Atopic Dermatitis
Bioequivalence of Two Tacrolimus 0.1% Topical Ointment Formulations in Patients With Atopic Dermatitis
The primary objectives are to establish the therapeutic equivalence of tacrolimus ointment 0.1%, manufactured by Taro Pharmaceuticals Inc.
- Trial name
- NCT00833079
- Testing
- Tacrolimus 0.1% manufactured by Taro, Protopic - Tacrolimus 0.1%, Tacrolimus Vehicle manufactured by Taro
- Volunteers
- 500 people
- Sponsor
- Sun Pharmaceutical Industries, Inc.
Cystic Fibrosis
The Relationship Between CFTR Gene Mutations and Exercise Capacity
This study will explore the effect of mutation severity on exercise capacity. Through a better understanding of the association between mutation severity and exercise capacity, clinicians will be more able to predict a given…
- Trial name
- NCT05157646
- Testing
- Fitness tracker
- Where
- United States
- Sponsor
- Virginia Commonwealth University
Cerebrotendinous Xanthomatosis
Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis
OBJECTIVES: I. Assess the biosynthesis of cholesterol and cholestanol, and measure the turnover of individual sterols and bile acids in patients with cerebrotendinous xanthomatosis before and after a cholesterol- and…
- Trial name
- NCT00004346
- Testing
- chenodeoxycholic acid, lovastatin
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- National Center for Research Resources (NCRR)
Dermatitis, Atopic
Treatment of Atopic Dermatitis by a Full-Body Blue Light Device
Multicentric, placebo-controlled, double-blinded, three-armed, prospective, randomized controlled trial.150 patients diagnosed with atopic dermatitis will be randomized to arm 1 (irradiation for 30min at 415nm wavelength), arm 2…
- Trial name
- AD-Blue (NCT03085303)
- Testing
- Full Body Blue Light Device
- Where
- 3 sites in Germany, Switzerland
- Volunteers
- 87 people
- Sponsor
- Philips Electronics Nederland BV
Premature Infant Disease, Retinopathy of Prematurity
Pain of Premature Babies and RetCam (DOLICAM)
It is a single-center prospective observational descriptive study. studied population is premature infants, hospitalized in the neonatology department of the University Hospital of Grenoble and for whom the RetCam examination is…
- Trial name
- DOLICAM (NCT04092127)
- Testing
- Video Record
- Where
- France
- Volunteers
- 31 people
- Sponsor
- University Hospital, Grenoble
Cystic Fibrosis
Effect of Simvastatin on CF Airway Inflammation
Individuals with cystic fibrosis (CF) have persistent infection in the airways, which the body attempts to fight by recruiting immune cells (neutrophils) to the lung.
- Trial name
- NCT00255242
- Testing
- Simvastatin treatment for 28 days
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Akron Children's Hospital
Osteogenesis Imperfecta
An Exploratory Study of BPS804 Treatment in Adult Patients With Type I, III or IV Osteogenesis Imperfecta
The purpose of this study is to investigate the effect of BPS804 on strength/quality of bone in patients with Type I, III or IV Osteogenesis imperfecta using a special type of CT scanner. Participants will be treated for 1 year.
- Trial name
- Meteoroid (NCT03216486)
- Testing
- BPS804
- Where
- 2 sites in United States
- Sponsor
- Ultragenyx Pharmaceutical Inc
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