Clinical trials: Congenital Diseases
Maxillofacial Abnormalities
Does Subspinal Le Fort I Osteotomy Affect the Nasal Airway Volume
After the description of Le Fort fractures, maxillary osteotomies are used to correct dentofacial deformities. The profile changes on nasolabial region resulting from a Le Fort I osteotomy, also that affects nasal airway.
- Trial name
- NCT06281197
- Testing
- Conventional, Subspinal
- Where
- Turkey (Türkiye)
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- TC Erciyes University
Epidermolysis Bullosa Simplex Dowling Meara
Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara
Introduction: Epidermolysis Bullosa Simplex-Dowling-Meara (DM-EBS) is a rare genodermatosis characterized by spontaneous or post traumatic large cutaneous blisters. No curative treatment is actually available.
- Trial name
- NCT01556308
- Testing
- Taking of liquid and top of blisters
- Where
- France
- Volunteers
- 6 people
- Sponsor
- Centre Hospitalier Universitaire de Nice
Sotos Syndrome, Beckwith-Wiedemann Syndrome
Body Perception and Representation in Overgrowth Syndromes, Behavioral Assessment and Neuropsychological Development
Sotos Syndrome (SS) and Beckwith-Wiedemann Syndrome (BWS) are known as overgrowth syndromes as they involve an excessive growth of the whole body or of specific body parts.
- Conditions
- Sotos Syndrome, Beckwith-Wiedemann Syndrome, Overgrowth Syndrome, Body Image
- Trial name
- Body-PROBAND (NCT04993235)
- Testing
- NEPSY-II, CBCL and AQ questionnaires, BUT questionnaire and experimental tasks
- Where
- Italy
- Volunteers
- 92 people, healthy volunteers welcome
- Sponsor
- IRCCS Eugenio Medea
Cancer Survivor, Chronic Myeloproliferative Disorders
Presence of Donor-Derived DNA in Semen Samples From Cancer Survivors Who Underwent Donor Stem Cell Transplant
RATIONALE: Studying samples of semen from cancer survivors in the laboratory may help doctors learn more about changes that occur in DNA and identify biomarkers related to cancer.
- Conditions
- Cancer Survivor, Chronic Myeloproliferative Disorders, Leukemia, Lymphoma
- Trial name
- NCT01077440
- Testing
- DNA analysis, polymerase chain reaction, flow cytometry
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Vanderbilt University
Congenital Adrenal Hyperplasia, Healthy
Catecholamine Reserve and Exercise Tolerance in Healthy Volunteers and Patients With Congenital Adrenal Hyperplasia
This study will examine and compare the effects of intense exercise on the release of catecholamines in patients with congenital adrenal hyperplasia (CAH) and in healthy persons.
- Trial name
- NCT00011791
- Where
- United States
- Volunteers
- 61 people
- Sponsor
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Amputation, Congenital, Upper Limb; Amelia
CNS Changes Following Upper Limb Loss
The objective of this study is to better understand the structural and functional changes that the central nervous system (CNS) undergoes following congenital upper limb loss.
- Trial name
- NCT06043518
- Testing
- MRI
- Where
- Switzerland
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- University of Zurich
Physical Disability
A Community Wellness Program for Adults Living With Long-term Physical Disability
For people living with long-term physical disabilities, such as spinal cord injury or multiple sclerosis, middle-age (45-64) is a period of great vulnerability for losses in function and participation.
- Trial name
- EW-D (NCT03653390)
- Testing
- EnhanceWellness for Disability (EW-D), Wellness Education
- Where
- United States
- Volunteers
- 516 people
- Sponsor
- University of Washington
Hypercholesterolemia, Hyperbilirubinemia
Study of Efficacy and Safety of the Plasmapheresis Method With Albumin Compensation Compared With the Plasmapheresis Method Without Albumin Compensation for Aging Biomarkers Correction in Men and Women Aged 40 to 55 Years Old
Reaching active aging makes it important to implement new methods affecting the biological age of a person. Biochemical parameters of a blood test are aging biomarkers that are ones of the most accessible for testing.
- Conditions
- Hypercholesterolemia, Hyperbilirubinemia, Hyper IgE Syndrome, Hyper Beta Lipoproteinemia
- Trial name
- NCT04897113
- Testing
- plasma exchange with albumin, plasma exchange without albumin
- Where
- 2 sites in Russia
- Volunteers
- 80 people, healthy volunteers welcome
- Sponsor
- National Medical Research Center for Rehabilitation and Balneology
Inflammatory Myopathy, Duchenne Muscular Dystrophy
Quantitative Muscle Ultrasound as a Marker of Progression in Children With Muscular Diseases
The aim of our study is to Assess skeletal muscle structural status in children with inflammatory myositis and Duchenne muscular dystrophy using musculoskeletal ultrasound and to perform a longitudinal follow up of these changes…
- Trial name
- NCT03786913
- Testing
- Quantitative muscle ultrasound measurements
- Where
- Egypt
- Volunteers
- 48 people
- Sponsor
- Benha University
Joint Bleed, Hemophilia A
Handheld Ultrasound (HHUS) for Home Use in Hemophilia
This is a study in 3 phases that will assess the feasibility and utility of handheld home ultrasound (HHUS) in a patient's home to assess whether a painful episode in the elbow, knee or ankle is a bleed or not.
- Trial name
- HHUS (NCT04131920)
- Testing
- handheld ultrasound: Philips Lumify integrated tele-ultrasound powered by Reacts collaborative platform
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Washington Institute for Coagulation
Congenital Heart Disease
Prenatal Effects of Congenital Heart Disease (CHD) on Neurodevelopmental Outcome
The purpose of this study is to investigate the prenatal impact of abnormal cardiac structure on neurodevelopmental outcomes in children with congenital heart disease.
- Trial name
- NCT00713635
- Where
- United States
- Volunteers
- 51 people
- Sponsor
- Columbia University
Acute Myeloid Leukemia/Transient Myeloproliferative Disorder, Acute Undifferentiated Leukemia
Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic Malignancies
This clinical trial studies fludarabine phosphate and total-body radiation followed by donor peripheral blood stem cell transplant and immunosuppression in treating patients with hematologic malignancies.
- Conditions
- Acute Myeloid Leukemia/Transient Myeloproliferative Disorder, Acute Undifferentiated Leukemia, Adult Acute Lymphoblastic Leukemia in Remission, Adult Acute Myeloid Leukemia in Remission
- Trial name
- NCT00014235
- Testing
- fludarabine phosphate, total-body irradiation, peripheral blood stem cell transplantation
- Where
- 11 sites in United States, Germany and 1 more
- Volunteers
- 160 people
- Sponsor
- Fred Hutchinson Cancer Center
Migraine Disease, Patent Foramen Ovale
Migraine Headaches Elimination With Patent Foramen Ovale-Directed Therapy
Migraine is a common and often disabling condition, but its exact causes are not fully understood. Some people with migraines have a small opening in the heart wall called a patent foramen ovale (PFO).
- Trial name
- COMFORT-PFO (NCT07629635)
- Testing
- Prasugrel 5mg, Transcatheter Closure of Patent Foramen Ovale
- Where
- United States
- Volunteers
- 32 people
- Sponsor
- Columbia University
Hereditary Thyroid Gland Medullary Carcinoma, Locally Advanced Thyroid Gland Medullary Carcinoma
Sorafenib Tosylate in Treating Patients With Metastatic, Locally Advanced, or Recurrent Medullary Thyroid Cancer
This phase II trial studies how well sorafenib tosylate works in treating patients with medullary thyroid cancer that has spread to other parts of the body (metastatic), spread to the tissue surrounding the thyroid (locally…
- Conditions
- Hereditary Thyroid Gland Medullary Carcinoma, Locally Advanced Thyroid Gland Medullary Carcinoma, Multiple Endocrine Neoplasia Type 2A, Multiple Endocrine Neoplasia Type 2B
- Trial name
- NCT00390325
- Testing
- Sorafenib Tosylate
- Where
- 3 sites in United States
- Volunteers
- 21 people
- Sponsor
- National Cancer Institute (NCI)
Neurofibromatosis 1, Plexiform Neurofibroma (PN)
Efficacy and Safety of Selumetinib in Adults With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas
A global study to demonstrate the effectiveness of selumetinib in participants with NF1 who have symptomatic, inoperable plexiform neurofibromas.
- Trial name
- KOMET (NCT04924608)
- Testing
- Selumetinib
- Where
- 34 sites in United States, Australia and 11 more
- Volunteers
- 145 people
- Sponsor
- AstraZeneca
Alexander Disease
Zilganersen Expanded Access Program for Individuals With Alexander Disease
The purpose of the expanded access program (EAP) is to provide access to zilganersen for eligible individuals with Alexander disease (AxD).
- Trial name
- NCT07487389
- Testing
- zilganersen
- Sponsor
- Ionis Pharmaceuticals, Inc.
Atopic Dermatitis
Study of 0417 Ointment in the Treatment of Atopic Dermatitis
The aim of this trial is to assess the efficacy of 0417 Ointment in the Treatment of Atopic Dermatitis. Treatment medication will be administered as follows: Apply a thin layer of ointment to affected skin areas twice daily and…
- Trial name
- NCT01139450
- Testing
- 0417, Vehicle of 0417 test product, Tacrolimus Ointment 0.03%
- Where
- United States
- Volunteers
- 899 people
- Sponsor
- Fougera Pharmaceuticals Inc.
Thalassemia
Assessment of Cognitive Function and Quality of Life in Thalassemic Children at Sohag University Hospital
Thalassemia syndromes are a heterogeneous group of single gene disorders, inherited in an autosomal recessive manner ,prevalent among all ethnic groups and in almost every country around the world .
- Trial name
- NCT06058260
- Testing
- Pediatric Quality of Life Inventory (questionnaire) and The Stanford-Binet Intelligence Scale fifth edition
- Where
- Egypt
- Volunteers
- 100 people
- Sponsor
- Sohag University
Pruritus, Atopic Dermatitis
Phase IIa Safety and Efficacy Study of SRD174 Cream in Patients With AD-associated Pruritus
Pruritus is an essential feature for the diagnosis of atopic dermatitis and may play an important part in disease progression. Itching has a significant impact on the quality of life of AD sufferers, in particular night-time…
- Trial name
- NCT00838708
- Testing
- SRD174 Cream, vehicle cream
- Where
- 13 sites in United States
- Volunteers
- 62 people
- Sponsor
- Serentis Ltd.
Prader-Willi Syndrome
Nordic Study on the Effects of Growth Hormone (Norditropin SimpleXx) Treatment in Adults With Prader-Willi Syndrome
The aim of this study is to study the effects of GH on body composition, lipid and glucose metabolism, physical performance and safety aspects in adults with PWS.The patients are randomized to either GH or placebo the first year…
- Trial name
- NCT00372125
- Testing
- Norditropin SimpleXx
- Where
- 3 sites in Denmark, Norway and 1 more
- Volunteers
- 46 people
- Sponsor
- Karolinska University Hospital
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