Clinical trials: Multiple Congenital Anomaly
Smith-Lemli-Opitz Syndrome
Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome
The purpose of this study is to determine whether supplementation with an oil-based cholesterol suspension will correct the biochemical abnormalities in cholesterol and its precursors in individuals with the Smith-Lemli-Opitz…
- Trial name
- NCT00272844
- Testing
- crystalline cholesterol oil-based suspension
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Boston Children's Hospital
Basal Cell Nevus Syndrome, Gorlin's Syndrome
Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas
The purpose of this study is to evaluate and compare the safety and efficacy of intermittent vismodegib and of Photodynamic Therapy (PDT).
- Trial name
- Vismodegib (NCT01556009)
- Testing
- Vismodegib, Aminolevulinic acid %20 topical solution
- Where
- 3 sites in United States
- Volunteers
- 24 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Cystic Fibrosis
BI 443651 Multiple Rising Dose in Healthy Volunteers Followed by a Cross-over in CF Subjects
The objective of this study is to investigate the safety, tolerability, and pharmacokinetics of BI 443651 in male and female healthy volunteers and subjects with Cystic Fibrosis (CF).
- Trial name
- NCT02976519
- Testing
- BI 443651
- Where
- 5 sites in Germany, United Kingdom
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Boehringer Ingelheim
Adolescent Behavior, Intellectual Disability
Promotion of Physical Activity in Adolescents With Intellectual and Developmental Disabilities
The objective of this study is to compare the effect of two strategies to increase MVPA in adolescents with intellectual and developmental disabilities (IDD): a single level intervention delivered to the adolescent only, and a…
- Conditions
- Adolescent Behavior, Intellectual Disability, Down Syndrome, Physical Activity
- Trial name
- NCT03684512
- Testing
- Group Exercise Sessions, Individual Support Sessions, Facebook Group
- Where
- United States
- Volunteers
- 116 people
- Sponsor
- University of Kansas
Fabry Disease
A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease
People with Fabry Disease have an alteration in their genetic material (DNA) which causes a deficiency of the alpha-galactosidase A enzyme.
- Trial name
- NCT00081497
- Testing
- agalsidase beta
- Where
- 25 sites in United States, Canada and 4 more
- Volunteers
- 67 people
- Sponsor
- Genzyme, a Sanofi Company
Von Hippel-Lindau Syndrome
TKI 258 in Von Hippel-Lindau Syndrome (VHL)
The goal of this clinical research study is to learn if dovitinib can safely be given to patients who have VHL with a measurable hemangioblastoma (tumor of the central nervous system).
- Trial name
- NCT01266070
- Testing
- Dovitinib
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- M.D. Anderson Cancer Center
Accelerated Phase Chronic Myelogenous Leukemia, Adult Acute Lymphoblastic Leukemia in Remission
Plerixafor and Filgrastim For Mobilization of Donor Peripheral Blood Stem Cells Before A Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
RATIONALE: Giving chemotherapy and total-body irradiation (TBI) before a donor peripheral blood stem cell transplant helps stop the growth of cancer cells and helps stop the patient's immune system from rejecting the donor's stem…
- Conditions
- Accelerated Phase Chronic Myelogenous Leukemia, Adult Acute Lymphoblastic Leukemia in Remission, Adult Acute Myeloid Leukemia in Remission, Adult Acute Myeloid Leukemia With 11q23 (MLL) Abnormalities
- Trial name
- NCT01076270
- Testing
- plerixafor, filgrastim, peripheral blood stem cell transplantation
- Where
- United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- Fred Hutchinson Cancer Center
Desmoplastic/Nodular Medulloblastoma, Medulloblastoma
Combination Chemotherapy in Treating Younger Patients With Newly Diagnosed, Non-metastatic Desmoplastic Medulloblastoma
This phase II trial studies how well combination chemotherapy works in treating younger patients with newly diagnosed, non-metastatic desmoplastic medulloblastoma.
- Conditions
- Desmoplastic/Nodular Medulloblastoma, Medulloblastoma, Medulloblastoma With Extensive Nodularity, Nevoid Basal Cell Carcinoma Syndrome
- Trial name
- NCT02017964
- Testing
- Carboplatin, Cognitive Assessment, Cyclophosphamide
- Where
- 173 sites in United States, Australia and 2 more
- Volunteers
- 26 people
- Sponsor
- Children's Oncology Group
Brain and Central Nervous System Tumors, Chronic Myeloproliferative Disorders
Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain
RATIONALE: An Opioid Titration Order Sheet that allows healthcare providers to adjust the dose and schedule of pain medication may help improve pain treatment for patients with cancer.
- Conditions
- Brain and Central Nervous System Tumors, Chronic Myeloproliferative Disorders, Leukemia, Lymphoma
- Trial name
- NCT00666211
- Testing
- educational intervention, Titrated pain management, questionnaire administration
- Where
- 11 sites in United States
- Volunteers
- 98 people
- Sponsor
- Vanderbilt-Ingram Cancer Center
Atopic Dermatitis
A Multi-omics Disease Signature Trial in Adult Patients With Moderate to Severe AD
This clinical trial will investigate the effectiveness and safety of a new active ingredient (LEO 138559) in the treatment of moderate to severe atopic dermatitis (AD). It is given by subcutaneous injection.
- Trial name
- NCT05470114
- Testing
- LEO 138559, Dupixent®
- Where
- Austria
- Volunteers
- 13 people
- Sponsor
- LEO Pharma
Atopic Dermatitis
A Study of Intravenous MK-8226 in Participants With Moderate-to-Severe Atopic Dermatitis (MK-8226-003)
This is a 3-part study to assess the safety, tolerability, efficacy, pharmacokinetics (PK), pharmacodynamics (PD), and immunogenicity of MK-8226 in participants with moderate to severe atopic dermatitis.
- Trial name
- NCT01732510
- Testing
- MK-8226
- Volunteers
- 65 people
- Sponsor
- Merck Sharp & Dohme LLC
Exostoses, Multiple Hereditary
An Efficacy and Safety Study of Palovarotene for the Treatment of MO
This is a randomized, double-blind, placebo-controlled study comparing the safety and efficacy of 2 dosage regimens of palovarotene versus placebo in preventing disease progression in pediatric subjects with multiple…
- Trial name
- MO-Ped (NCT03442985)
- Testing
- Palovarotene 2.5 mg, Palovarotene 5.0 mg
- Where
- 31 sites in United States, Australia and 10 more
- Volunteers
- 193 people
- Sponsor
- Clementia Pharmaceuticals Inc.
Cystic Fibrosis
Early Signs of Efficacy Study With Riociguat in Adult Homozygous Delta F508 Cystic Fibrosis Patients
Assessment of the safety, tolerability and early signs of efficacy of three times a day orally administered BAY63-2521 in adult delta F508 homozygous Cystic Fibrosis patients not on treatment with Orkambi
- Trial name
- NCT02170025
- Testing
- Riociguat (Adempas, BAY63-2521)
- Where
- 10 sites in United States, Belgium and 5 more
- Volunteers
- 21 people
- Sponsor
- Bayer
Down Syndrome
Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down Syndrome
The purpose of this study is to test in adults with Down Syndrome the safety, tolerability and immunogenicity of a vaccine, ACI-24.
- Trial name
- 3-Star (NCT02738450)
- Testing
- ACI-24 low dose, ACI-24 high dose
- Where
- 4 sites in United States
- Volunteers
- 20 people
- Sponsor
- AC Immune SA
Tumor, Tumor, Solid
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
- Conditions
- Tumor, Tumor, Solid, Metastasis, Metastatic Cancer
- Trial name
- NCT05103358
- Testing
- nab-sirolimus
- Where
- 166 sites in United States, Puerto Rico and 1 more
- Volunteers
- 128 people
- Sponsor
- Aadi Bioscience, Inc.
Prader-Willi Syndrome
Growth Hormone Use in Adults With Prader-Willi Syndrome
The main research question this protocol aims to answer is whether treatment with growth hormone will impact body composition, quality of life, and energy balance in PWS adults, and if there is a loss of effects after cessation…
- Trial name
- NCT00444964
- Testing
- Nutropin AQ
- Where
- United States
- Volunteers
- 11 people
- Sponsor
- Children's Mercy Hospital Kansas City
Prader-Willi Syndrome
Effects of Exenatide on Overweight Adolescents With Prader-Willi Syndrome
Prader-Willi Syndrome (PWS) is one of the most common genetic causes of obesity. Obesity is a major source of morbidity and mortality in this population.
- Trial name
- NCT01444898
- Testing
- Exenatide
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Children's Hospital Los Angeles
Tourette Disorder, Tourette Syndrome
Guanfacine in Children With Tic Disorders
The goal of this pilot study is to obtain preliminary information on the tolerability and efficacy of extended release guanfacine (trade name Intuniv) in children with Tourette Disorder (TD, also called Tourette syndrome).
- Trial name
- NCT01547000
- Testing
- extended-release guanfacine (Intuniv)
- Where
- 3 sites in United States
- Volunteers
- 34 people
- Sponsor
- Yale University
Facial Angiofibroma, Tuberous Sclerosis
Dose-Ranging Efficacy and Safety Study of Topical Rapamycin Cream for Facial Angiofibroma Associated With Tuberous Sclerosis Complex
The study aims to compare the safety and efficacy of two different strengths of Rapamycin cream, topical and placebo over 26 weeks in the treatment of facial angiofibroma (FA) associated with Tuberous Sclerosis Complex (TSC).
- Trial name
- NCT03826628
- Testing
- rapamycin
- Where
- 17 sites in United States, Australia and 7 more
- Volunteers
- 107 people
- Sponsor
- Dermatology Specialties Limited Partnership
Phenylketonuria
Response to Kuvan® in Subjects With Phenylketonuria (PKU) in a 4 Weeks Testing Period
The primary objective of the study is to evaluate the proportion of responders (that is, greater than or equal to [>=] 30 percent reduction from Baseline in blood phenylalanine [Phe] level) to treatment with Kuvan® (sapropterin…
- Trial name
- ENDURE (NCT01082328)
- Testing
- Kuvan®
- Where
- Norway
- Volunteers
- 59 people
- Sponsor
- Merck KGaA, Darmstadt, Germany