Clinical trials: Inherited Genetic Conditions
Prader-Willi Syndrome, Hyperphagia
Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome
The investigators propose a randomized double-blind 8 week treatment trial of intranasal oxytocin (IN-OXT) vs. placebo in 24 subjects aged 5 to 18 years with PWS in order to assess IN-OXT's affect on (1) Eating behaviors (2)…
- Trial name
- OXT-PWS (NCT02629991)
- Testing
- Intranasal Oxytocin (IN-OXT)
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Montefiore Medical Center
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
Anemia, Sickle Cell, Sickle Cell Disease
Preventing Sickle Cell Kidney Disease
Untreated hypertension and renal injury are risk factors for increased morbidity and mortality in sickle cell disease, yet early markers of progressive disease have not been identified and therapies to prevent the development of…
- Conditions
- Anemia, Sickle Cell, Sickle Cell Disease, Kidney Disease, Hypertension
- Trial name
- NCT02373241
- Testing
- Losartan
- Where
- United States
- Volunteers
- 1 people, healthy volunteers welcome
- Sponsor
- University of Alabama at Birmingham
Fanconi Anemia
Eltrombopag for Fanconi Anemia
Background: Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly.
- Trial name
- NCT03206086
- Testing
- Eltrombopag
- Where
- United States
- Volunteers
- 25 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Fragile X Syndrome, Genetic Diseases
Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
The purpose of the study is to test the efficacy of a 20 week multi-modal treatment comprised of lovastatin or placebo, and the Parent-implemented Language Intervention (PILI) in children with fragile X syndrome (FXS).
- Trial name
- NCT02642653
- Testing
- Lovastatin
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- University of California, Davis
Pruritus, Atopic Dermatitis
Blinded, Randomized Study Evaluating Aurstat Versus Control in the Treatment of Atopic Dermatitis Associated Pruritus
To demonstrate the ability of Aurstat to reduce pruritus in subjects with mild to moderate atopic dermatitis. Efficacy results will be based on subject assessment, IGA, and photographic evidence based on ordinal scales for…
- Trial name
- AUR0613 (NCT01905631)
- Testing
- Aurstat Anti-Itch Hydrogel (Aurstat)
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- The Center for Clinical and Cosmetic Research
Leber Congenital Amaurosis 10, Blindness
Extension Study to Study PQ-110-001 (NCT03140969)
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- INSIGHT (NCT03913130)
- Testing
- QR-110
- Where
- 3 sites in United States, Belgium
- Volunteers
- 9 people
- Sponsor
- Laboratoires Thea
Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis
Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases
The purpose of this study is to determine a safe dose of BPX-501 gene modified T cells infused after a haplo-identical stem cell transplant to facilitate engraftment and the safety of Rimiducid (AP1903) on day 7 to prevent GVHD.
- Conditions
- Primary Immune Deficiency Disorders, Hemophagocytic Lymphohistiocytosis, Inherited Bone Marrow Failure Syndrome, Hemoglobinopathies
- Trial name
- NCT02231710
- Testing
- BPX-501 and Rimiducid
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Bellicum Pharmaceuticals
Lennox-Gastaut Syndrome
A Placebo-Controlled, Double-Blind Comparative Study of E2080 in Lennox-Gastaut Syndrome Patients (Study E2080-J081-304)
To confirm that the combination therapy of rufinamide has superior efficacy compared to placebo in patients with Lennox-Gastaut syndrome.
- Trial name
- NCT01146951
- Testing
- Rufinamide (E2080)
- Where
- 23 sites in Japan
- Volunteers
- 66 people
- Sponsor
- Eisai Limited
Turner Syndrome
Somatropin Treatment to Final Height in Turner Syndrome
A randomized, controlled trial in girls with Turner syndrome at least 7 years old and younger than 13 at study entry, to determine the efficacy and safety of Humatrope (somatropin) treatment in promoting linear growth to final…
- Trial name
- GDCT (NCT00191113)
- Testing
- Somatropin, Ethinyl estradiol, Medroxyprogesterone acetate
- Where
- 14 sites in Canada
- Volunteers
- 154 people
- Sponsor
- Eli Lilly and Company
Nervous System Malformations, Arthropathy, Neurogenic
Anakinra to Treat Patients With Neonatal Onset Multisystem Inflammatory Disease
This study will evaluate the safety and effectiveness of anakinra (Kineret) for treating patients with neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurological, cutaneous and…
- Conditions
- Nervous System Malformations, Arthropathy, Neurogenic, Urticaria, Papilledema
- Trial name
- NCT00069329
- Testing
- anakinra
- Where
- United States
- Volunteers
- 43 people
- Sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Urea Cycle Disorders
Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders
Protocol HPN-100-005 was the first study of HPN-100 in pediatric subjects with urea cycle disorders (UCDs) and was a fixed-sequence, open-label, switch over study of HPN-100 with a long-term (12 month) safety extension designed…
- Trial name
- NCT00947544
- Testing
- HPN-100, NaPBA
- Where
- 8 sites in United States, Canada
- Volunteers
- 17 people
- Sponsor
- Amgen
Autoimmune Pancytopenia, Autoimmune Lymphoproliferative Syndrome (ALPS)
Sirolimus for Autoimmune Disease of Blood Cells
Treatment for patients with autoimmune destruction of blood cells is poor. The part of the body that fights infections is called the immune system and white blood cells (WBCs) are part of the immune system.
- Conditions
- Autoimmune Pancytopenia, Autoimmune Lymphoproliferative Syndrome (ALPS), Evans Syndrome, Idiopathic Thrombocytopenic Purpura
- Trial name
- NCT00392951
- Testing
- sirolimus
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Children's Hospital of Philadelphia
Sickle Cell Crisis, Acute Pain
Low-dose Ketamine vs Morphine for Vaso-occlusive Crisis in Sicklers
This clinical trial will inform of the role of Low dose ketamine in the acute treatment of severe painful sickle cell crisis in children in a day-case sickle cell centre.
- Trial name
- KEM-VOC (NCT02434939)
- Testing
- Low dose ketamine, Morphine
- Where
- Uganda
- Volunteers
- 240 people
- Sponsor
- Makerere University
Kidney, Polycystic
HALT Progression of Polycystic Kidney Disease Study A
The efficacy of interruption of the renin-angiotensin-aldosterone system (RAAS) on the progression of cystic disease and on the decline in renal function in autosomal dominant kidney disease (ADPKD) will be assessed in two…
- Trial name
- HALT PKD A (NCT00283686)
- Testing
- Lisinopril, Telmisartan, Standard Blood Pressure Control
- Where
- 7 sites in United States
- Volunteers
- 558 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
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.
Mucopolysaccharidoses
Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network
Mucopolysaccharidosis (MPS) syndromes are disorders characterized by enzyme deficiencies, and they have been linked to heart health complications.
- Trial name
- NCT01586871
- Where
- 2 sites in United States
- Volunteers
- 1,147 people
- Sponsor
- University of Minnesota
Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia
T-cell Depleted Alternative Donor Transplantation
The primary purpose is to determine the ability of CD34+ selection and T cell depletion using the CliniMACS® device to prevent severe acute graft-versus-host disease (GVHD) in patients receiving a stem cell transplant from an…
- Conditions
- Acute Lymphoblastic Leukemia, Acute Myeloid Leukemia, Chronic Myeloid Leukemia, Myelodysplastic Syndrome
- Trial name
- NCT00968864
- Testing
- CliniMACS® (T cell depletion)
- Where
- United States
- Volunteers
- 53 people
- Sponsor
- Wake Forest University Health Sciences
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
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 12 Years and Older With the G551D Mutation
The purpose of this study was to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis aged 12 years and older who have the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR)…
- Trial name
- STRIVE (NCT00909532)
- Testing
- Ivacaftor
- Where
- 65 sites in United States, Australia and 6 more
- Volunteers
- 167 people
- Sponsor
- Vertex Pharmaceuticals Incorporated