Clinical trials: Multiple Primary Neoplasm
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Hyperparathyroidism, Hypercalcemia
Studies of Elevated Parathyroid Activity
Observational Phase: Patients whose parathyroid activity is elevated above normal are referred to as having hyperparathyroidism.
- Conditions
- Hyperparathyroidism, Hypercalcemia, Parathyroid Neoplasm, Multiple Endocrine Neoplasia
- Trial name
- NCT00001277
- Testing
- 68Ga-Dotatate, 18F-DOPA
- Where
- United States
- Volunteers
- 1,553 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Chronic Myeloproliferative Disorders, Graft Versus Host Disease
Donor Peripheral Stem Cell Transplant in Treating Patients With Advanced Hematologic Cancer or Other Disorders
RATIONALE: Giving chemotherapy and total-body irradiation before a donor peripheral stem cell transplant helps stop the growth of cancer or abnormal cells.
- Conditions
- Chronic Myeloproliferative Disorders, Graft Versus Host Disease, Leukemia, Lymphoma
- Trial name
- NCT00544115
- Testing
- busulfan, cyclophosphamide, cyclosporine
- Volunteers
- 260 people
- Sponsor
- City of Hope Medical Center
Cystic Fibrosis, Pulmonary Fibrosis
Role of Genetic Factors in the Development of Lung Disease
This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease.
- Conditions
- Cystic Fibrosis, Pulmonary Fibrosis, Tuberous Sclerosis, Asthma
- Trial name
- NCT00001532
- Where
- 2 sites in United States
- Volunteers
- 3,500 people, healthy volunteers welcome
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
Cancer
Irradiated Donor Lymphocyte Infusion in Treating Patients With Relapsed or Refractory Hematologic Cancer or Solid Tumor
RATIONALE: When irradiated lymphocytes from a donor are infused into the patient they may help the patient's immune system kill cancer cells.
- Trial name
- NCT00161187
- Testing
- therapeutic allogeneic lymphocytes
- Where
- United States
- Volunteers
- 37 people
- Sponsor
- University of Medicine and Dentistry of New Jersey
Breast Cancer, Leukemia
High-Dose Chemotherapy, Total-Body Irradiation, and Autologous Stem Cell Transplantation or Bone Marrow Transplantation in Treating Patients With Hematologic Cancer or Solid Tumors
RATIONALE: Radiation therapy uses high-energy x-rays to damage cancer cells. Drugs used in chemotherapy use different ways to stop cancer cells from dividing so they stop growing or die.
- Conditions
- Breast Cancer, Leukemia, Lymphoma, Multiple Myeloma and Plasma Cell Neoplasm
- Trial name
- NCT00060255
- Testing
- busulfan, carboplatin, carmustine
- Where
- United States
- Volunteers
- 451 people
- Sponsor
- Roswell Park Cancer Institute
Tuberous Sclerosis Complex, Lymphangioleiomyomatosis
Tuberous Sclerosis Complex and Lymphangioleiomyomatosis Pregnancy Registry (TSC-LAM Registry)
This study is an observational registry designed to gather information about Tuberous Sclerosis Complex (TSC) and Lymphangioleiomyomatosis (LAM) in pregnant women and their child.
- Trial name
- NCT06160310
- Where
- United States
- Volunteers
- 300 people
- Sponsor
- David M. Ritter
Primary Ciliary Dyskinesia
DCP (RaDiCo Cohort) (RaDiCo-DCP)
Primary Ciliary Dyskinesias (PCD) are rare, autosomal recessive respiratory diseases, due to a defect in mucociliary clearance linked to abnormalities in the structure and/or function of the cilia.
- Trial name
- DCP (NCT05951478)
- Where
- 32 sites in France
- Volunteers
- 300 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Meningococcal Disease
Safety and Immunogenicity of Novartis Meningococcal B Vaccine When Administered to Immunocompromised Children and Adolescents Compared to Healthy Subjects.
The study aims at evaluating the safety and immunogenicity of rMenB+OMV NZ when administered to subjects from 2 to 17 years of age with increased risk of meningococcal disease because either of primary or secondary complement…
- Trial name
- NCT02141516
- Testing
- rMenB+OMV
- Where
- 20 sites in Italy, Poland and 3 more
- Volunteers
- 239 people, healthy volunteers welcome
- Sponsor
- Novartis
Tuberous Sclerosis Complex
Roll-over Study to Collect and Assess Long-term Safety of Everolimus in Patients With TSC and Refractory Seizures Who Have Completed the EXIST-3 Study [CRAD001M2304] and Who Are Benefitting From Continued Treatment
The purpose of this study is to evaluate the long-term safety in patients with TSC and refractory seizures who are currently receiving everolimus treatment in the Novartis-sponsored EXIST-3 study and who are determined to be…
- Trial name
- NCT02962414
- Testing
- everolimus
- Where
- 67 sites in United States, Australia and 16 more
- Volunteers
- 206 people
- Sponsor
- Novartis Pharmaceuticals
Mitochondrial Myopathy
Safety, Tolerability, and Efficacy of MTP-131 for the Treatment of Mitochondrial Myopathy
Phase 1/2, multi-center, randomized, double-blind, multiple ascending dose, placebo-controlled study that enrolled 36 subjects with mitochondrial myopathy associated with genetically confirmed mitochondrial disease to evaluate…
- Trial name
- MMPOWER (NCT02367014)
- Testing
- elamipretide (low dose), elamipretide (intermediate dose), elamipretide (high dose)
- Where
- 4 sites in United States
- Volunteers
- 36 people
- Sponsor
- Stealth BioTherapeutics Inc.
Lennox Gastaut Syndrome, Dravet Syndrome
Epidyolex® in Lennox Gastaut, Dravet Syndrome and Tuberous Sclerosis Complex: an Observational Study in ITALY
This is a prospective, observational study on approximately 70-100 Real World participants affected by LGS, DS, or TSC treated with Epidyolex® as prescribed in the summary of product characteristics.
- Conditions
- Lennox Gastaut Syndrome, Dravet Syndrome, Tuberous Sclerosis Complex
- Trial name
- EpiTALY (NCT05485831)
- Testing
- Epidiolex 100 mg/mL Oral Solution
- Where
- 18 sites in Italy
- Volunteers
- 111 people
- Sponsor
- Jazz Pharmaceuticals
Cancer
Itraconazole Compared With Fluconazole to Prevent Infections in Patients Undergoing Peripheral Stem Cell or Bone Marrow Transplantation
RATIONALE: Giving itraconazole or fluconazole may be effective in preventing infections in patients undergoing peripheral stem cell or bone marrow transplantation.
- Trial name
- NCT00003883
- Testing
- fluconazole, itraconazole
- Where
- 2 sites in United States
- Volunteers
- 578 people
- Sponsor
- Fred Hutchinson Cancer Center
Myelodysplastic Syndrome, Chronic Myelomonocytic Leukemia
Shorter Course Tacro After NMA, Related Donor PBSCT With High-dose Posttransplant Cy for Hard-to-Engraft Malignancies
To see if it is possible to use short-duration tacrolimus after a peripheral blood stem cell transplant in certain malignancies that are considered difficult to engraft.
- Conditions
- Myelodysplastic Syndrome, Chronic Myelomonocytic Leukemia, Small Lymphocytic Lymphoma, Chronic Lymphocytic Leukemia
- Trial name
- NCT02556931
- Testing
- Fludarabine, Cyclophosphamide, Total body irradiation
- Where
- United States
- Volunteers
- 117 people
- Sponsor
- Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins
Tuberous Sclerosis Complex, Aspirin
Aspirin as an add-on Treatment of Refractory Epilepsy in Tuberous Sclerosis Complex
There had been much evidence in aspirin controlling tumorous conditions conducted by basic researches, especially through mammilian target of rapamycin (mTOR) pathway.
- Conditions
- Tuberous Sclerosis Complex, Aspirin, Epilepsy, Cognitive Decline
- Trial name
- NCT03356769
- Testing
- Aspirin, AED
- Where
- China
- Volunteers
- 98 people
- Sponsor
- Peking Union Medical College Hospital
Migraines
A Phase III Open-Label, Multi-Center, Long-Term Extension Study of Depakote ER in Subjects Who Either Completed or Prematurely Discontinued Due to Ineffectiveness From Study M02-488.
The purpose of this study is to determine if long-term treatment, up to 1 year, with Depakote ER is safe in the reduction of occurrence of migraine headaches in adolescents.
- Trial name
- NCT00195754
- Testing
- divalproex sodium
- Where
- United States
- Volunteers
- 114 people
- Sponsor
- Abbott
Primary Ciliary Dyskinesia, Primary Immune Deficiency
Defining the Genetic Etiology of Suppurative Lung Disease in Children and Adults
The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia…
- Conditions
- Primary Ciliary Dyskinesia, Primary Immune Deficiency, Kartagener Syndrome
- Trial name
- NCT04702243
- Testing
- Genetic Testing for PCD or PID, Unaffected Family Member Genetic Testing
- Where
- 8 sites in United States, Canada
- Volunteers
- 436 people
- Sponsor
- University of North Carolina, Chapel Hill
Tuberous Sclerosis
Adjunctive Ganaxolone Treatment (Part A) in TSC Followed by Long-term Treatment (Part B)
To assess preliminary safety and efficacy of ganaxolone as adjunctive therapy for the treatment of primary seizure types in patients with genetically- or clinically-confirmed TSC-related epilepsy through the end of the 12 week…
- Trial name
- TSC (NCT04285346)
- Testing
- Ganaxolone
- Where
- 7 sites in United States
- Volunteers
- 23 people
- Sponsor
- Marinus Pharmaceuticals
Dental Caries
Providers Against Cavities in Children's Teeth
The study is a multi-site, multi-level, and multi-component cluster randomized clinical trial (RCT) to address poor dental utilization (attendance) and untreated caries among 3-6 year old Medicaid-enrolled children attending…
- Trial name
- PACT (NCT03385629)
- Testing
- CSM theory-based didactic education and skills training, AAP-based didactic education, Practice EMR changes
- Where
- United States
- Volunteers
- 2,108 people, healthy volunteers welcome
- Sponsor
- Case Western Reserve University
Primary Immunodeficiency
A Study to Evaluate IGSC 20% Biweekly Dosing in Treatment-Experienced Participants and Loading/Maintenance Dosing in Treatment-Naïve Participants With Primary Immunodeficiency
The purpose of the study is to determine whether biweekly (every 2 weeks) administration of Immune Globulin Subcutaneous (Human), 20% Caprylate/Chromatography Purified (IGSC 20%) produces a steady-state area under the…
- Trial name
- NCT04566692
- Testing
- IGSC 20%
- Where
- 12 sites in United States
- Volunteers
- 33 people
- Sponsor
- Grifols Therapeutics LLC