Clinical trials: Genetic Conditions
Epilepsy, Epilepsy, Generalized
Clobazam in Patients With Lennox-Gastaut Syndrome
The purpose of this study is to evaluate the safety and efficacy of clobazam as adjunctive therapy in the treatment of seizures which lead to drop attacks (drop seizures) in patients 2 to 60 years of age with Lennox-Gastaut…
- Conditions
- Epilepsy, Epilepsy, Generalized, Seizures
- Trial name
- NCT00518713
- Testing
- Clobazam Low Dose, Clobazam Medium Dose, Clobazam High Dose
- Where
- 53 sites in United States, Australia and 3 more
- Volunteers
- 238 people
- Sponsor
- Lundbeck LLC
Retinitis Pigmentosa
Evoked Retinal Response
Retinitis pigmentosa (RP) is the name given to a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
- Trial name
- NCT01415453
- Testing
- Ultrasound Stimulus
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Columbia University
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)
Stem Cell Transplantation, Bone Marrow Transplantation
Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells
Many genetic diseases of lymphohematopoietic cells (such as sickle cell anemia, thalassemia, Diamond-Blackfan anemia, Combined Immune Deficiency (CID), Wiskott-Aldrich syndrome, chronic granulomatous disease, X-linked…
- Conditions
- Stem Cell Transplantation, Bone Marrow Transplantation, Peripheral Blood Stem Cell Transplantation, Allogeneic Transplantation
- Trial name
- NCT02512679
- Testing
- Cyclophosphamide Dose Level 1, Cyclophosphamide Dose Level 2, Cyclophosphamide Dose Level 3
- Volunteers
- 20 people
- Sponsor
- Children's Hospital Los Angeles
Gout, Hyperuricemia
The Diet Gout Trial
Unhealthy diet has long been associated with high uric acid levels and gout. The DASH diet may lower uric acid levels. This study will examine the effects of the DASH diet on uric acid in adults with a history of gout.
- Trial name
- DIGO (NCT03569020)
- Testing
- Subsidy for food purchases and dietitian education
- Where
- 2 sites in United States
- Volunteers
- 43 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
Gout
Safety/Efficacy Study to Evaluate of MBX-102 in Combination With Allopurinol in Gout Patients
The purpose of this study is to evaluate the efficacy, safety and tolerability of MBX-102 in combination with allopurinol compared to allopurinol alone when administered orally once a day for four weeks to gout patients with an…
- Trial name
- NCT01399008
- Testing
- Arhalofenate, Allopurinol, Colchicine
- Where
- 24 sites in United States, Canada and 1 more
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Gilead Sciences
Tourette Syndrome
Transcranial Magnetic Stimulation for Children With Tourette's Syndrome
Tics are the core symptom of Tourette syndrome. These are repetitive, sudden, semi-voluntary movements or sounds. In some children, these tics can be especially bad and require treatment, however, options are limited.
- Trial name
- TICS (NCT02356003)
- Testing
- Low frequency repetitive transcranial magnetic stimulation
- Where
- Canada
- Volunteers
- 10 people
- Sponsor
- University of Calgary
Hunter Syndrome, Mucopolysaccharidosis II
Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy
The objective of this study is to determine the safety of once weekly dosing of idursulfase 0.5 mg/kg administered by intravenous (IV) infusion for male Hunter syndrome patients ≤ 5 years old.
- Conditions
- Hunter Syndrome, Mucopolysaccharidosis II, MPS II
- Trial name
- NCT00607386
- Testing
- Idursulfase
- Where
- 3 sites in Brazil, Poland and 1 more
- Volunteers
- 28 people
- Sponsor
- Shire
Idiopathic Short Stature, Failure to Thrive
Ghrelin Levels in Children With Poor Growth
The investigators hypothesize that low serum ghrelin levels may characterize a group of patients with poor weight gain and/or linear growth who do not have any other identified cause for growth failure.
- Trial name
- NCT01070173
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- Tripler Army Medical Center
Alpha1-antitrypsin Deficiency
GLASSIA Safety, Immunogenicity, and Bronchoalveolar Lavage Study
The purpose of the study is 2-fold: (1) to evaluate the safety and potential immunogenicity of GLASSIA following intravenous (IV) administration via in-line filtration; and (2) to assess the effects of GLASSIA augmentation…
- Trial name
- NCT02525861
- Testing
- GLASSIA
- Where
- 18 sites in United States, Canada
- Volunteers
- 34 people
- Sponsor
- Baxalta now part of Shire
Infertility, Aneuploidy
Single Embryo TrAnsfeR of Euploid Embryo
The purpose of the current study is to evaluate the effect of preimplantation genetic screening (PGS) by next generation sequencing (NGS) compared to standard morphological assessment of embryos on pregnancy rates through a…
- Trial name
- STAR (NCT02268786)
- Testing
- Preimplantation Genetic Screening by NGS
- Where
- 38 sites in United States, Australia and 2 more
- Volunteers
- 661 people
- Sponsor
- Illumina, Inc.
Peutz-Jeghers Syndrome
Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers Syndrome
Pilot study, Open-label, Phase II study of Everolimus. Objective: To determine if Everolimus can diminish large gastrointestinal polyps in patients with Peutz-Jeghers Syndrome.
- Trial name
- NCT00811590
- Testing
- Everolimus
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- University of Utah
ADNP Syndrome
Low-Dose Ketamine in Children With ADNP Syndrome
This is a Phase 2A, single dose, open-label study to evaluate the safety, tolerability, and efficacy of a low-dose, 40-minute infusion into the veins (intravenous infusion or "IV") of ketamine in children with ADNP syndrome…
- Trial name
- NCT04388774
- Testing
- Ketamine
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Alexander Kolevzon
Sickle Cell Disease
Effect of Simvastatin Treatment on Vaso-occlusive Pain in Sickle Cell Disease
The purpose of this study is to determine whether simvastatin is effective in reducing the frequency and intensity of vaso-occlusive pain episodes in patients with sickle cell disease.
- Trial name
- NCT01702246
- Testing
- Simvastatin
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- UCSF Benioff Children's Hospital Oakland
Fragile X Syndrome, FXS
A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
This is a single-center, randomized, double-blind, 2-period crossover study to explore the effects of BPN14770 on cognitive function and behavior in subjects with Fragile X Syndrome.
- Conditions
- Fragile X Syndrome, FXS, Fra(X) Syndrome
- Trial name
- NCT03569631
- Testing
- BPN14770
- Where
- United States
- Volunteers
- 30 people
- Sponsor
- Tetra Discovery Partners
HIV/AIDS, Albuminuria
Optimal Management of HIV Infected Adults at Risk for Kidney Complications in Nigeria
In this study, the Investigators plan to determine the optimal means to prevent or slow the progression of kidney disease among genetically at-risk northern Nigerian HIV-infected adults.
- Conditions
- HIV/AIDS, Albuminuria, Kidney Diseases, Genetic Predisposition
- Trial name
- R3 (NCT03201939)
- Testing
- Lisinopril
- Where
- Nigeria
- Volunteers
- 66 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
Other Conditions That May Be A Focus of Clinical Attention
Organic Cation Transporter 1 (OCT1), on Response to Metformin in Healthy Subjects
Specific Objectives: To determine if individuals who carry a decreased or non-functional variant of OCT1 exhibit differences in the pharmacokinetics of metformin in comparison to individuals who carry the common allele.
- Trial name
- NCT00187681
- Testing
- Metformin
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- University of California, San Francisco
Colorectal Cancer
Study Evaluating Biomarkers in Patients With Colorectal Cancer and Native KRAS Treated With Chemotherapy + Cetuximab
Advanced colorectal cancer (ACRC) is a heterogeneous disease and classification of patients is nowadays inefficient. Roughly twenty per cent of patients present with favorable figures (less than 4 liver nodules and less than 5…
- Trial name
- POSIBA (NCT01276379)
- Testing
- FOLFIRI (m), FOLFOX-6 (m), Cetuximab
- Where
- 27 sites in Spain
- Volunteers
- 221 people
- Sponsor
- Grupo Espanol Multidisciplinario del Cancer Digestivo
Brain and Central Nervous System Tumors, Childhood Germ Cell Tumor
Dasatinib, Ifosfamide, Carboplatin, and Etoposide in Treating Young Patients With Metastatic or Recurrent Malignant Solid Tumors
RATIONALE: Dasatinib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth. Drugs in chemotherapy, such as ifosfamide, carboplatin, and etoposide, work in different ways to stop the growth of…
- Conditions
- Brain and Central Nervous System Tumors, Childhood Germ Cell Tumor, Extragonadal Germ Cell Tumor, Kidney Cancer
- Trial name
- NCT00788125
- Testing
- carboplatin, dasatinib, etoposide phosphate
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- City of Hope Medical Center
Bowel Incontinence
A Study to Evaluate the Safety, Tolerability and Effectiveness of the Renew Insert in Treating Accidental Bowel Leakage
The purpose of this study is to determine whether the use of the Renew Insert is effective, tolerable and safe in the treatment of accidental bowel leakage due to bowel incontinence.
- Trial name
- REST (NCT01475474)
- Testing
- Renew Insert
- Where
- 3 sites in United States
- Volunteers
- 97 people
- Sponsor
- Renew Medical