Clinical trials: Genetic Conditions
Growth Failure, X-linked Severe Combined Immunodeficiency (XSCID)
Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1
This study will evaluate the safety and effectiveness of insulin-like growth factor-1 (IGF-1) to treat patients with X-linked severe combined immunodeficiency (XSCID).
- Conditions
- Growth Failure, X-linked Severe Combined Immunodeficiency (XSCID), Growth Hormone Resistence
- Trial name
- NCT00490100
- Testing
- Increlex
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Von Willebrand Diseases
Minimize Menorrhagia in Women With Von Willebrand Disease
This is an outpatient, 24-week Phase III prospective, randomized, crossover trial comparing recombinant von Willebrand factor (rVWF) and tranexamic acid (TA, Lysteda®) to minimize menorrhagia in women with von Willebrand disease…
- Trial name
- VWDMin (NCT02606045)
- Testing
- recombinant von Willebrand factor, tranexamic acid
- Where
- 19 sites in United States
- Volunteers
- 39 people
- Sponsor
- Margaret Ragni
PTEN Gene Mutation, PTEN Hamartoma Tumor Syndrome
RAD001 and Neurocognition in PTEN Hamartoma Tumor Syndrome
Phosphatase and TENsin homolog (PTEN) gene germline mutations are associated with a spectrum of clinical manifestations characterized by neurocognitive deficits, intellectual disability, autism symptomatology, skin lesions…
- Trial name
- NCT02991807
- Testing
- RAD001
- Where
- 3 sites in United States
- Volunteers
- 46 people
- Sponsor
- Boston Children's Hospital
Duchenne Muscular Dystrophy (DMD)
A Study to Assess Safety/Tolerability, pk, Effects on Histology, Clinical Parameters of Givinostat in Children With DMD
The primary objective of Parts 1 and 2 of the study were to establish the histologic effects of givinostat administered chronically at the selected daily dose.
- Trial name
- NCT01761292
- Testing
- Givinostat
- Where
- 4 sites in Italy
- Volunteers
- 20 people
- Sponsor
- Italfarmaco
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
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
Tuberous Sclerosis Complex (TSC), Lymphangioleiomyomatosis (LAM)
Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)
This study will evaluate the safety and efficacy of RAD001 in treating patients with Angiomyolipoma associated with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis.
- Trial name
- EXIST-2 (NCT00790400)
- Testing
- Everolimus (RAD001)
- Where
- 25 sites in United States, Canada and 9 more
- Volunteers
- 118 people
- Sponsor
- Novartis Pharmaceuticals
Hereditary Tyrosinemia, Type I
Bioavailability Food-Effect Study of an Oral Nitisinone Formulation to Treat Hereditary Tyrosinemia (HT-1)
The purpose of this study is to compare the bioavailability of the Test Product, Nitisinone 10 mg Tablet, under fasting and fed conditions (food-effect).
- Trial name
- NCT02750332
- Testing
- Nitisinone
- Where
- South Africa
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Cycle Pharmaceuticals Ltd.
Turner Syndrome, Renal Insufficiency, Chronic
Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq
The main purpose of this study is to establish an optimal monitoring regimen in NutropinAq treated children, using newly developed capillary blood spot IGF-1 measurement technology.
- Conditions
- Turner Syndrome, Renal Insufficiency, Chronic, Pituitary Diseases, Dwarfism
- Trial name
- OPTIMA (NCT00234533)
- Testing
- Somatropin (rDNA origin)
- Where
- 45 sites in Belgium, Czechia and 12 more
- Volunteers
- 251 people
- Sponsor
- Ipsen
Hypertension, Angina Pectoris
Amlodipine/Atorvastatin (Caduet®) Drug Use Investigation (Regulatory Post Marketing Commitment Plan)
In this survey, to collect the safety and efficacy information of Amlodipine /Atorvastatin (Caduet® Combination Tablets) in daily medical practice will be examined.
- Conditions
- Hypertension, Angina Pectoris, Hypercholesterolemia, Familial Hypercholesterolemia
- Trial name
- NCT01107743
- Testing
- Amlodipine/Atorvastatin
- Volunteers
- 1,291 people
- Sponsor
- Pfizer's Upjohn has merged with Mylan to form Viatris Inc.
Labor Pain, Post-cesarean Delivery
Mu-Opioid Receptor Genetic Polymorphism and Intrathecal Analgesia
Pharmacogenetics has allowed clinicians to identify associations between an individual's genetic profile and his/her response to drugs.
- Trial name
- NCT00418015
- Testing
- Blood Draw
- Where
- United States
- Volunteers
- 293 people, healthy volunteers welcome
- Sponsor
- Northwestern University
Niemann-Pick Disease, Type C
VTS-270 to Treat Niemann-Pick Type C1 (NPC1) Disease
Due to different study designs, the sponsor separated Part C into a separate registration (NCT04958642), leaving Parts A/B here in NCT02534844.
- Trial name
- NCT02534844
- Testing
- Parts A/B: Adrabetadex
- Where
- 29 sites in United States, Australia and 7 more
- Volunteers
- 56 people
- Sponsor
- Mandos LLC
Chronic Kidney Diseases, Alport Syndrome
An Extended Access Program for Bardoxolone Methyl in Patients With CKD (EAGLE)
This extended access study will assess the long-term safety and tolerability of bardoxolone methyl in qualified patients with chronic kidney disease (CKD) who previously participated in one of the qualifying clinical studies with…
- Conditions
- Chronic Kidney Diseases, Alport Syndrome, Autosomal Dominant Polycystic Kidney
- Trial name
- EAGLE (NCT03749447)
- Testing
- Bardoxolone methyl
- Where
- 87 sites in United States, Australia and 4 more
- Volunteers
- 270 people
- Sponsor
- Biogen
Bone Marrow Failure Syndrome, Thalassemia
Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
In this study, the investigators test 2 dose levels of thiotepa (5 mg/kg and 10 mg/kg) added to the backbone of targeted reduced dose IV busulfan, fludarabine and rabbit anti-thymocyte globulin (rATG) to determine the minimum…
- Conditions
- Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia
- Trial name
- NCT03513328
- Testing
- Thiotepa--single daily dose, Thiotepa--escalated dose
- Where
- United States
- Volunteers
- 6 people
- Sponsor
- University of Florida
Mitochondrial Diseases, Drug Resistant Epilepsy
A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy
This is a parallel-arm, double-blind, placebo-controlled study with a screening phase that includes a 28-day run-in phase to establish baseline seizure frequency, followed by a 24-week, randomized, placebo-controlled phase.
- Conditions
- Mitochondrial Diseases, Drug Resistant Epilepsy, Leigh Disease, Leigh Syndrome
- Trial name
- MIT-E (NCT04378075)
- Testing
- Vatiquinone
- Where
- 27 sites in United States, Canada and 7 more
- Volunteers
- 68 people
- Sponsor
- PTC Therapeutics
Von Willebrand Disease
IL-11 in Women With Von Willebrand Disease and Refractory Menorrhagia
The purpose of this study is to determine the efficacy and safety of rhIL-11, when given subcutaneously for six consecutive months, in reducing menstrual blood loss in women with type 1 von Willebrand disease and refractory…
- Trial name
- NCT00524342
- Testing
- Oprelvekin, Interleukin 11, IL-11
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- Margaret Ragni
Mitochondrial Diseases
A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease
A long-term extension study to assess the safety, tolerability and efficacy of cysteamine bitartrate delayed-release capsules (RP103) in children with inherited mitochondrial diseases who previously enrolled into study…
- Trial name
- NCT02473445
- Testing
- Cysteamine Bitartrate
- Where
- 5 sites in United States
- Volunteers
- 22 people
- Sponsor
- Amgen
Alkaptonuria
Long-Term Study of Nitisinone to Treat Alkaptonuria
This 3-year study will examine the safety and effectiveness of long-term use of nitisinone (Orfadin) for treating joint problems in patients with alkaptonuria, an inherited disease in which a compound called homogentisic acid…
- Trial name
- NCT00107783
- Testing
- Nitisinone (NTBC)
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Chronic Kidney Disease, Autosomal Dominant Polycystic Kidney Disease
Efficacy and Safety of Tolvaptan in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease
The purpose of the study is to determine whether tolvaptan is effective and safe for the treatment of late-stage chronic kidney disease due to autosomal dominant polycystic kidney disease (ADPKD)
- Trial name
- NCT02160145
- Testing
- Tolvaptan (OPC-41061)
- Where
- 230 sites in United States, Argentina and 20 more
- Volunteers
- 1,370 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
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