Clinical trials: Genetic Conditions
Anemia, Sickle Cell, Pain
Intranasal Fentanyl for Initial Treatment of a Vaso-occlusive Crisis
The purpose of this study is to determine if intranasal fentanyl can decrease the pain of patients with sickle cell disease who present to the pediatric emergency department with a vaso-occlusive crisis.
- Trial name
- NCT01482091
- Testing
- Fentanyl Citrate, Normal Saline
- Where
- United States
- Volunteers
- 124 people
- Sponsor
- Montefiore Medical Center
Hemophilia B
Dose Confirmation Trial of AAV5-hFIXco-Padua
This is an open-label, single-dose, single-arm, multi-center trial, with a screening, a treatment + post-treatment follow-up phase, and a long-term follow-up phase.
- Trial name
- NCT03489291
- Testing
- AAV5-hFIXco-Padua (AMT-061)
- Where
- 4 sites in United States
- Volunteers
- 3 people
- Sponsor
- CSL Behring
MPS 7, Sly Syndrome
A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
The Phase 3 study will use a novel randomized, intra-subject placebo-controlled, single crossover design, referred to as Blind Start, to evaluate the safety and efficacy of UX003.
- Conditions
- MPS 7, Sly Syndrome, Mucopolysaccharidosis, MPS VII
- Trial name
- NCT02230566
- Testing
- UX003
- Where
- 4 sites in United States
- Volunteers
- 12 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Multiple Osteochondroma, Ollier Disease
Ready to Sail: Evaluating Sailing's Feasibility as Ergotherapy
Background Individuals with rare skeletal disorders frequently experience psychological distress, social isolation, unmet needs, and significant challenges due to limited treatment options.
- Conditions
- Multiple Osteochondroma, Ollier Disease, Osteogenesis Imperfecta
- Trial name
- PaS (NCT06397443)
- Testing
- 5-day sailing activity
- Where
- Italy
- Volunteers
- 8 people
- Sponsor
- Istituto Ortopedico Rizzoli
Disease Susceptibility
Clopidogrel Pharmacogenomics Project
Loss-of-function mutation of the gene encoding the CYP450 2C19 enzyme has emerged as a likely determinant of resistance to clopidogrel therapy.
- Trial name
- NCT01097343
- Testing
- clopidogrel 75 mg, Clopidogrel 150 mg
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- University of North Carolina, Chapel Hill
Genetic Obesity, Obesity
Setmelanotide Phase 2 Treatment Trial in Participants With Rare Genetic Disorders of Obesity
The purpose of the study was to determine the effect of setmelanotide (RM-493) on weight, hunger assessments, and other factors in participants with rare genetic disorders of obesity.
- Conditions
- Genetic Obesity, Obesity, Obesity Due to Melanocortin 4 Receptor Deficiency
- Trial name
- NCT03013543
- Testing
- Setmelanotide
- Where
- 58 sites in United States, Canada and 7 more
- Volunteers
- 213 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
Cerebellar Ataxia, Spinocerebellar Ataxias
Using Real-time fMRI Neurofeedback and Motor Imagery to Enhance Motor Timing and Precision in Cerebellar Ataxia
The aim of the research is to improve motor function in people with cerebellar ataxia by using neuroimaging methods and mental imagery to "exercise" motor networks in the brain.
- Conditions
- Cerebellar Ataxia, Spinocerebellar Ataxias, Cerebellar Degeneration
- Trial name
- NCT05436262
- Testing
- Real-time fMRI with neurofeedback of motor imagery
- Where
- United States
- Volunteers
- 21 people
- Sponsor
- Johns Hopkins University
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
Sickle Cell Disease, Sickle Cell Nephropathy
Effect of Atorvastatin on Endothelial Dysfunction and Albuminuria in Sickle Cell Disease
The purpose of this research study is to learn about the effect of the drug, atorvastatin, on blood vessels in patients with sickle cell disease.
- Trial name
- ENDO (NCT01732718)
- Testing
- Atorvastatin
- Where
- United States
- Volunteers
- 13 people
- Sponsor
- University of North Carolina, Chapel Hill
Alpha1-Antitrypsin Deficiency
A Study to Evaluate Safety, Tolerability and Pharmacokinetics of Two Different Doses of Alpha1-Proteinase Inhibitor Subcutaneous (Human) 15% in Participants With Alpha1-Antitrypsin Deficiency
The purpose of this study is to evaluate the safety and tolerability of 72 milligrams per kilogram (mg/kg) and 180 mg/kg Alpha-1 15%, administered as a single-dose subcutaneous (SC) infusion and subsequently as weekly SC…
- Trial name
- NCT04722887
- Testing
- Alpha-1 15%, Liquid Alpha1-Proteinase Inhibitor (Human)
- Where
- 5 sites in United States
- Volunteers
- 17 people
- Sponsor
- Grifols Therapeutics LLC
Klinefelter Syndrome, XXY Syndrome
Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome
The purpose of this study is to determine if testosterone replacement therapy leads to changes in psychological factors and/or motor skills in adolescent males with 47,XXY (also called Klinefelter syndrome).
- Trial name
- TestoXXY/KS (NCT01585831)
- Testing
- Testosterone gel 1%
- Where
- United States
- Volunteers
- 48 people
- Sponsor
- University of Colorado, Denver
Kidney, Polycystic
HALT Progression of Polycystic Kidney Disease Study B
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 B (NCT01885559)
- Testing
- Lisinopril, Telmisartan
- Where
- 7 sites in United States
- Volunteers
- 486 people
- Sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Alpha 1-Antitrypsin Deficiency
Experimental Gene Transfer Procedure to Treat Alpha 1-Antitrypsin (AAT) Deficiency
Individuals with a deficiency of the alpha 1-antitrypsin (AAT) protein are at risk for developing emphysema and liver damage. Researchers have developed a way to introduce normal AAT genes into muscle cells with the expectation…
- Trial name
- AAT (NCT00430768)
- Testing
- rAAV1-CB-hAAT
- Where
- 2 sites in United States
- Volunteers
- 9 people
- Sponsor
- University of Massachusetts, Worcester
CDKL5 Deficiency Disorder
Study of Adjunctive Ganaxolone Treatment in Children and Young Adults With CDKL5 Deficiency Disorder
A clinical study to evaluate the efficacy, safety, and tolerability of adjunctive ganaxolone therapy compared to placebo for the treatment of seizures in children and young adults with genetically confirmed CDKL5 gene mutation.
- Trial name
- Marigold (NCT03572933)
- Testing
- ganaxolone
- Where
- 36 sites in United States, Australia and 6 more
- Volunteers
- 101 people
- Sponsor
- Marinus Pharmaceuticals
Chronic Obstructive Pulmonary Disease, Alpha1-antitrypsin Deficiency
Stage 1 Study of ARALAST NP and GLASSIA in A1PI Deficiency
The purpose of this study is to conduct a pilot study to evaluate the safety and efficacy of weekly administration of Alpha1-Proteinase Inhibitor (A1PI) augmentation therapy in subjects with A1PI deficiency and emphysema/ chronic…
- Trial name
- NCT02722304
- Testing
- ARALAST NP 60 mg/kg, ARALAST NP 120 mg/kg, GLASSIA 60 mg/kg
- Where
- 17 sites in United States, Australia and 1 more
- Volunteers
- 7 people
- Sponsor
- Baxalta now part of Shire
Alpha-1 Antitrypsin Deficiency, Emphysema
Targeting Pulmonary Perfusion in Alpha-1 Antitrypsin Deficiency
The aim of this study is to test whether aspirin improves endothelial function in alpha-1 antitrypsin deficiency-associated lung disease, measured by pulmonary microvascular blood flow on magnetic resonance imaging (MRI) and with…
- Conditions
- Alpha-1 Antitrypsin Deficiency, Emphysema, Chronic Obstructive Pulmonary Disease
- Trial name
- NCT03008915
- Testing
- Aspirin, Withdrawal from alpha1 antitrypsin replacement therapy
- Where
- United States
- Volunteers
- 15 people
- Sponsor
- Columbia University
Behcet Disease
1 Year of Treatment With Canakinumab in Behçet's Disease Patients With Neurologic or Vascular Involvement
Primary objective of the study was to evaluate the safety and efficacy of canakinumab on the clinical and inflammatory findings of Behced Disease patients with neurologic and vascular involvement.
- Trial name
- Behcet (NCT02756650)
- Testing
- Canakinumab
- Where
- Turkey (Türkiye)
- Volunteers
- 8 people
- Sponsor
- Novartis Pharmaceuticals
Tic Disorders, Tourette Syndrome
Comparison of Keppra and Clonidine in the Treatment of Tics
The goal of this study is to confirm that levetiracetam has a better tic-suppressing profile than that of the widely used tic-suppressing medication, clonidine.
- Trial name
- NCT00370838
- Testing
- Levetiracetam, Clonidine
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Harvey S. Singer
Cryopyrin-associated Periodic Syndromes, Familial Cold Autoinflammatory Syndrome
Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease
This trial will provide long-term safety, efficacy and tolerability of ACZ885 in CAPS patients that completed the CACZ885D2307 study
- Conditions
- Cryopyrin-associated Periodic Syndromes, Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, Neonatal Onset Multisystem Inflammatory Disease
- Trial name
- NCT01576367
- Testing
- ACZ885
- Where
- 12 sites in Belgium, Canada and 5 more
- Volunteers
- 17 people
- Sponsor
- Novartis Pharmaceuticals
Constipation, Cystic Fibrosis
Short Term Safety and Efficacy of Lubiprostone in Adults With Cystic Fibrosis
The purpose of this study is to determine the short term safety and effectiveness of lubiprostone when used for constipation in adults with cystic fibrosis.
- Trial name
- NCT00706004
- Testing
- lubiprostone
- Where
- United States
- Volunteers
- 9 people
- Sponsor
- University of Arkansas