Clinical trials: Genetic Conditions
Hyperuricemia, Gout
Magnetic Resonance Imaging in Subjects With Gouty Tophi
The purpose of this study is to determine the reproducibility of Magnetic Resonance Imaging (MRI) in the quantitative assessment of tophus volume.
- Trial name
- NCT00174954
- Testing
- MRI
- Volunteers
- 32 people
- Sponsor
- Takeda
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
Huntington's Disease
Randomized, Placebo Controlled Study Of The Efficacy And Safety Of PF-02545920 In Subjects With Huntington's Disease
This study is a 26 week, randomized, parallel group, double blind comparison of PF-02545920 5 mg, PF-02545920 20 mg, and placebo dosed BID in the treatment of motor impairment of subjects with Huntington's Disease.
- Trial name
- NCT02197130
- Testing
- PF-02545920
- Where
- 57 sites in United States, Canada and 3 more
- Volunteers
- 272 people
- Sponsor
- Pfizer
Atopic Dermatitis
Trial to Determine the Therapeutic Benefit of an OTC Cream on Dry, Itchy Skin of Adults and Children With Eczema
The objective of this 1 week trial is to evaluate the efficacy of an over-the-counter (OTC) 1% colloidal oatmeal skin protectant cream in adults and children with mild to moderate AD.
- Trial name
- NCT02691507
- Testing
- EpiCeram Skin Barrier Emulsion, Experimental Product 1% Colloidal Oatmeal Balm
- Where
- 2 sites in United States
- Volunteers
- 53 people, healthy volunteers welcome
- Sponsor
- Johnson & Johnson Consumer Inc. (J&JCI)
Irritable Bowel Syndrome Constipation Predominant
Effects of ROSE-010 on GI Transit in Constipation Predominant Irritable Bowel Syndrome (C-IBS) Patients
This trial will study the effects of an investigational (not FDA approved) medication, ROSE-010, on the movement of food through the stomach, small intestine and colon in females with constipation predominant irritable bowel…
- Trial name
- NCT01056107
- Testing
- ROSE-010
- Where
- United States
- Volunteers
- 52 people
- Sponsor
- Mayo Clinic
Chorea Associated With Huntington Disease
Alternatives for Reducing Chorea in Huntington Disease
The purpose of this study is to evaluate the safety, tolerability, and pharmacokinetics of SD-809 extended release (ER) in participants switching from tetrabenazine to SD-809 ER.
- Trial name
- ARC-HD (NCT01897896)
- Testing
- SD-809
- Where
- 38 sites in United States, Australia and 1 more
- Volunteers
- 119 people
- Sponsor
- Auspex Pharmaceuticals, Inc.
Tuberous Sclerosis Complex, Seizures
An Open-label Extension Trial of Cannabidiol (GWP42003-P, CBD) for Seizures in Tuberous Sclerosis Complex (GWPCARE6)
This trial consists of 2 parts: a double-blinded phase and an open-label extension phase. The open-label extension phase only will be described in this record. All participants will receive the same dose of GWP42003-P.
- Trial name
- NCT02544750
- Testing
- GWP42003-P
- Where
- United States
- Volunteers
- 199 people
- Sponsor
- Jazz Pharmaceuticals
Chorea, Huntington
Efficacy, Safety, and Tolerability of Valbenazine for the Treatment of Chorea Associated With Huntington Disease
This is a Phase 3, randomized, double-blind, placebo-controlled study to evaluate the efficacy, safety, and tolerability of valbenazine to treat chorea in participants with Huntington disease.
- Trial name
- KINECT-HD (NCT04102579)
- Testing
- Valbenazine
- Where
- 46 sites in United States, Canada
- Volunteers
- 128 people
- Sponsor
- Neurocrine Biosciences
Alpha-1 Antitrypsin Deficiency
A Study of ARC-AAT in Healthy Volunteer Subjects and Patients With Alpha-1 Antitrypsin Deficiency (AATD)
The purpose of the study is to determine the safety and tolerability of escalating doses of ARC-AAT and to evaluate the pharmacokinetics of ARC-AAT and the effect of ARC-AAT on circulating levels of alpha-1 antitrypsin (AAT).
- Trial name
- NCT02363946
- Testing
- ARC-AAT Injection, Diphenhydramine
- Where
- 4 sites in Australia, Germany and 2 more
- Volunteers
- 65 people, healthy volunteers welcome
- Sponsor
- Arrowhead Pharmaceuticals
Asymptomatic Hyperuricemia
A Study to Assess the Effect of Intensive Uric Acid (UA) Lowering Therapy With RDEA3170, Febuxostat, Dapagliflozin on Urinary Excretion of UA
This is a randomized, placebo controlled, double-blind, 2-way crossover study conducted on asymptomatic hyperuricemic patients. The core study consists of screening period, 2 treatment periods (verinurad + febuxostat +…
- Trial name
- NCT03316131
- Testing
- Verinurad, Febuxostat, Dapagliflozin
- Where
- 2 sites in United States
- Volunteers
- 36 people
- Sponsor
- AstraZeneca
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)
Genetic Predisposition
Care Plans for Cancer Predisposition
Develop and evaluate acceptability, feasibility, and preliminary efficacy of digital care plan and accompanying text message reminders for children and adolescents with a known Cancer Predisposition Syndromes (CPS).
- Trial name
- NCT05736497
- Testing
- Digital Care Plans
- Where
- United States
- Volunteers
- 177 people
- Sponsor
- Children's Hospital of Philadelphia
Stage I Chronic Lymphocytic Leukemia, Stage II Chronic Lymphocytic Leukemia
Fludarabine and Rituximab With or Without Lenalidomide or Cyclophosphamide in Treating Patients With Symptomatic Chronic Lymphocytic Leukemia
This randomized phase II trial studies how well fludarabine (fludarabine phosphate) and rituximab with or without lenalidomide or cyclophosphamide work in treating patients with symptomatic chronic lymphocytic leukemia.
- Conditions
- Stage I Chronic Lymphocytic Leukemia, Stage II Chronic Lymphocytic Leukemia, Stage III Chronic Lymphocytic Leukemia, Stage IV Chronic Lymphocytic Leukemia
- Trial name
- NCT00602459
- Testing
- Cyclophosphamide, Fludarabine Phosphate, Laboratory Biomarker Analysis
- Where
- 364 sites in United States, Canada
- Volunteers
- 418 people
- Sponsor
- National Cancer Institute (NCI)
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
Tourette's Disorder, Tic Disorder
Safety and Tolerability of Once-daily Oral Aripiprazole in Children and Adolescents With Tourette's Disorder
The goal of the current trial is to determine safety of Once-daily aripiprazole in reducing Total Tic Severity in children and adolescents with Tourette's Disorder.
- Trial name
- NCT01727713
- Testing
- Aripiprazole
- Where
- 33 sites in United States, Canada and 2 more
- Volunteers
- 110 people
- Sponsor
- Otsuka Pharmaceutical Development & Commercialization, Inc.
Childhood Choroid Plexus Tumor, Childhood Medulloblastoma
Study of Fixed vs. Flexible Filgrastim to Accelerate Bone Marrow Recovery After Chemotherapy in Children With Cancer
This randomized phase III trial studies flexible administration of filgrastim after combination chemotherapy to see how well it works compared to fixed administration of filgrastim in decreasing side effects of chemotherapy in…
- Conditions
- Childhood Choroid Plexus Tumor, Childhood Medulloblastoma, Childhood Pineoblastoma, Childhood Soft Tissue Sarcoma
- Trial name
- NCT01987596
- Testing
- filgrastim
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Barbara Ann Karmanos Cancer Institute
Mucopolysaccharidosis IIIB
Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB)
Study to evaluate the safety and tolerability of intravenous (IV) administration of SBC-103 in participants with mucopolysaccharidosis III, type B (MPS IIIB, Sanfilippo B) with evaluable signs or symptoms of developmental delay.
- Trial name
- NCT02324049
- Testing
- SBC-103
- Where
- 4 sites in United States, Spain and 1 more
- Volunteers
- 11 people
- Sponsor
- Alexion Pharmaceuticals, Inc.
Alpha 1-Antitrypsin Deficiency
Study of Fazirsiran (TAK-999, ARO-AAT) in Patients With Alpha-1 Antitrypsin Deficiency Associated Liver Disease (AATD)
The purpose of this study is to evaluate the the safety and efficacy of the investigational product, fazirsiran (TAK-999, ARO-AAT), administered subcutaneously to patients with alpha-1 antitrypsin deficiency associated liver…
- Trial name
- NCT03946449
- Testing
- ARO-AAT
- Where
- 4 sites in Austria, Germany and 1 more
- Volunteers
- 16 people
- Sponsor
- Arrowhead Pharmaceuticals
Alpha1-proteinase Inhibitor Deficiency, Emphysema
Zemaira in Subjects With Emphysema Due to Alpha1-Proteinase Inhibitor Deficiency
This is a randomized, placebo-controlled, double-blind, multicenter phase III/IV study to compare the efficacy and safety of Zemaira® with placebo in subjects with emphysema due to alpha1-proteinase inhibitor deficiency.
- Trial name
- NCT00261833
- Testing
- Alpha1-proteinase inhibitor
- Where
- 28 sites in United States, Australia and 11 more
- Volunteers
- 180 people
- Sponsor
- CSL Behring
Seizures
Cannabidiol Oral Solution as an Adjunctive Treatment for Treatment-resistant Seizure Disorder
This is a multicenter, open-label trial to assess the long-term safety and efficacy of Cannabidiol Oral Solution as adjunctive therapy for pediatric participants with treatment-resistant seizure disorders, including…
- Trial name
- NCT02318602
- Testing
- Cannabidiol Oral Solution
- Where
- 11 sites in United States
- Volunteers
- 52 people
- Sponsor
- INSYS Therapeutics Inc