Clinical trials: Genetic Conditions
Arthritis, Gouty
Efficacy and Safety of a Single Dose of Canakinumab (ACZ885) in Hospitalized Patients With Acute Gout
This is an exploratory proof-of-concept study to evaluate the safety and efficacy of canakinumab (ACZ885) for inflammation and pain associated with acute gouty arthritis.
- Trial name
- NCT00663169
- Testing
- canakinumab, dexamethasone
- Where
- 4 sites in United States, Switzerland and 1 more
- Volunteers
- 6 people
- Sponsor
- Novartis
Epidermolysis Bullosa, Pruritus
Neurokinin-1 Receptor Antagonist for the Treatment of Itch in EB Patients
Our goal is to determine whether daily oral administration of VPD-737 (5 mg) is effective and safe in treating moderate to severe pruritus in patients with Epidermolysis Bullosa (EB).
- Trial name
- NCT02654483
- Testing
- VPD-737
- Where
- United States
- Volunteers
- 14 people
- Sponsor
- Jean Yuh Tang
Alpha-1 Antitrypsin Deficiency (AATD)
A Phase 1 Research Study to Evaluate Safety, Tolerability, and Pharmacokinetics of WVE-006 in Healthy Participants With Wild-type AAT Expression (RestorAATion-1)
This study is the first study in the RestorAATion clinical program. The purpose of this first-in human (FIH), double-blind, randomized, placebo-controlled, single ascending dose (SAD) and multiple-dose Phase 1 study is to assess…
- Trial name
- RestorAATion-1 (NCT06186492)
- Testing
- WVE-006
- Where
- United Kingdom
- Volunteers
- 47 people, healthy volunteers welcome
- Sponsor
- Wave Life Sciences USA, Inc.
Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis
Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome
This study will examine whether five drugs (pravastatin, Losartan, Zileuton, N-acetylcysteine and erythromycin) used together can slow the course of pulmonary fibrosis (scarring of the lung tissue) in patients with…
- Conditions
- Hermansky-Pudlak Syndrome (HPS), Pulmonary Fibrosis, Oculocutaneous Albinism, Platelet Storage Pool Deficiency
- Trial name
- NCT00467831
- Testing
- Losartan, Zileuton, N-Acetylcysteine
- Where
- United States
- Volunteers
- 3 people
- Sponsor
- National Human Genome Research Institute (NHGRI)
Ototoxicity
SPI-1005 for Prevention and Treatment of Tobramycin Induced Ototoxicity
The primary objective of this study is to determine the safety and efficacy of SPI-1005 treatment in CF patients with active pulmonary exacerbation that are receiving an IV course of tobramycin, determined by comparing hearing…
- Trial name
- NCT02819856
- Testing
- SPI-1005 Ebselen 200mg Capsule x1, SPI-1005 Ebselen 200mg Capsule x2, SPI-1005 Ebselen 200mg Capsule x3
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- Sound Pharmaceuticals, Incorporated
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
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
Chronic Granulomatous Disease
Haploidentical Transplant for People With Chronic Granulomatous Disease Using Post Transplant Cyclophosphamide
Background: Chronic Granulomatous Disease (CGD) causes immune system problems. Treatment is usually a bone marrow transplant from a fully matched donor.
- Trial name
- NCT02282904
- Testing
- Sirolimus, Donor peripheral blood stem cells., Cyclophosphamide post transplant
- Where
- United States
- Volunteers
- 7 people
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Down Syndrome, Intellectual Disability
Down Syndrome Memantine Follow-up Study
The purpose of this research study is to learn if the medication Memantine Hydrochloride (the study medication) can help adolescents and young adults with Down syndrome. Dr.
- Trial name
- NCT02304302
- Testing
- Memantine
- Where
- 2 sites in United States, Brazil
- Volunteers
- 160 people, healthy volunteers welcome
- Sponsor
- University Hospitals Cleveland Medical Center
Angiofibroma of Face, Tuberous Sclerosis
Topical Sirolimus Ointment for Cutaneous Angiofibromas in Subjects With Tuberous Sclerosis Complex
The objective of this study is to evaluate the safety and efficacy of sirolimus (0.2% and 0.4% formulations) and its vehicle when applied topically once daily for 12 weeks for the treatment of cutaneous angiofibromas in pediatric…
- Trial name
- NCT03363763
- Testing
- Sirolimus 0.2%, Sirolimus 0.4%
- Where
- 8 sites in United States, China
- Volunteers
- 24 people
- Sponsor
- Aucta Pharmaceuticals, Inc
Diabetes Mellitus, Type 2
Study to Understand the Genetics of the Acute Response to Metformin and Glipizide in Humans
The SUGAR-MGH investigators are studying the influence of inherited gene variants on the response to two commonly prescribed type 2 diabetes medications, metformin and glipizide.
- Trial name
- SUGAR-MGH (NCT01762046)
- Testing
- Glipizide, Metformin, Oral Glucose Tolerance Test
- Where
- 3 sites in United States
- Volunteers
- 1,033 people, healthy volunteers welcome
- Sponsor
- Massachusetts General Hospital
Language Development Disorders, Down Syndrome
Strategies for Teaching Verbs
This study is designed to evaluate whether children with Down syndrome and children with typical development exhibit different levels of accuracy demonstrating novel verbs taught under three conditions: semantic cues (perform…
- Conditions
- Language Development Disorders, Down Syndrome, Child Language
- Trial name
- NCT03441685
- Testing
- Semantic cues (perform action), syntactic cues (sentence frame), or combined semantic and syntactic cues
- Where
- United States
- Volunteers
- 44 people, healthy volunteers welcome
- Sponsor
- Vanderbilt University Medical Center
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)
Atopic Dermatitis
Efficacy of Fluocinonide Cream 0.1% (Vanos(R)) in Reducing Itch in Subjects With Atopic Dermatitis
The purpose of this study is to assess the efficacy of short-term treatment with fluocinonide cream 0.1% (Vanos®) in the treatment of atopic dermatitis (AD).
- Trial name
- NCT01469767
- Testing
- Fluocinonide cream
- Where
- United States
- Volunteers
- 10 people
- Sponsor
- Wake Forest University
Sickle Cell Disease
Study of Propranolol as Anti-Adhesive Therapy in Sickle Cell Disease (SCD)
An open label, prospective, randomized cross-over phase II study in up to 60 sickle cell patients who are either homozygous for Hb S or have HbSB0 thalassemia.
- Trial name
- NCT01077921
- Testing
- Propranolol
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Laura M. De Castro, MD
Familial Adenomatous Polyposis
Lyophilized Black Raspberries in Adults With Familial Adenomatous Polyposis (FAP)
This is a 36 week dietary intervention pilot study to evaluate the effects of lyophilized black raspberries on rectal polyp burden and biomarkers in subjects with FAP.
- Trial name
- NCT00770991
- Testing
- Black raspberry (BRB) Slurry, Black Raspberry (BRB) Suppositories
- Where
- United States
- Volunteers
- 34 people
- Sponsor
- The Cleveland Clinic
Onychomycosis of Toenails
Efficacy and Safety Evaluation of AN2690 Topical Solution to Treat Onychomycosis of the Toenail
The purpose of this study is to determine whether AN2690 topical solution is a safe and effective treatment for onychomycosis of the toenail.
- Trial name
- NCT01270971
- Testing
- AN2690 Topical Solution, 5%, Solution Vehicle
- Where
- 27 sites in United States
- Volunteers
- 594 people
- Sponsor
- Pfizer
Homozygous Familial Hypercholesterolemia (HoFH)
A Gene Therapy Study for Homozygous Familial Hypercholesterolemia (HoFH)
This first-in-human study is intended to evaluate the safety and preliminary effectiveness of AAV (Adeno-associated virus)-based liver-directed gene therapy in the treatment of adults with Homozygous Familial Hypercholesterolemia…
- Trial name
- NCT02651675
- Testing
- AAV directed hLDLR gene therapy
- Where
- 9 sites in United States, Canada and 2 more
- Volunteers
- 9 people
- Sponsor
- REGENXBIO Inc.
Chronic Myeloid Leukemia
Study Evaluating SKI-606 (Bosutinib) In Philadelphia Chromosome Positive Leukemias
This is an open-label, continuous daily dosing, two-part safety and efficacy study of SKI-606 (bosutinib) in Philadelphia chromosome positive leukemias (Ph+).
- Trial name
- NCT00261846
- Testing
- Bosutinib
- Where
- 111 sites in United States, Argentina and 25 more
- Volunteers
- 571 people
- Sponsor
- Pfizer
Bardet-Biedl Syndrome, POMC Deficiency Obesity
Setmelanotide in Pediatric Participants With Rare Genetic Diseases of Obesity
This is a phase 3 open-label, clinical study to evaluate the efficacy, safety and tolerability of setmelanotide over 1 year of treatment, in pediatric participants aged 2 to <6 years with obesity due to either biallelic variants…
- Conditions
- Bardet-Biedl Syndrome, POMC Deficiency Obesity, PCSK1 Deficiency Obesity, LEPR Deficiency Obesity
- Trial name
- NCT04966741
- Testing
- Setmelanotide
- Where
- 6 sites in United States, Australia and 2 more
- Volunteers
- 12 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.