Clinical trials: Genetic Conditions
Genetic Predisposition
Genetic Counseling Service Delivery and Outcomes in Diverse and Underserved Populations
This 2-arm prospective, randomized, controlled clinical trial compared outcomes of telephone genetic counseling (intervention) versus in-person genetic counseling (control) in an underserved, multilingual patient population…
- Trial name
- NCT06212310
- Where
- United States
- Volunteers
- 419 people
- Sponsor
- University of Texas Southwestern Medical Center
Hypertrophic Cardiomyopathy
Effect of Eleclazine (GS-6615) on Exercise Capacity in Subjects With Symptomatic Hypertrophic Cardiomyopathy
The primary objective of this study was to evaluate the effect of eleclazine (GS-6615) on exercise capacity as measured by Peak oxygen uptake (VO2) achieved during cardiopulmonary exercise testing (CPET), in participants with…
- Trial name
- LIBERTY-HCM (NCT02291237)
- Testing
- Eleclazine
- Where
- 46 sites in United States, Australia and 6 more
- Volunteers
- 172 people
- Sponsor
- Gilead Sciences
Chronic Kidney Disease, Hypertension
Genetic Testing to Understand and Address Renal Disease Disparities Across the United States
GUARDD-US is a prospective, multicenter, unblinded, two arm randomized pragmatic clinical trial. Participants will be randomized in a 1:1 ratio to immediate APOL1 gene testing and return of results (ROR) to participant and…
- Trial name
- GUARDD-US (NCT04191824)
- Testing
- Timing of return of results
- Where
- 14 sites in United States
- Volunteers
- 6,789 people
- Sponsor
- Duke University
Cystic Fibrosis
Study of Ivacaftor in Cystic Fibrosis Subjects Aged 6 to 11 Years With the G551D Mutation
The purpose of this study was to evaluate the efficacy and safety of ivacaftor in subjects with cystic fibrosis aged 6 to 11 years who have the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR)…
- Trial name
- ENVISION (NCT00909727)
- Testing
- Ivacaftor
- Where
- 29 sites in United States, Australia and 5 more
- Volunteers
- 52 people
- Sponsor
- Vertex Pharmaceuticals Incorporated
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
Treatment-resistant Pruritus Associated With Atopic Dermatitis
Proof of Concept of VLY-686 in Subjects With Treatment-Resistant Pruritus Associated With Atopic Dermatitis
This is randomized, double-blind, placebo-controlled study to test whether VLY-686 can reduce chronic pruritus in subjects with treatment-resistant pruritus associated with atopic dermatitis in comparison with placebo.
- Trial name
- NCT02004041
- Testing
- VLY-686
- Where
- 5 sites in Germany
- Volunteers
- 69 people
- Sponsor
- Vanda Pharmaceuticals
Tourette Syndrome
Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission
A joint NIH -Tourette Syndrome Association Conference has emphasized the critical need for the testing and development of new pharmacotherapy for tic suppression in Tourette syndrome (TS).
- Trial name
- NCT01018056
- Testing
- D-serine, Riluzole
- Where
- United States
- Volunteers
- 39 people
- Sponsor
- Johns Hopkins University
Pruritus, Prurigo Nodularis
Study of the Long Term Safety of Serlopitant for the Treatment of Pruritus (Itch)
Study of the long term safety of serlopitant for the treatment of pruritus in adults.
- Conditions
- Pruritus, Prurigo Nodularis, Atopic Dermatitis, Psoriasis
- Trial name
- NCT03540160
- Testing
- 5 mg Serlopitant Tablets
- Where
- 85 sites in United States, Austria and 2 more
- Volunteers
- 558 people
- Sponsor
- Vyne Therapeutics Inc.
Mucopolysaccharidosis Type 7
An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
UX003-CL201 is an open-label Phase 1/2 study to assess the safety, efficacy, and dose of UX003 in MPS 7 patients via intravenous (IV) administration every other week (QOW) for 36 weeks with up to an additional 36 weeks from the…
- Trial name
- NCT01856218
- Testing
- UX003
- Where
- United Kingdom
- Volunteers
- 3 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Prader-Willi Syndrome, Hyperphagia
Oxytocin vs. Placebo for the Treatment Hyperphagia in Children and Adolescents With Prader-Willi Syndrome
The investigators propose a randomized double-blind 8 week treatment trial of intranasal oxytocin (IN-OXT) vs. placebo in 24 subjects aged 5 to 18 years with PWS in order to assess IN-OXT's affect on (1) Eating behaviors (2)…
- Trial name
- OXT-PWS (NCT02629991)
- Testing
- Intranasal Oxytocin (IN-OXT)
- Where
- United States
- Volunteers
- 23 people
- Sponsor
- Montefiore Medical Center
CML in Chronic Phase
Nilotinib in Newly Diagnosed Adult Philadelphia Chromosome & /or BCR-ABL Positive Chronic Myeloid Leukaemia in Chronic Phase
This study will assess the efficacy and safety of nilotinib in adult patients with newly diagnosed Philadelphia chromosome positive/BCR-ABL positive chronic myeloid leukaemia in chronic phase.
- Trial name
- 'MACS1252 (NCT01061177)
- Testing
- Nilotinib
- Where
- 320 sites in Austria, Belgium and 24 more
- Volunteers
- 1,090 people
- Sponsor
- Novartis Pharmaceuticals
Gout
Validation Study of Physical Measurement of Tophi
The purpose of this study is to determine the inter- and intra-rater reproducibility of direct physical measurement of tophus nodules in subjects with gout.
- Trial name
- NCT00175006
- Testing
- Measurement of Tophi to validate procedure
- Volunteers
- 13 people
- Sponsor
- Takeda
Benign Breast Disease, Fibrocystic Disease of Breast
Effects of Tamoxifen in Premenopausal Women With Benign Breast Disease Not at High-Risk of Developing Breast Cancer
The purpose of the study is to determine the efficacy and relapse rate of low dose, short duration treatment with tamoxifen in benign breast disease amenable to hormonal therapy with respect to etiology and estrogen receptor…
- Conditions
- Benign Breast Disease, Fibrocystic Disease of Breast, Fibroadenoma, Mastalgia
- Trial name
- NCT00999921
- Testing
- Tamoxifen, Evening Primrose Oil
- Where
- India
- Volunteers
- 256 people
- Sponsor
- Medical College and Hospital Kolkata
Alpha 1-Antitrypsin Deficiency
Efficacy and Safety Study of Augmentation Therapy With ARALAST Fraction IV-1 (Human Alpha 1 - Proteinase Inhibitor)
The purpose of this study is to evaluate the effects of weekly augmentation therapy with ARALAST Fraction IV-1 (Fr IV-1) on epithelial lining fluid (ELF) alpha 1-proteinase inhibitor levels and other ELF analytes and to assess…
- Trial name
- NCT00396006
- Testing
- Alpha1-Proteinase Inhibitor
- Where
- 5 sites in Australia, New Zealand
- Volunteers
- 21 people
- Sponsor
- Baxalta now part of Shire
Fabry Disease
Open Label Extension Study of 1 mg/kg Pegunigalsidase Alfa Every 2 Weeks in Patients With Fabry Disease
The objective of CLI-06657AA1-04 (formerly PB-102-F60) was to evaluate the long-term safety, tolerability, and efficacy parameters of 1 mg/kg pegunigalsidase alfa administered intravenously every other week in adult Fabry…
- Trial name
- NCT03566017
- Testing
- pegunigalsidase alfa
- Where
- 30 sites in United States, Australia and 11 more
- Volunteers
- 97 people
- Sponsor
- Chiesi Farmaceutici S.p.A.
Emphysema, Chronic Obstructive Pulmonary Disease (COPD)
Ex-vivo Perfusion and Ventilation of Lungs Recovered From Non-Heart-Beating Donors to Assess Transplant Suitability
The purpose of this research study is to learn about the safety of transplanting lungs obtained from non-heart-beating donors (NHBDs) that have been ventilated (attached to a breathing machine or ventilator to deliver oxygen) and…
- Conditions
- Emphysema, Chronic Obstructive Pulmonary Disease (COPD), Cystic Fibrosis, Pulmonary Fibrosis
- Trial name
- NCT01615484
- Testing
- Transplantation of lungs obtained from Non-Heart-Beating Donors (NHBDs) after ex-vivo perfusion w/ STEEN Solution™, STEEN Solution™
- Where
- 2 sites in United States
- Volunteers
- 24 people
- Sponsor
- University of North Carolina, Chapel Hill
Cystinuria, Nephrolithiasis, Calcium Oxalate
Use of an Herbal Preparation to Prevent and Dissolve Kidney Stones
We will investigate the safety and effectiveness of a mixture of 9 east Indian herbs known as Cystone regarding their ability to dissolve existing kidney stones and prevent formation of new ones.
- Trial name
- NCT00381849
- Testing
- Cystone
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Mayo Clinic
Alpha 1-Antitrypsin Deficiency
Safety Dose Finding Study of ADVM-043 Gene Therapy to Treat Alpha-1 Antitrypsin (A1AT) Deficiency
The ADVANCE study is being conducted by Adverum Biotechnologies, Inc. as an open-label, multicenter, dose-escalation study in order to assess the safety and protein expression of ADVM-043 following a single intravenous or…
- Trial name
- ADVANCE (NCT02168686)
- Testing
- ADVM-043
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- Adverum Biotechnologies, Inc.
Sickle Cell Disease
Pain Management in Children and Young Adults With Sickle Cell Disease
This is a phase II double-blind placebo-controlled clinical trial evaluating the effect of gabapentin when added to standard pain management for patients with sickle cell disease experiencing acute pain crisis in the ambulatory…
- Trial name
- NCT01954927
- Testing
- Gabapentin
- Where
- United States
- Volunteers
- 90 people
- Sponsor
- St. Jude Children's Research Hospital
Neurofibromatosis Type 1, Precancerous Condition
Fludeoxyglucose F 18 Positron Emission Tomography and Magnetic Resonance Perfusion Imaging in Patients With Neurofibromatosis 1 and Plexiform Neurofibroma
RATIONALE: New imaging procedures such as fludeoxyglucose F 18 positron emission tomography (FDG-PET) and magnetic resonance (MR) perfusion imaging may improve the ability to detect disease progression, help doctors predict a…
- Trial name
- NCT00060008
- Testing
- fludeoxyglucose F 18, gadopentetate dimeglumine
- Where
- 2 sites in United States
- Volunteers
- 18 people
- Sponsor
- Children's Hospital of Philadelphia