Clinical trials: Genetic Conditions
Huntington's Disease
Open Label Extension Study To Investigate Long Term Safety, Tolerability And Efficacy Of Pf-02545920 In Subjects With Huntington's Disease Who Completed Study A8241021
This study is a 12 month open label extension study of PF-02545920 20 mg dosed BID following study A8241021 in subjects with HD. Primary endpoints will be to assess long-term safety and tolerability of 20 mg BID of PF-02545920.
- Trial name
- NCT02342548
- Testing
- 20 mg BID of PF-02545920
- Where
- 50 sites in United States, Canada and 3 more
- Volunteers
- 188 people
- Sponsor
- Pfizer
Chronic Myelomonocytic Leukemia, Chronic Myelomonocytic Leukemia-1
Azacitidine With or Without Lenalidomide or Vorinostat in Treating Patients With Higher-Risk Myelodysplastic Syndromes or Chronic Myelomonocytic Leukemia
This randomized phase II/III trial studies how well azacitidine works with or without lenalidomide or vorinostat in treating patients with higher-risk myelodysplastic syndromes or chronic myelomonocytic leukemia.
- Conditions
- Chronic Myelomonocytic Leukemia, Chronic Myelomonocytic Leukemia-1, Chronic Myelomonocytic Leukemia-2, Myelodysplastic Syndrome
- Trial name
- NCT01522976
- Testing
- Azacitidine, Laboratory Biomarker Analysis, Lenalidomide
- Where
- 294 sites in United States, Canada
- Volunteers
- 282 people
- Sponsor
- National Cancer Institute (NCI)
Cryopyrin-Associated Periodic Syndrome
Study of ATI-450 in Patients With Cryopyrin-Associated Periodic Syndrome (CAPS)
This is a Phase 2 study to investigate the safety and efficacy of ATI-450 for the Maintenance of Remission in Patients with Cryopyrin-Associated Periodic Syndrome (CAPS) Previously Managed with Anti-IL-1 Therapy.
- Trial name
- NCT04524858
- Testing
- ATI-450
- Where
- 2 sites in United States
- Volunteers
- 1 people
- Sponsor
- Aclaris Therapeutics, Inc.
Retinitis Pigmentosa, Visual Impairment
Environmental Localization Mapping and Guidance for Visual Prosthesis Users
This study is driven by the hypothesis that independent navigation by blind users of visual prosthetic devices can be greatly aided by use of an autonomous navigational aid that provides information about the environment and…
- Conditions
- Retinitis Pigmentosa, Visual Impairment, Visual Prosthesis
- Trial name
- SLAM (NCT04359108)
- Testing
- Navigation system mode: Argus Vision, Navigation system mode: Depth Vision, Navigation system mode: Depth Vision with Haptic / Audio
- Where
- 2 sites in United States
- Volunteers
- 26 people, healthy volunteers welcome
- Sponsor
- Johns Hopkins University
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
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
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)
Albinism, Inborn Errors of Metabolism
Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is an inherited disease that results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal…
- Conditions
- Albinism, Inborn Errors of Metabolism, Oculocutaneous Albinism, Platelet Storage Pool Deficiency
- Trial name
- NCT00001596
- Testing
- Pirfenidone
- Where
- United States
- Volunteers
- 35 people
- Sponsor
- William Gahl, M.D.
Anemia, Sickle Cell
Siplizumab for Sickle Cell Disease Transplant
The purpose of this study is to find out whether siplizumab is safe and effective for patients with SCD undergoing an allogeneic transplant and to prevent development of Graft versus Host Disease (GVHD) and graft failure.
- Trial name
- CD2 SCD (NCT06078696)
- Testing
- Siplizumab, Exchange Transfusion, Total Body Irradiation
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Columbia University
Alpha-1-antitrypsin Deficiency, Liver Cirrhosis
Carbamazepine in Severe Liver Disease Due to Alpha-1 Antitrypsin Deficiency
The primary objective is to determine if the medication Carbamazepine, can be used as a therapy for patients with severe liver disease due to Alpha-1-Antitrypsin Deficiency .
- Trial name
- CBZ (NCT01379469)
- Testing
- Drug-Carbamazepine (Tegretol XR)
- Where
- 3 sites in United States
- Volunteers
- 20 people
- Sponsor
- Washington University School of Medicine
Cystic Fibrosis
Effects of an Antioxidant-Enriched Multivitamin Supplement on Inflammation and Oxidative Stress in Cystic Fibrosis
The purpose of this study will be to evaluate the effects of a modified formulation of AquADEKs (AquADEKs-2) on markers of inflammation, antioxidant levels and oxidative stress.
- Trial name
- AquADEKs-2 (NCT01859390)
- Testing
- AquADEKs-2, control multivitamin
- Where
- 15 sites in United States
- Volunteers
- 73 people
- Sponsor
- University of Colorado, Denver
Urea Cycle Disorders
To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)
This was an open-label, long-term safety study of HPN-100 (RAVICTI; glycerol phenylbutyrate) in participants with a urea cycle disorder (UCD) who completed the safety extensions of HPN-100-005 (NCT00947544; HPN-100-005SE)…
- Trial name
- NCT01257737
- Testing
- HPN-100
- Where
- 16 sites in United States, Canada
- Volunteers
- 88 people
- Sponsor
- Amgen
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
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
Huntington Disease, Chorea
Atomoxetine and Huntington's Disease
The purpose of this research study is to evaluate the effect of atomoxetine (also known as Strattera) compared to placebo (inactive substance) on daily activities such as attention and focus, thinking ability and muscle movements…
- Trial name
- NCT00368849
- Testing
- atomoxetine
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Iowa
Atopic Dermatitis
A Study to Assess the Safety and Efficacy of ZPL389 With TCS/TCI in Atopic Dermatitis Patients
This extension study (CZPL389A2203E1) was designed as a 2-year (100 weeks) extension to the core study (CZPL389A2203/ NCT03517566) which is disclosed separately.
- Trial name
- ZESTExt (NCT03948334)
- Testing
- ZPL389 30mg, ZPL389 50mg, TCS and/or TCI
- Where
- 48 sites in United States, Belgium and 11 more
- Volunteers
- 123 people
- Sponsor
- Novartis Pharmaceuticals
Metastatic Breast Cancer
A Phase III Study of BKM120 With Fulvestrant in Patients With HR+,HER2-, AI Treated, Locally Advanced or Metastatic Breast Cancer Who Progressed on or After mTORi
This study was a multicenter, randomized, double-blind, placebo-controlled Phase III study to determine the efficacy and safety of treatment with Buparlisib plus Fulvestrant vs.
- Trial name
- BELLE-3 (NCT01633060)
- Testing
- Fulvestrant, BKM120
- Where
- 197 sites in United States, Argentina and 20 more
- Volunteers
- 432 people
- Sponsor
- Novartis Pharmaceuticals
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
Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia
Alemtuzumab, Fludarabine, and Busulfan Followed By Donor Stem Cell Transplant in Treating Young Patients With Hematologic Disorders
RATIONALE: Monoclonal antibodies, such as alemtuzumab, can block cancer growth in different ways. Some block the ability of cancer cells to grow and spread.
- Conditions
- Congenital Amegakaryocytic Thrombocytopenia, Diamond-blackfan Anemia, Leukemia, Myelodysplastic Syndromes
- Trial name
- NCT00301834
- Testing
- alemtuzumab, busulfan, cyclosporine
- Where
- 2 sites in United States
- Volunteers
- 35 people
- Sponsor
- University of California, San Francisco
Tourette Syndrome, Tic Disorder, Chronic Motor or Vocal
Open-label MNS for Tourette Syndrome
A recent report (Morera Maiquez et al 2020) described reduced tic severity in people with Tourette syndrome during 1-minute epochs of median nerve stimulation (MNS) at 10 Hz.
- Trial name
- NCT05016765
- Testing
- Active, self-directed electrical stimulation of the median nerve
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- Washington University School of Medicine