Clinical trials: Genetic Conditions
Hypertension, Hyperhomocysteinemia
CSPPT- Chronic Kidney Diseases Study
The purpose of this trial is to confirm that enalapril maleate and folic acid tablets is more effective in preventing renal function decline among the patients with primary hypertension when compared to enalapril maleate.
- Trial name
- CSPPT-CKD (NCT01871740)
- Testing
- Enalapril maleate and folic acid tablets, Enalapril maleate
- Where
- 2 sites in China
- Sponsor
- Shenzhen Ausa Pharmed Co.,Ltd
Renal Impairment
Effect of Febuxostat on Renal Function in Patients With Gout and Moderate to Severe Renal Impairment
The purpose of this study is to determine the effect of febuxostat, once daily (QD) or twice daily (BID), on renal function in gout patients with elevated serum urate levels and who have moderate to severe renal impairment.
- Trial name
- NCT01082640
- Testing
- Febuxostat
- Where
- 58 sites in United States
- Volunteers
- 96 people
- Sponsor
- Takeda
Achondroplasia
Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH)
This is a Phase 2, multicenter, randomized, placebo-controlled study to evaluate the safety and efficacy of infigratinib in participants < 3 years old with ACH.
- Trial name
- NCT07169279
- Testing
- Infigratinib is provided as a single dose of minitablets for oral administration, Infigratinib is provided as sprinkle capsules for daily oral administration
- Where
- 12 sites in United States, Australia and 5 more
- Volunteers
- 77 people
- Sponsor
- QED Therapeutics, a BridgeBio company
Atopic Dermatitis, Dermatology
A Prospective, Observational Study of Clinician and Patient-reported Outcomes in Patients With Dermatological Conditions
The primary goal of the study is to collect standardized patient and clinician reported outcome measures for patients diagnosed with a range of dermatological conditions in an academic clinical practice setting.
- Conditions
- Atopic Dermatitis, Dermatology, Vitiligo, Alopecia Areata
- Trial name
- ClinPRO-DERM (NCT05084417)
- Testing
- N/A This is an observational study
- Where
- United States
- Volunteers
- 10,000 people
- Sponsor
- OM1, Inc.
Alpha 1-Antitrypsin Deficiency
Phase III, Efficacy and Safety of "Kamada-AAT for Inhalation"
The goal of this clinical trial is to learn if AAT for inhalation, at a dose of 80 mg/day can slow the progression of lung disease in people who have lung disease caused by severe genetic deficiency in Alpha 1 Antitrypsin (AATD).
- Trial name
- InnovAATe (NCT04204252)
- Testing
- Alpha 1-Antitrypsin
- Where
- 9 sites in Belgium, Finland and 4 more
- Volunteers
- 98 people
- Sponsor
- Kamada, Ltd.
Tumor, Tumor, Solid
Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1)
A Phase 2 multi-center open-label basket trial of nab-sirolimus for adult and adolescent patients with malignant solid tumors harboring pathogenic inactivating alterations in TSC1 or TSC2 genes
- Conditions
- Tumor, Tumor, Solid, Metastasis, Metastatic Cancer
- Trial name
- NCT05103358
- Testing
- nab-sirolimus
- Where
- 166 sites in United States, Puerto Rico and 1 more
- Volunteers
- 128 people
- Sponsor
- Aadi Bioscience, Inc.
Choroideremia
Natural Disease Progression in Participants With Choroideremia
The primary objective of this study is to quantify disease progression measured by best corrected visual acuity (BCVA) in the real-world setting among Choroideremia (CHM) participants.
- Trial name
- NCT04795206
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 1,178 people
- Sponsor
- Biogen
Meulengracht Syndrome, Hyperbilirubinemia
Biomarker for Gilbert Disease (BioGilbert)
Development of a new MS-based biomarker for the early and sensitive diagnosis of Gilbert disease from blood
- Conditions
- Meulengracht Syndrome, Hyperbilirubinemia, Unconjugated Benign Bilirubinemia
- Trial name
- BioGilbert (NCT02712138)
- Where
- 4 sites in Egypt, India and 1 more
- Sponsor
- CENTOGENE GmbH Rostock
Atrial Fibrillation, Deep Vein Thrombosis
Association Between Genetic Variant Scores and Warfarin Effect
Study objective is to determine whether there is an association between genetic variant risk scores and clinical outcomes (percent time in therapeutic range, time to reach therapeutic international normalized ratio (INR), INR ≥…
- Conditions
- Atrial Fibrillation, Deep Vein Thrombosis, Intracardiac Thrombus, Pulmonary Embolism
- Trial name
- AWARE1 (NCT03894878)
- Where
- United States
- Volunteers
- 200 people
- Sponsor
- Cipherome, Inc.
Leber Congenital Amaurosis 10, Blindness
A Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
The purpose of this double-masked, randomized, controlled, multiple-dose study is to evaluate the efficacy, safety, tolerability and systemic exposure of sepofarsen (QR-110) administered via intravitreal injection in subjects…
- Conditions
- Leber Congenital Amaurosis 10, Blindness, Leber Congenital Amaurosis, Vision Disorders
- Trial name
- ILLUMINATE (NCT03913143)
- Testing
- sepofarsen
- Where
- 14 sites in United States, Belgium and 7 more
- Volunteers
- 36 people
- Sponsor
- ProQR Therapeutics
Hemophilia
Hemophilia Mobile App Usability Pilot
The purpose of this study is to evaluate the utility and user experience of a smart phone app for people with medical conditions, used in conjunction with an ActiGraph wearable device and a connected scale.
- Trial name
- NCT03168685
- Testing
- SureSource Engage application
- Where
- United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Healthcare Innovation Technology Lab
Cryopyrin-Associated Periodic Syndromes (CAPS)
HL2351 CAPS Phase II Study
This is an open label, single arm trial to evaluate the efficacy, safety, and pharmacokinetics of HL2351 in patients with cryopyrin associated periodic syndromes (CAPS).
- Trial name
- NCT02853084
- Testing
- HL2351
- Where
- South Korea
- Volunteers
- 8 people
- Sponsor
- Handok Inc.
Pregnancy Related, Atopic Dermatitis
Study to Compare Maternal, Fetal, and Infant Outcomes of Women With Mild to Moderate Atopic Dermatitis Exposed to Ruxolitinib Cream During Pregnancy With an Unexposed Control Population
This observational (enrollment into the registry while the pregnancy is ongoing) study is being conducted to compare the frequency of major congenital malformation (MCM)s among infants of women exposed to ruxolitinib cream during…
- Trial name
- OPERA-1 (NCT06259669)
- Testing
- Ruxolitinib Cream
- Where
- United States
- Volunteers
- 958 people
- Sponsor
- Incyte Corporation
Lafora Disease
Natural History and Functional Status Study of Patients With Lafora Disease
A natural history and functional status study to characterize the clinical disease course in Lafora disease patients using standardized, quantitative evaluations and to identify useful biomarkers and clinical outcome measures for…
- Trial name
- NCT03876522
- Where
- 4 sites in United States, Italy and 1 more
- Volunteers
- 33 people
- Sponsor
- Ionis Pharmaceuticals, Inc.
Fragile X Syndrome
A 6-week, Study of MG01CI Low Dose and High Dose Compared With Placebo in Adults and Adolescents With Fragile X Syndrome
This study is a multisite, randomized, double-blind, placebo-controlled, phase 2 study of MG01CI (low dose and high dose once daily) for 6 weeks compared with placebo in a 1:1 ratio of 60 adolescent and adult subjects with…
- Trial name
- NCT02126995
- Testing
- MG01CI extended-release tablet
- Where
- 12 sites in United States, Israel
- Volunteers
- 62 people
- Sponsor
- Alcobra Ltd.
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
22q11 Deletion Syndrome, DiGeorge Syndrome
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
This multi-center prospective observational study is designed to track birth outcomes and perinatal correlates to the Panorama prenatal screening test in the general population among ten thousand women who present clinically and…
- Conditions
- 22q11 Deletion Syndrome, DiGeorge Syndrome, Trisomy 21, Trisomy 18
- Trial name
- SMART (NCT02381457)
- Where
- 21 sites in United States, Australia and 4 more
- Volunteers
- 20,960 people, healthy volunteers welcome
- Sponsor
- Natera, Inc.
Gout, Hyperuricemia
SAD,MAD and Food Effect Study of SAP-001 Tablets in Chinese Subjects
To evaluate the pharmacokinetics (PK) profile of single or multiple oral doses of SAP-001 tablets in healthy Chinese subjects and gout patients with hyperuricemia.
- Trial name
- NCT06678581
- Testing
- SAP-001
- Where
- China
- Volunteers
- 70 people, healthy volunteers welcome
- Sponsor
- Shanton Pharma Co., Ltd.
Jaundice, Neonatal, Hyperbilirubinemia, Neonatal
Stannsoporfin With Light Therapy for Newborn Babies With Jaundice
It is normal for red blood cells to die, even in newborn babies. The waste from that is called bilirubin. The liver clears bilirubin out of the body.
- Trial name
- JASMINE_204 (NCT01887327)
- Testing
- Phototherapy, Stannsoporfin
- Where
- 18 sites in United States
- Volunteers
- 91 people
- Sponsor
- InfaCare Pharmaceuticals Corporation, a Mallinckrodt Company
Mucopolysaccharidosis II
An Extension Study of the Long-Term Safety, Tolerability, and Efficacy of Tividenofusp Alfa (DNL310) in Participants With Mucopolysaccharidosis Type II (MPS II) From Study DNLI-E-0002 or Study DNLI-E-0007
This is a multiregional open-label extension (OLE) to assess the safety, tolerability, and efficacy of long-term treatment with tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant intravenous…
- Trial name
- NCT06075537
- Testing
- tividenofusp alfa
- Where
- 30 sites in United States, Argentina and 12 more
- Volunteers
- 99 people
- Sponsor
- Denali Therapeutics Inc.