Clinical trials: Genetic Conditions
Chronic Nasal Congestion, Lung Infection
Biomarker for Cystic Fibrosis
International, multicenter, observational, longitudinal study to identify biomarker/s for Cystic fibrosis and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s
- Conditions
- Chronic Nasal Congestion, Lung Infection, Breathlessness, Clubbing Toes
- Trial name
- BioCyFi (NCT02710383)
- Where
- 5 sites in Albania, Georgia and 3 more
- Volunteers
- 54 people
- Sponsor
- CENTOGENE GmbH Rostock
Pancreas Cancer, Pancreatic Ductal Adenocarcinoma
Clinical Performance of Medical Device Software "Lipidica 1.0" for Processing Data Generated by Lipidomic Analysis in Pancreatic Cancer Screening
Software "Lipidica" is intended to be used for processing data generated by the in-house in vitro diagnostic medical device for lipidomic testing for the purpose of screening Pancreatic cancer (PaC) in the population at high risk…
- Conditions
- Pancreas Cancer, Pancreatic Ductal Adenocarcinoma, Hereditary Diseases, Pancreatitis, Chronic
- Trial name
- NCT06549725
- Testing
- software Lipidica, endoscopic ultrasonography, magnetic resonance
- Where
- 16 sites in Czechia
- Volunteers
- 419 people, healthy volunteers welcome
- Sponsor
- Lipidica, a.s.
Haemophilia A, Haemophilia B
Management of Health-Related QoL Impairment, Including Pain, Depression and Anxiety, in People With Haemophilia A and B
The puropse of this non-interventional register and survey study is to identify the patterns of prescribed pain, anti-depressive and anti-anxiety medication and management of pain, depression and anxiety for people with…
- Trial name
- MIND (NCT03276130)
- Where
- 5 sites in Denmark, Finland and 1 more
- Volunteers
- 2,300 people
- Sponsor
- Swedish Orphan Biovitrum
Pregnancy, Aneuploidy
Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker
The purpose of this study is to collect samples for the purpose of developing a prenatal aneuploid test using circulating cell free fetal (ccff) nucleic acid from blood samples from pregnant women who have a high-risk pregnancy…
- Conditions
- Pregnancy, Aneuploidy, Down Syndrome, Edwards Syndrome
- Trial name
- NCT00971334
- Where
- 35 sites in United States, France
- Volunteers
- 2,502 people
- Sponsor
- Sequenom, Inc.
To Determine Bioequivalence Under Fed Conditions
Bioavailability Study of Tramadol/APAP Tablets Under Fed Conditions
To compare the relative bioavailability of Kali and Ortho-McNeil's products
- Trial name
- NCT00652821
- Testing
- Tramadol/ APAP, Ultracet
- Volunteers
- 22 people, healthy volunteers welcome
- Sponsor
- Par Pharmaceutical, Inc.
Fed
Bioavailability Study of Desloratadine 5 mg Tablet of Dr. Reddy's Under Fed Conditions
The purpose of this study is to compare the rate and extent of absorption of Dr. Reddy's Desloratadine 5 mg tablet to that of Clarinex® 5 mg tablet in healthy subjects under fed conditions.
- Trial name
- NCT01314352
- Testing
- Desloratadine
- Where
- United States
- Volunteers
- 28 people, healthy volunteers welcome
- Sponsor
- Dr. Reddy's Laboratories Limited
Fed
Bioequivalence Study of Indomethacin Extended-Release Capsules 75 mg Under Fed Condition
This is a randomized, balanced, open Label, two-treatment, two-period, two-sequence, single dose, crossover pivotal study. The purpose of this study is to assess the bioequivalence between Test Product and the corresponding…
- Trial name
- NCT01722110
- Testing
- Indomethacin Extended-Release Capsules USP 75 mg, Indomethacin Extended Release Capsules USP 75 mg
- Where
- India
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- IPCA Laboratories Ltd.
Fed
Bioequivalence Study of Risperidone Tablet 1 mg Under Fed Condition
This is a randomized, open Label, balanced, two-treatment, two-period, two-sequence, single dose, crossover pivotal study. The purpose of this study is to assess the bioequivalence between Test Product and the corresponding…
- Trial name
- NCT01618760
- Testing
- Risperidone Tablet 1 mg, Risperidone
- Where
- India
- Volunteers
- 48 people, healthy volunteers welcome
- Sponsor
- IPCA Laboratories Ltd.
Mucopolysaccharidosis (MPS)
Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project)
Mucopolysaccharidosis (MPS) type II (MPS II; Hunter syndrome) is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S) and occurs almost exclusively in boys, with an incidence of…
- Trial name
- NCT02095015
- Where
- 14 sites in United States, Canada and 5 more
- Volunteers
- 159 people
- Sponsor
- Shire
Genetic Disorders
Reproducibility of the Array-Based Comparative Genomic Hybridization (aCGH) System Using Whole Blood Samples
The objective of this study is to validate the performance characteristics of the GeneTrait CGH Microarray System DX. Reproducibility among sites, lots, and operators will be evaluated.
- Trial name
- NCT00214448
- Volunteers
- 4 people
- Sponsor
- Abbott Molecular
Mucopolysaccharidosis II
A Study of Tividenofusp Alfa (DNL310) in Pediatric Participants With Hunter Syndrome
This is a multicenter, multiregional, open-label study to assess the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of tividenofusp alfa (DNL310), an investigational central nervous system (CNS)-penetrant enzyme…
- Trial name
- NCT04251026
- Testing
- tividenofusp alfa
- Where
- 7 sites in United States, Canada and 2 more
- Volunteers
- 47 people
- Sponsor
- Denali Therapeutics Inc.
Healthy Volunteers, Cryopyrin Associated Periodic Syndrome
Safety and Tolerability, Pharmacokinetic and Pharmacodynamic Study With IZD334
This is a first in human (FIH), single-centre, double -blind, randomised, cross-over, SAD followed by a MAD study of IZD334 conducted in healthy adult participants as well as an open-label cohort in adult patients with CAPS.
- Trial name
- NCT04086602
- Testing
- IZD334
- Where
- Australia
- Volunteers
- 64 people, healthy volunteers welcome
- Sponsor
- Inflazome UK Ltd
Primary Photoreceptor Disease, Retinitis Pigmentosa (RP)
A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
Study OpCT-001-101 is a Phase 1/2a first-in-human, multisite, 2-part interventional study to evaluate the safety, tolerability, and the effect on clinical outcomes of OpCT-001 in approximately 54 adults with primary photoreceptor…
- Conditions
- Primary Photoreceptor Disease, Retinitis Pigmentosa (RP), Usher Syndrome, Inherited Retinal Disease (IRD)
- Trial name
- CLARICO (NCT06789445)
- Testing
- OpCT-001
- Where
- 5 sites in United States
- Volunteers
- 54 people
- Sponsor
- BlueRock Therapeutics
Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease
Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP)
This LTFU is being conducted to assess long-term safety and durability of response in participants dosed with IP in a parent protocol, and to collect longitudinal natural history in enrolled but not dosed participants who also…
- Conditions
- Ornithine Transcarbamylase Deficiency, Ornithine Transcarbamylase Deficiency Disease, Urea Cycle Disorders, Inborn
- Trial name
- NCT06805695
- Testing
- No Intervention
- Where
- 3 sites in United States, United Kingdom
- Volunteers
- 13 people
- Sponsor
- iECURE, Inc.
Gout, Hyperuricemia
A Dose Finding Study to Assess Efficacy and Safety of IBI128 in Chinese Gout Subjects
IBI128 (Tigulixostat) is a novel non-purine selective inhibitor of xanthine oxidase (XO). The XO inhibitors lower uric acid concentrations in serum by inhibiting the production of uric acid.
- Trial name
- NCT06501534
- Testing
- Febuxostat, IBI128
- Where
- China
- Volunteers
- 84 people
- Sponsor
- Innovent Biologics (Suzhou) Co. Ltd.
Amyotrophic Lateral Sclerosis
A Second Intermediate-Size Expanded Access Protocol (EAP) for Pridopidine in People With Amyotrophic Lateral Sclerosis (Pridopidine EAP 2)
Protocol PL101-ALS501: This EAP will provide access to pridopidine for up to 200 patients with ALS who are ineligible for clinical trials.
- Trial name
- NCT06069934
- Testing
- Pridopidine
- Where
- 32 sites in United States, Puerto Rico
- Sponsor
- Prilenia
Pro-opiomelanocortin (POMC) Deficiency Obesity
Setmelanotide for the Treatment of Early-Onset Pro-Opiomelanocortin (POMC) Deficiency Obesity
To demonstrate statistically significant and clinically meaningful effects of setmelanotide on percent body weight change in participants with pro-opiomelanocortin (POMC) deficiency or proprotein convertase subtilisin/kexin type…
- Trial name
- NCT02896192
- Testing
- Setmelanotide
- Where
- 7 sites in United States, Belgium and 5 more
- Volunteers
- 15 people
- Sponsor
- Rhythm Pharmaceuticals, Inc.
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
Metabolic Dysfunction-Associated SteatoHepatitis (MASH)
A Precision Medicine Approach Using Gene Silencing to Treat a Chronic Liver Disease Called Metabolic Dysfunction-Associated Steatohepatitis (MASH) in Adult Participants at Increased Genetic Risk for This Condition
This study is researching an investigational drug, ALN-HSD called "study drug". This study is focused on participants who are known to have Metabolic dysfunction-Associated SteatoHepatitis (MASH).
- Trial name
- NASHGEN-2 (NCT05519475)
- Testing
- ALN-HSD
- Where
- 71 sites in United States, Japan and 2 more
- Volunteers
- 120 people
- Sponsor
- Regeneron Pharmaceuticals
Emphysema, Alpha 1-proteinase Inhibitor Deficiency
Extension Study of Zemaira® i.v. Administration in Subjects With Emphysema Due to alpha1-proteinase Inhibitor Deficiency.
This study is a continuation of the placebo-controlled study CE1226_4001 (NCT00261833) to evaluate the efficacy and safety of Zemaira® intravenous (i.v).
- Trial name
- NCT00670007
- Testing
- Alpha1- proteinase inhibitor [human]
- Where
- 21 sites in Australia, Canada and 9 more
- Volunteers
- 140 people
- Sponsor
- CSL Behring