22 Clinical Trials for Various Conditions
The goal of this clinical trial is to evaluate the safety and preliminary efficacy of subretinal gene therapy with OPGx-001 in patients with inherited retinal degeneration due to biallelic mutations in the LCA5 gene.
The purpose of the LCAT (Lecithin cholesterol acyl transferase) Natural History Study (LCAT NHS) is to help identify people with a mutation in a gene called LCAT, collect and store information about their medical history and disease course, and to assess for associations and follow changes in clinical features and biomarkers of disease. This information will help health care providers better understand the natural history of disease of LCAT deficiency. Study staff will collect information from previous clinical visits such as lab tests, physical exam findings, renal and cardiovascular imaging, findings from kidney biopsies and eye exams, and medication and other treatments. As part of this study the investigators are asking participants permission to reach out to their doctors to obtain medical records and stored samples (such as serum or plasma or biopsies) from past visits. Participants may also be asked to join a web-based patient portal to complete a patient-outcomes survey. As part of this study, participants will also be asked to do the following things at different times: * Answer questions about: * Demographic information (year of birth, age, gender, race/ethnicity, country) * LCAT deficiency diagnosis such as year of diagnosis, type of diagnosis (clinical, genetic), genotype information/LCAT mutation status * Medical history and family history and any updates * A review of medications If participants are able to come to a study visit in person the following may happen: Physical examination including vital signs (height, weight, blood pressure, and heart rate) Urine and blood samples for laboratory testing. participants will be required to fast for 10 hours before the blood tests. A small blood sample may also be taken 2-4 hours after a meal. * The following will be tested: the different types of cholesterol and other fats in the blood (lipids), standard hematology (type and number of blood cells), blood chemistries such as sodium, potassium, and calcium, thyroid function, liver panel (function of the liver), kidney function and the level of protein in urine * Blood and urine samples may also be stored for future testing * Genetic material will be collected * Blood cells may be stored for future research * Participants will have approximately 4.5 tablespoons of blood drawn annually. * If not done previously, participants will complete an eye exam. * Participants may be seen by a doctor specialized in renal disease
Background: * High density lipoprotein (HDL), or good cholesterol, moves cholesterol from the artery walls back to the liver. A blood enzyme known as LCAT maintains HDL levels and helps it remove cholesterol from the body. Familial LCAT deficiency (FLD) is a genetic disease that results in low levels or total absence of LCAT. People with FLD often have kidney problems, and may develop kidney failure. Researchers think that the clinical problems of FLD can be prevented or even reversed by replacing the defective enzyme. * There are no drugs that increase LCAT. It has to be artificially made and infused into the body. The artificial LCAT is called recombinant human LCAT, or ACP-501. Researchers want to see how well it works in one person with FLD and poor kidney function. Objectives: - To see whether ACP-501 can improve the symptoms of FLD. Eligibility: - One person (the study participant) with FLD. Design: * The participant will be screened with a physical exam and medical history. Blood samples will be collected. * The participant will receive ACP-501 and remain in the hospital for 24 hours for regular blood tests. The participant may stay in the hospital or return for daily clinic visits until it is time for the next dose. The second dose will be given on Day 4 or Day 8. * If an optimal dose has not yet been identified, a third dose will be given 7 days after the second dose. * The participant will then go home, but must return to the hospital for ACP-501 infusions and blood tests every 1 or 2 weeks, as needed. Every 3 months, the participant will have a full clinic visit with blood tests and other studies.
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 with Leber's Congenital Amaurosis (LCA) due to the CEP290 p.Cys998X mutation after 24 months of treatment
The purpose of this study is to evaluate the safety, tolerability and efficacy of a single escalating doses of EDIT-101 administered via subretinal injection in participants with LCA10 caused by a homozygous or compound heterozygous mutation involving c.2991+1655A\>G in intron 26 of the CEP290 gene ("LCA10-IVS26").
The purpose of this study is to evaluate the safety and tolerability of QR-110 administered via intravitreal injection in subjects with LCA due to the CEP290 p.Cys998X mutation.
A clinical trial of AAV2/5 vector for patients with Defects in RPE65
The study is a follow-on to a Phase 1 dose-escalation and safety study.
The purpose of this study is: * to evaluate the safety of oral QLT091001 * to evaluate whether 7-day treatment with oral QLT091001 can improve visual function in subjects with LCA or RP due to RPE65 or LRAT mutations * to evaluate duration of visual function improvement (if observed)
This study is a longer-term follow-up study for patients who have been administered AAV2/5-OPTIRPE65 in the Phase I/II, open label, non-randomised, two-centre, dose escalation trial in adults and children with retinal dystrophy associated with defects in RPE65.
To evaluate the natural history of visual function in subjects with IRD phenotypically diagnosed as Leber congenital amaurosis (LCA) or retinitis pigmentosa (RP) caused by RPE65 or LRAT gene mutations.
The purpose of this study is: * To evaluate the safety of up to 3 additional courses of oral QLT091001 administered once daily for 7 days in subjects treated previously with a single 7-day course of QLT091001 in Study RET IRD 01 * To evaluate whether up to 3 additional courses of oral QLT091001 administered once daily for 7 days can maintain or improve visual function.
Primary Objective: To evaluate the safety and tolerability of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with Leber Congenital Amaurosis (LCA) caused by autosomal recessive guanylate cyclase 2D (GUCY2D) mutations (GUCY2D-LCA). Secondary Objective: To evaluate the efficacy of ascending doses of ATSN-101 administered as a unilateral subretinal injection in patients with GUCY2D-LCA.
The purpose of this study is to investigate the use of radiolabeled particulate cholesterol administered intravenously in association with albumin, as a method to study reverse cholesterol transport (RCT) in people carrying mutations in genes known to affect high density lipoprotein (HDL) metabolism by analyzing changes in the tracer activity in total plasma, lipoproteins fractions and feces.
The purpose of the study is to determine whether HG004 as gene therapy is safe and effective for the treatment of Leber Congenital Amaurosis caused by mutations in RPE65 gene.
The purpose of the study is to evaluate the safety and efficacy of an adeno-associated virus vector expressing RPE65 in patients with Leber congenital amaurosis caused by mutations in the RPE65 gene. Funding Source - FDA OOPD
A recombinant adeno-associated virus serotype 2 (rAAV2) vector has been altered to carry the human RPE65 (hRPE65) gene. This vector has been shown to restore vision in animal models that resemble human RPE65-associated Leber congenital amaurosis (LCA), an incurable retinal degeneration that causes severe vision loss. The proposed study is an open label, Phase I clinical trial of subretinal rAAV2-CBSB-hRPE65 administration to individuals with RPE65-associated retinal disease. Five cohorts will be included in this trial. Cohorts 1, 2 and 4 will consist of individuals 18 years of age and older. Cohorts 3 and 5 will consist of individuals between the ages of 8 and 17, inclusive. Enrollment in Cohorts 3 and 5 will begin only after confirming the safety of rAAV2-CBSB-hRPE65 administration in the older groups of participants. This trial will lead to a greater understanding of the safety and thereby potential value of gene transfer in RPE65-associated retinal disease and will have implications for other forms of retinal degenerative disease amenable to this type of intervention. The goal of this clinical trial is to determine the safety of uniocular subretinal administration of rAAV2-CBSB-hRPE65 in individuals with RPE65-associated retinal disease. Ocular and systemic toxicity will be assessed prior to and following vector administration to determine if there are adverse changes that may be associated with vector administration.
Subjects completing participation in study PQ-110-001 (EudraCT 2017-000813-22 / NCT03140969) will be given the opportunity to enroll into the extension study for continued dosing if available data support current and/or future benefits for the subject. Study PQ-110-002 will provide long-term safety, tolerability, pharmacokinetic (PK), and efficacy data of QR-110.
The objective of this study is to collect long-term safety information (i.e., for 5 years after treatment) associated with voretigene neparvovec-rzyl (vector and/or transgene), its subretinal injection procedure, the concomitant use of corticosteroids, or a combination of these procedures and products. The enrollment period will last for two years from the first treatment following product approval (through 31March2020) and include a minimum of 40 patients.
A prospective natural history study with systematic assessments and uniform follow-up to provide a high-quality dataset for assisting in the design of future clinical treatment trials involving patients with CEP290-related retinal degeneration caused by the common intron 26 mutation.
This study is a phase 1, intravenous, open-label, single-dose escalation study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of ACP-501 (recombinant human Lecithin Cholesterol Acyl Transferase (rhLCAT)) in subjects with coronary artery disease (CAD). Four cohorts consisting of 4 subjects each will receive one dose of ACP-501. The dose will be escalated by cohort.
Lipoproteins are particles that carry fats such as cholesterol and triglycerides through the blood stream. These particles are involved in causing blood vessel disease that can lead to conditions like hardening of the arteries (atherosclerosis) or heart attacks (myocardial infarctions). This study is designed to look closely at the factors affecting lipoproteins. Researchers plan to study patients and normal volunteers by measuring lipoprotein levels in the blood. Patients and volunteers will be placed on a balanced diet during the study. In addition, researchers plan to measure levels of various hormone and enzymes in the blood. Patients and volunteers participating in the study may be asked to undergo more specific tests in order to collect more information about lipoprotein metabolism. This study may not provide direct benefits to patients and volunteers participating in it. However, information gathered from this study may help researchers develop better skills and techniques to diagnose and treat patients with diseases of lipoprotein metabolism.