Genetic Diseases clinical trials at University of California Health

14 in progress, 8 open to eligible people

Showing trials for

  • A Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy

    open to eligible males ages 10 years and up

    HOPE-3 is a multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the safety and efficacy of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD) and impaired skeletal muscle function. Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during a 12-month period. All participants will be eligible to receive CAP-1002 for an additional 12 months as part of an open label extended assessment period.

    at UC Davis

  • Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency

    open to all eligible people

    This is a Phase 3 study to assess the safety and efficacy of Tadekinig alfa in patients with monogenic, interleukin-18 (IL 18) driven autoinflammation due to Nucleotide-binding oligomerization domain, leucine-rich repeat and caspase recruiting domain (CARD domain) containing 4 (NLRC4) - Macrophage activation syndrome (MAS) mutation (NLRC4-MAS mutation) or X-linked inhibitor of apoptosis (XIAP) deficiency. Because of the likelihood for pathogenic IL-18 in certain monogenic diseases, patients known to harbor deleterious mutations in NLRC4-MAS or XIAP and who have a history of ongoing inflammation will be enrolled if they have ferritin ≥ 500 ng/mL or persistent C reactive protein (CRP) elevation ≥ 2 times the upper limit of normal (ULN) and the patients should have a Modified Autoinflammatory Disease Activity Index (mAIDAI) ≥ 4.

    at UCSD

  • Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency as Open Label Extension

    open to all eligible people

    This is an open-label extension study for patients previously enrolled in the AB2 Bio Ltd. ongoing Phase III clinical trial NLRC4/XIAP.2016.001 (IND N° 127953). This OLE study will evaluate the long-term safety and tolerability of Tadekinig alfa in patients suffering from pediatric monogenic autoinflammatory diseases harboring deleterious mutations of NLRC4 and XIAP.

    at UCSD

  • Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network

    open to eligible people ages 1 month to 100 years

    Background: - Without an explanation for severe and sometimes life-threatening symptoms, patients and their families are left in a state of unknown. The NIH helped create a network of medical research centers, called the Undiagnosed Diseases Network (UDN), to provide care and answers for these individuals. Objectives: - To improve diagnosis and care for people with undiagnosed diseases. Eligibility: - People with undiagnosed diseases, and their relatives. Design: - Participants will travel to one of the UDN medical centers for a 5-day clinical and research visit. - As part of the visit, UDN healthcare providers may ask participants to have: - Clinically indicated tests and procedures performed including: - A physical exam - Blood and urine tests - A review of health and family history - X-rays and body scans - Surveys - Photographs of the face and body - A special diet to see if the body can handle the food without having a reaction, like vomiting - Video or voice recordings - Other tests and procedures to help reach a diagnosis - Research tests and procedures performed including: - A skin biopsy. For this, a small piece of skin will be taken. - Surveys - Other tests and procedures for research that may not be related to a diagnosis or treatment. - Most participants will be asked to give samples for genetic testing. - Participants may be contacted after their visit to discuss test results. They may also be contacted in the future for interviews and surveys. - Relatives of participants may be asked to give samples for genetic testing. They may be asked to have parts of their visit recorded and to have additional tests. They may also be contacted in the future for interviews and surveys. - Clinical and research information collected will be stored in a database. - Information and samples collected will be shared with others for research purposes.

    at UCLA

  • Natural History of PRPF31 Mutation-Associated Retinal Dystrophy

    open to eligible people ages 10 years and up

    The purpose of this study is to characterize the natural history through temporal systemic evaluation of subjects identified with PRPF31 mutation-associated retinal dystrophy, also called retinitis pigmentosa type 11, or RP11. Assessments will be completed to measure and evaluate structural and functional visual changes including those impacting patient quality of life associated with this inherited retinal condition and observing how these changes evolve over time.

    at UCSF

  • North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

    open to all eligible people

    The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

    at UCSD

  • Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F

    open to eligible people ages 8 years and up

    The overall goal of this project, co-funded by the Foundation Fighting Blindness and the USHER 1F Collaborative is to characterize the natural history of disease progression in patients with PCDH15 mutations in order to accelerate the development of outcome measures for clinical trials.

    at UCSF

  • Rett Syndrome Registry

    open to eligible people ages 0-99

    The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.

    at UCSF

  • Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients

    Sorry, accepting new patients by invitation only

    AOC 1001-CS2 (MARINA-OLE) is a Phase 2 extension of the AOC 1001-CS1 (MARINA) study to evaluate the safety, tolerability, efficacy, pharmacokinetics and pharmacodynamics of multiple-doses of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) patients

    at UCLA

  • Long Term Extension Study in Patients With Primary Hyperoxaluria

    Sorry, accepting new patients by invitation only

    The proposed study is designed to provide patients previously enrolled in Phase 1 and 2 studies of DCR-PHXC and their siblings (<18 years old) long-term access to DCR-PHXC, and to evaluate the long-term safety and efficacy of DCR-PHXC in patients with PH.

    at UCSF

  • Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy

    Sorry, in progress, not accepting new patients

    This study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.

    at UC Davis UCSF

  • Study to Evaluate the Efficacy Safety and Tolerability of Ultevursen in Subjects With RP Due to Mutations in Exon 13 of the USH2A Gene (Sirius)

    Sorry, in progress, not accepting new patients

    The purpose of this study is to evaluate the efficacy safety and tolerability of ultevursen administered via intravitreal injection (IVT) in subjects with Retinitis Pigmentosa (RP) due to mutations in exon 13 of the USH2A gene.

    at UCSD UCSF

  • Alpha-1 Antitrypsin Disease Cohort: Longitudinal Biomarker Study of Disease

    Sorry, not currently recruiting here

    Alpha-1 Anti-trypsin Deficiency (AATD) is a genetic disease with lung and liver disease presentations. The purpose of this study is to examine the density of the lung as measured by chest computed tomography (CT) and determine if existing emphysema predicts changes in the rate of subsequent emphysema or changes in CT, serum or plasma biomarkers of interest. The overarching goal is to develop biomarkers that can be used in interventional trials since lung function changes do not typically inform disease progression in AATD.

    at UCLA

  • Lead-in Study to Collect Prospective Efficacy and Safety Data of Current FVIII Prophylaxis Replacement Therapy in Adult Hemophilia A Participants

    Sorry, in progress, not accepting new patients

    The aim of this prospective, observational study is to establish a dataset on the frequency of bleeding events, as well as other characteristics of bleeding events and FVIII infusions, in patients with clinically severe hemophilia A receiving prophylactic FVIII replacement therapy as standard of care. The data collected from this study may assist in providing baseline information for comparison to the Spark's investigational hemophilia A gene therapy in future Phase 3 studies.

    at UCSF

Our lead scientists for Genetic Diseases research studies include .

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