Search Results
RARE-OB-16: Rare CFTR Mutation Cell Collection Protocol (RARE) (RARE)
We are doing the RARE study to learn more about Cystic Fibrosis (CF). CF is caused by mutations in a gene that produces a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). In people with CF, the CFTR does not function correctly. Medications are being developed to help the CFTR function better, but those medications mostly benefit people with common CFTR mutations. There are more than 1,900 mutations of the CF gene. Some of these mutations are rare and found only in a few people. The goal of this research study is to collect specimens (blood, nasal cells, rectal cells) from people with rare CFTR mutations. Another purpose of this study is to create induced pluripotent stem cells or iPS cells. “Pluripotent” stem cells are cells that can be changed into almost any cell type of the body (such as lung or intestine). They can be kept alive and stored indefinitely. There are different kinds of pluripotent stem cells. Inducted pluripotent stem cells can be created from many different kinds of specimens (such as blood, nasal cells, rectal cells). This is different from embryonic stem cells, which can only be derived from embryos. The specimens collected during this study and iPS cells created from them will be stored for use in future research to learn more about CF and study the effect of new medications. This could identify new medications that may help people with rare CFTR mutations.
Dena Johnson - joh20459@umn.edu
• at least 12 years old
• documented diagnosis of Cystic Fibrosis (CF)
• willing to travel (if needed) to a regional study site for cell collection
• presence of a medical condition, abnormality, or laboratory value that would place the participant at risk (study staff will review)
Pediatric COVID-19: Does infection with the SARS-CoV-2 virus alter brain structure and function?
The goal of the proposed project is to investigate whether brain abnormalities are present in children to young adults after the recovery from coronavirus disease 2019 (COVID-19).
Monica Bondy - bondy023@umn.edu
• diagnosis of COVID-19 in the past
• experiencing long covid symptoms for at least 2 months
• 3 to 25 years old at the time of entry into the study
• active positive COVID-19 diagnosis (as confirmed by a medical provider &/or certified testing site) for at least 4 weeks prior to projected enrollment date
• surgically implanted pacemaker
• indwelling electronic device, including programmable shunts
• orthodontic braces, unless non-metallic
• implanted metal in the body other than titanium
• inability or unwillingness to complete an MRI
• pregnancy
• anyone not meeting standard MRI requirements according to CMMR protocol (ie presence of metal in body or implanted pacemaker) will be excluded from that portion of the study
Natural History Study for DNA Repair Disorders
A single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).
Erin Aguero - aguer008@umn.edu
• at least 6 months old
• diagnosis of Cockayne syndrome (CS), xeroderma pigmentosum (XP), or trichothiodystrophy (TTD), based on genetic testing and/or key clinical characteristics
• have one or more of the neurodevelopmental or neurological complications such as gross motor delay, language delay, altered muscle tone (study staff will review)
• family member of an individual with the above condition
• prior history of systemic gene or cell-based therapy
• participation in a clinical trial for treatment
Cortical Inhibitory Biomarkers of Acute Suicidal States in Adolescents
Prospective study investigating brain activity associated with markers of suicidal behavior (SB) in adolescents.
Ab Flab Study - abflab@umn.edu
• ages 13-21
• current diagnosis of depression
• prior history of either thoughts about suicide, or suicidal behaviors (a suicide attempt or a planned attempt that was stopped before it began)
• must be able to communicate verbally and in writing in English
• parental permission is needed for participants aged 17 or younger
• must have reliable internet connection
• Active substance use in the past month
• Neurological disorders such as seizures, head injury
Determinants of Renal Structural Responses to Enzyme Replacement Therapy (ERT) in Fabry Disease Study (LDN6702)
The effect of enzyme replacement therapy on how well your kidneys are responding to enzyme replacement therapy (ERT) is not clear from blood and urine tests alone, but may be more clear in comparisons of kidney biopsies performed before and some time after ERT has been initiated, and this is what we are focusing our study efforts on. The purpose of this study is to obtain your permission to allow us to study the kidney biopsy tissues (collected for medical reasons) after the regular routine studies have been completed. Through our special research measurements and additional study, we hope to be able to see and measure very specific changes in the kidney tissues from Fabry patients taking ERT. We also hope that through these studies of what happens within the kidney before and after starting ERT, we are able to reveal valuable information about the importance of factors like your age that you started ERT, the amount or dosage of ERT, and any differences seen between males and females.
Michael Mauer - mauer002@umn.edu
• diagnosed with Fabry disease and a clinical decision has been made to obtain a kidney biopsy, a GFR, and urinary albumin studies
• have previously completed clinical trials which included measures of renal function and renal biopsies
• serum creatinine more than 2.5 mg/dL
• known to have a renal disease other than Fabry
Improving Diagnosis and Treatment in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
This is a multi-center, prospective, observational cohort registry study looking at kids and their relatives with Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT).
Brittany Faanes - grego318@umn.edu
• anyone diagnosed with CPVT before 19 years of age.
• significant medical history that isn't related to CPVT
Focus in NeuroDevelopment (FIND) Network: A Statewide Network for Research in Neurodevelopment
The purpose of this research project is to develop a registry and database of families with neurodevelopmental disorders.
Shelby Wren - flana064@umn.edu
• All ages
• All individuals with disabilities and families within the neurodevelopmental disorder community
• Also looking for clinicians, educators, and professionals in the field
Synergistic Enteral Regimen for Treatment of the Gangliosidoses (SYNER-G) (Syner-G)
The Syner-G regimen research study seeks to evaluate the use of a combination of a medication called miglustat and a ketogenic diet for treatment of the gangliosidoses to learn if this combination will provide improved clinical outcomes compared to what we currently know about the natural course of the disease.
Jeanine Jarnes - utzx0002@umn.edu
• no more than 17 years old
• documented infantile or juvenile gangliosidosis disease
• severe kidney disease
• females who are pregnant or breast feeding
• females who are post puberty who are unwilling to use highly effective birth control
A Natural History Study of the Gangliosidoses
This study's primary aims are to define and characterize disease progression for the infantile and juvenile forms of the gangliosidoses, and the late-onset forms of gangliosidosis, including their heterogeneity; and to observe treatment outcomes for any treatments tried. The secondary aims of this study are to understand the neurological involvement in late-onset gangliosidosis; and to collect data on disease progression that can be used for creation of an objective disease stage and severity index.
Jeanine Jarnes - utzx0002@umn.edu
• documented gangliosidosis disease
• able to complete neuropsychological and neurobehavioral assessments
• Late-onset gangliosidosis subjects must be able to tolerate MRI of the head
• none