Clinical Research Directory

Gene Discovery Core, The Manton Center

The Gene Discovery Core at The Manton Center for Orphan Disease Research based at Boston Children's Hospital studies families with rare, poorly understood or undiagnosed, but suspected genetic conditions. The primary goal of the research is to better understand the genes and proteins (gene products) involved in rare diseases. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with rare disease in the future. Individuals with any rare/undiagnosed condition are eligible to enroll. Enrollment includes: * Providing DNA and tissue samples (when available) * Access to participants' medical records * Access to genomic data (when available) Samples are used for genetic analysis (primarily exome and genome sequencing or reanalysis) to identify the genetic cause for the individual's illness. Individual research results are returned to families through their health care provider after confirmation in a clinical lab. If a cause is identified, that can be reported back to the family through their health care provider and the study's genetic counselor. When possible, the investigators also collect samples from parents and full-siblings as well as any other affected family members.

Genome Medical Sequencing for Gene Discovery

Background: \- A number of rare inherited diseases affect only a few patients, and the genetic causes of these conditions remain unknown. Researchers are studying the use of a new technology called genome sequencing to learn which gene or genes cause these conditions. Understanding the genes that cause these diseases is important to improve diagnosis and treatment of affected patients. Objectives: * To identify the genetic cause of disorders that are difficult to identify with existing techniques. * To develop best practices for the medical and counseling challenges of genome sequencing. Eligibility: * Individuals who have one of the rare disorders under consideration in this study. These conditions are generally those in which the genetic cause of the disorder is unknown. The eligibility of most individual participants will be decided on a case-by-case basis by the researchers. * Family members of affected individuals, if that family member (often a parent) may provide genetic information. Design: Participants in this study will have at least one and in some cases several of the following procedures: * A medical genetics evaluation. * Other tests that may include x-rays, magnetic resonance imaging (MRI) exams, and consultations with other doctors. Not all studies are necessary for each person, but the information from the tests may be required to proceed with some of our gene sequencing studies. * Clinical photographs to document certain aspects of the disorder. * Blood, saliva, and skin biopsy samples, or other tissue samples, as required by the study doctors. * Genetic testing, as decided by the researchers. However, most participants in this study can expect to undergo genome sequencing, which is a technique to study all of a person s genes. * Participants will have choices about what kinds of results from genome sequencing they wish to learn. * After the tests have been completed and the results of the genetic studies are known, participants may be offered a return visit to the National Institutes of Health to learn these results, or the results may be returned by telephone or by a participant's home provider.

Implementing Dynamic Consent for Rare Disease Patients

The study aims to test on a cohort of rare patients a digital innovative tool to support patients/parents in the informed consent and assent process and to keep up-to-date a lawful informed and dynamic consent and to use samples and data for research purposes. This will favour their engagement in clinical studies, a step which is well known to be very demanding, particularly in the rare diseases scenario, and stimulate a bidirectional dialogue between researchers and patients/parents/legal representatives.

Channelling Algorithm Proficiency To Understand, Recognise and Elucidate Disease

Rare diseases affect over 3.5 million people in the UK. It can take years of multiple referrals, inconclusive tests or incorrect diagnoses, for patients to get a final diagnosis. We call this diagnostic odyssey, and GPs are often the first point of call for patients at the start. Algorithms can be used to help identify patients with rare diseases faster, who may benefit from testing. They also help healthcare professionals in decision making. Healthcare providers also recognise the value of quality improvement (QI) activities, but practices are often reluctant to participate in non-QOF QI initiatives. CAPTURED aims to help reduce the diagnostic odyssey patients face by evaluating the efficiency of algorithms and tailored primary care QI support to identify, diagnose and refer patients with rare and difficult to diagnose disease. It will contribute towards these aspects of the UK Rare Disease Framework: (Priority 1) helping patients get a final diagnosis faster; and (Priority 2) increasing awareness of rare diseases among healthcare professionals. CAPTURED will run as a stepped wedge, cluster randomised trial. Practices are the participants, and not individual patients. Practices will be randomly allocated to undertake quality improvement programmes (QIP) to help evaluate up to 10 rare disease algorithms. Practices will undertake QIPs at specific times, but at the end, all practices would undertake all the QIPs they have at-risk patients for. Practices will invite at-risk patients for testing/screening, and refer newly diagnosed patients for appropriate care. Practices will be supported with the QIPs by OPC Quality Improvement and Research Support Service, at no cost to practices. CAPTURED will run for 5 years and will enrol 500 practices. The trial does not involve any medicine, drug or equipment. The trial will use anonymised patient data collected from all participating practices into the Optimum Patient Care Research Database (OPCRD).

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients

"Rare Diseases" is an umbrella term including more than 8.000 different diseases which individually affect only a small percentage of people. Rare diseases predominantly affect children and adolescents and are associated with high medical and psychosocial burden of disease. The investigators invented Education \& Care in RARE - a short-term, structured, resource-oriented and child-friendly psychoeducation program for children and adolescents with rare diseases. This study is a prospective, multicenter, randomized and controlled study with a waiting list. Aim of the study is to investigate the efficacy of Education \& Care in RARE on knowledge about rare diseases and on mental health well-being in pediatric rare disease patients, compared to a control group. In this study participants are randomized in an intervention group and a waiting list control group. Both study groups thus receive the psychoeducation with Education \& Care in RARE and complete the identical questionnaires. Compared to the Intervention group, the waiting list control group receives the intervention with a time delay (8-12 weeks later) and has one additional appointment for questionnaire evaluation before start of the psychoeducation.