14 research outputs found
Barriers and facilitators to clinical trial participation among parents of children with pediatric neuromuscular disorders
Genetics of disease, diagnosis and treatmen
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its second funding cycle, is investigating the effectiveness of integrating genomic (exome or genome) sequencing into the clinical care of diverse and medically underserved individuals in a variety of healthcare settings and disease states. The consortium comprises a coordinating center, six funded extramural clinical projects, and an ongoing National Human Genome Research Institute (NHGRI) intramural project. Collectively, these projects aim to enroll and sequence over 6,100 participants in four years. At least 60% of participants will be of non-European ancestry or from underserved settings, with the goal of diversifying the populations that are providing an evidence base for genomic medicine. Five of the six clinical projects are enrolling pediatric patients with various phenotypes. One of these five projects is also enrolling couples whose fetus has a structural anomaly, and the sixth project is enrolling adults at risk for hereditary cancer. The ongoing NHGRI intramural project has enrolled primarily healthy adults. Goals of the consortium include assessing the clinical utility of genomic sequencing, exploring medical follow up and cascade testing of relatives, and evaluating patient-provider-laboratory level interactions that influence the use of this technology. The findings from the CSER consortium will offer patients, healthcare systems, and policymakers a clearer understanding of the opportunities and challenges of providing genomic medicine in diverse populations and settings, and contribute evidence toward developing best practices for the delivery of clinically useful and cost-effective genomic sequencing in diverse healthcare settings
Expectations and experiences of investigators and parents involved in a clinical trial for Duchenne/Becker muscular dystrophy
Genetics of disease, diagnosis and treatmen
"Watching time tick by...": Decision making for Duchenne muscular dystrophy trials
Genetics of disease, diagnosis and treatmen
CARE OF GIRLS AND WOMEN WITH TURNER SYNDROME: A GUIDLINE OF THE TURNER SYNDROME STUDY GROUP.
Objectives: The objective of this work is to provide updated guidelines
for the evaluation and treatment of girls and women with Turner
syndrome (TS).
Participants: The Turner Syndrome Consensus Study Group is a
multidisciplinary panel of experts with relevant clinical and research
experience with TS that met in Bethesda, Maryland, April 2006. The
meeting was supported by the National Institute of Child Health and
unrestricted educational grants from pharmaceutical companies.
Evidence: The study group used peer-reviewed published information
to form its principal recommendations. Expert opinion was used
where good evidence was lacking.
Consensus: The study group met for 3 d to discuss key issues. Breakout
groups focused on genetic, cardiological, auxological, psychological,
gynecological, and general medical concerns and drafted recommendations
for presentation to the whole group. Draft reports were
available for additional comment on the meeting web site. Synthesis
of the section reports and final revisions were reviewed by e-mail and
approved by whole-group consensus.
Conclusions:Wesuggest that parents receiving a prenatal diagnosis
of TS be advised of the broad phenotypic spectrum and the good
quality of life observed in TS in recent years. We recommend that
magnetic resonance angiography be used in addition to echocardiography
to evaluate the cardiovascular system and suggest that patients
with defined cardiovascular defects be cautioned in regard to
pregnancy and certain types of exercise. We recommend that puberty
should not be delayed to promote statural growth. We suggest a
comprehensive educational evaluation in early childhood to identify
potential attention-deficit or nonverbal learning disorders. We suggest
that caregivers address the prospect of premature ovarian failure
in an open and sensitive manner and emphasize the critical importance
of estrogen treatment for feminization and for bone health
during the adult years. All individuals with TS require continued
monitoring of hearing and thyroid function throughout the lifespan.
We suggest that adults with TS be monitored for aortic enlargement,
hypertension, diabetes, and dyslipidemia. (J Clin Endocrinol
Metab 92: 10\u201325, 2007)
TURNER SYNDROME (TS) affects approximately one in
2500 live-born females (1). This disorder presents the
clinician with a challenging array of genetic, developmental,
endocrine, cardiovascular, psychosocial, and reproductive
issues. There have been important advances in each of these
arenas since publication of the previous recommendations
for the care of girls and women with TS (2). This paper is
based on the proceedings of a multidisciplinary international
conference sponsored by the National Institute of Child
Health and Human Development (NICHD) in April 2006.
Discussions at this conference and the ensuing recommendations
have been based upon recent, peer-reviewed scientific
publications. However, there are very few TS studies
that would qualify as guidance for evidence-based recommendations,
and henc