Providers interested in participating to the DSD-TRN can learn more from the NIH proposal from below.
The DSD-TRN registry is based on the following principles and aims
Disorders of Sex Development (DSD) are congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. This project will elucidate the variable pathways from DSD genotype to psychosexual differentiation and health-related quality of life of the affected person and family across the lifespan. This will be accomplished by creating an infrastructure and collaborative interdisciplinary research network integrating scientific understanding of DSD with real-time standardization and improvement in clinical practice. Clinical care in DSD has been severely hampered by a fragmented research agenda, leaving fundamental gaps in knowledge of DSD pathology and links between treatment options and desirable outcomes. Studies of small and incomplete patient samples, relying predominately on retrospective research designs, remain the standard and provide little insight for hypothesis-driven clinical research. The limited base of clinical evidence is associated with significant variation in diagnostic and treatment practices within and across medical, surgical, and behavioral health aspects of care for patients and their families. In 2006, a consensus statement on the clinical management of DSD called for establishing patient registries in the context of prospective, longitudinal studies. The European Union Commission quickly responded with a collaborative project involving scientists and clinicians across Europe on the pathophysiology and natural course of DSD. As yet, there is no such initiative in North America.
To keep pace with advances in basic and clinical DSD research while accounting for the unique features of the U.S. healthcare system, there is an urgent need to establish a research infrastructure and collaborative network of researchers, healthcare providers, and patient/family advocates, to support basic, translational and clinical research on DSD and other complementary fields of inquiry. Our long-term goal is to establish a environment in which clinical care of persons affected by DSD is evidence-based and guided by research that identifies factors impeding or enhancing opportunities for a positive quality of life across the lifespan. Our objectives are three-fold: (1) to establish standardized DSD diagnostic algorithms, anatomic and physiologic phenotype descriptions, shared treatment decision-making processes, and outcome evaluations that reflect a balance of objective medical/surgical and subjective patient and proxy-reported outcomes, particularly indices of health-related quality of life (HRQoL); (2) to establish a DSD patient-registry that drives multidisciplinary research and clinical quality improvement; and (3) to foster rapid translation and integration of standardized diagnostic and treatment protocols into ongoing clinical care of patients and their families.
The gap between consensus-based recommendations and the status quo for diagnosis and treatment is substantial. Studies examining the relationship between molecular diagnosis and gender development trajectories reveal substantial unexplained variance in outcomes. Other investigations focusing on surgical and psychosocial outcomes suggest that patients (and families) experience preventable emotional and social burden associated with DSD and its management that compromises physical and psychological function across the lifespan. Our central hypothesis is that evidence-based standardization of diagnostic and treatment (medical, surgical, and behavioral health) protocols will be associated with higher rates of definitively diagnosed DSD, reduced variation in clinical practice, enhanced patient/family healthcare-related experiences, and improved quality of life outcomes.
Specific aims of this proposal include:
1. Identifying novel pathophysiological mechanisms and improving the molecular diagnosis of DSD.
2. Standardizing radiological, biochemical, histological evaluations, descriptions of genital phenotype, and
post-surgical appearance and function.
3. Identifying biological and social factors associated with variability in psychosocial, psychosexual, and quality
of life outcomes in patients with DSD.
4. Building a sustainable infrastructure for translational research, including (1) designing and populating a
scalable core registry to support a broad range of DSD-related inquiries; and (2) ensuring rapid translation of new evidence into clinical practice by integrating standardized DSD diagnostic and treatment protocols and fostering transfer of best practices in healthcare delivery across network sites.
We are well positioned to achieve success in these aims. Our leadership combines expertise in biology of sex development and medical genetics (Vilain), psychosocial adaptation to DSD and HRQoL (Sandberg), and healthcare information technology and clinical quality improvement (Asciutto). By engaging scientists and healthcare professionals with extensive track records in their respective fields and complementary knowledge and skills, we ensure synergy and effectiveness in registry development, clinical guidelines implementation, and practice-based quality improvement. The demonstrated expertise, proven track records, strong institutional support and financial commitment, and multidisciplinary collaboration of our teams is critical to the success of the infrastructure, its aims, and its long-term sustainability.