Search Results Within Category "Rare Diseases"
Longitudinal Study of Porphyrias
The objective is to conduct a longitudinal investigation of the natural history, complications, and therapeutic outcomes in people with acute and cutaneous porphyria.
• patient of any age
• diagnosis of a porphyria
• biochemical findings, as documented by laboratory reports of porphyria-specific testing performed after 1980
• elevations of porphyrins in urine, plasma or erythrocytes due to other diseases
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.
• 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 is a research study documenting the natural history of disease in patients with GM1 or GM2 gangliosidosis. The information collected will be a way to evaluate disease progression and create a disease stage and severity index. Our goal is to use the data collected to measure the effectiveness of any treatments that are developed in the future.
• documented gangliosidosis disease
• able to complete neuropsychological and neurobehavioral assessments
• Late-onset gangliosidosis subjects must be able to tolerate MRI of the head
• none
A Phase 2, Randomized, Human Growth Hormone-Controlled, Multicenter, Basket Study of Vosoritide in Children with Turner Syndrome, Short Stature Homeobox-Containing Gene Deficiency, and Noonan Syndrome with an Inadequate Response to Human Growth Hormone
This study is enrolling children with Turner syndrome, SHOX deficiency, or Noonan syndrome to evaluate the effect of 3 doses of a study drug, vosoritide, versus the standard of care human Growth Hormone (hGH). The study will look at growth over a 6 month period of time. The study will also look at how well the the study drug works (efficacy) and its safety at the therapeutic dose up until the child reaches their final adult height.
• Males >= 3 years old to < 11 years old
• Females >= 3 years old to < 10 years old
• Genetically confirmed diagnosis of Turner syndrome, SHOX deficiency or Noonan Sydrome
• Have been receiving continuous human growth hormone treatment of short stature associated with their condition for a minimum of 1 year
• Diagnosis of another systemic disease or condition that may cause short stature