Current Research Opportunities
CLARITY - Achondroplasia Natural History Multicenter Clinical Study
The purpose of this study is to create an electronic registry to house phenotypic information from patients with achondroplasia. The initial focus of this registry will be to include U.S. patients with achondroplasia. Once populated, the collective data can be queried to pursue clinical research questions pertaining to health outcomes and treatment options for patients with this condition. The registry is longitudinal in nature with the functionality to retrospectively enter patients' clinical data from the prenatal period up through the most recent encounter, with all intervening data entered in a chronologic fashion.
A Phase 2, Open-Label, Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children with Achondroplasia
This is a Phase 2, Open-Label, Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children with achondroplasia. The primary objective is to evaluate the long-term safety and tolerability of daily subcutaneous injections of BMN 111 in children with achondroplasia who have completed two years of treatment in the 111-202 study.
Natural History Study of Adult and Pediatric Patients with Hypophosphatasia (HPP)
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by defective bone and teeth mineralization caused by mutations of the ALPL gene, which encodes for the tissue-nonspecific alkaline phosphatase (TNSALP) isozyme, resulting in decreased serum and bone alkaline phosphatase levels. To date, over 250 different mutations in the gene encoding TNSALP have been associated with HPP. Clinically, the loss of TNSALP function results in progressive skeletal impact as well as progressive impact on all other major organ systems. It clinically manifests as rickets in infants and children and osteomalacia at all ages. The severe form of the disease has been estimated to have a prevalence of about 1 in every 100,000 live births. Patient clinical data will be collected related to the diagnosis, onset, progression, treatment course and outcome for patients with HPP.
Registry for Patients with Hypophosphatasia
Dreambird: Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia
For more information about these research opportunities, contact:
Clinical Operations Program Administrator
Johns Hopkins Hospital
600 N. Wolfe Street
Baltimore, MD 21287
Fax: (410) 502-2375