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Current Research Opportunities

Achondroplasia Natural History Multicenter Clinical Study

NCT02597881  (study ID at clinicaltrials.gov)

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 Multicenter, Multinational Clinical Assessment Study for Pediatric Patients with Achondroplasia

NCT01603095 (study ID at clinicaltrials.gov)

This is a multicenter, multinational study to collect consistent baseline growth measurements on pediatric patients with achondroplasia being considered for subsequent enrollment in Study 111-202 or future phase 3 clinical trials.  No study drug is administered as part of this trial. 

A Phase 2, Open-Label, Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of BMN 111 in Children with Achondroplasia

NCT02724228 (study ID at clinicaltrials.gov)

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)

NCT02237625 (study ID at clinicaltrials.gov)

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.

Retrospective Hypophosphatasia (HPP) Electronic Medical Record (EMR) Analysis

The objective of the study is to determine the prevalence of significantly low total serum alkaline phosphatase values recorded in the EMR at Johns Hopkins Hospital over a 4 year period.  After application of specific inclusion and exclusion criteria for the study population, chart review for medical history that may be consistent with HPP will be extracted and analyzed for risk of HPP. 

If you would like more information about these research opportunities, please contact:

Colleen Gioffreda
Clinical Operations Program Administrator
Johns Hopkins Hospital
600 N. Wolfe Street
Baltimore, MD  21287
Phone: (410) 614-0977
Fax: (410) – 502-2375