Metabolic Research Team

Our team specializes in research involving patients with inborn errors of metabolism. Recently, our work in liver cell transplants for urea cycle disorders was recognized as one of the innovative achievements in research in Alberta.

 

Dr. Aneal Khan, MSc, MD, FRCPC, FCCMG – Associate Professor of Medical Genetics and Pediatrics, University of Calgary and Medical Geneticist

Dr. Rebecca Sparkes, MD, FRCPC, FCCMG, Medical Geneticist

Dr. Walla Al-Hertani, MSc, MD, FRCPC, FCCMG, Metabolics Physician and Clinical Geneticist, Clinical Assistant Professor of Medical Genetics and Pediatrics

Shelly Jelinski, CCRP, Clinical Research Coordinator

Connie Mohan, CCRP, Clinical Research Coordinator

Jos Alas, BSc, MBT, Clinical Research Assistant

Kelsey Lehman, Research Administrative Assistant

Shelly Carle, Data Entry

Chris Newell, MD/PhD Candidate

Kara Sidhu, MSc

Marisa Chard, MD, FRCPC, Fellow in Clinical Biochemical Genetics

Our research is focused on clinical trials involving investigational new drugs, cell transplant, gene therapy, non-drug therapies and rare diseases registries for patients with metabolic diseases.  We have more than 20 active clinical studies.  Studies involve both children and adults and are conducted at Alberta Children’s Hospital, Foothills Medical Centre, and our off-site space: Metabolics and Genetics in Calgary (M.A.G.I.C.) Clinic Ltd. in Calgary.  We do pre-clinical, Phase I, II, III and IV studies and basic science research.

Lysosomal:

CFDI

  • Study name: Canadian Fabry Disease Initiative
  • Clinicaltrails.gov identifier: NCT00455104
  • Purpose: CFDI will determine the impact of Enzyme Replacement Therapy (ERT) on the development of complications of Fabry Disease in males and females currently on, or who have received ERT; and to assess which of these complications respond to the ERT therapy.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Shelly Jelinski
  • Ethics ID: REB15-0341

Rep081

  • Study name: A Multicenter Open-Label Treatment Protocol to Observe the Safety of Replagal (Agalsidase Alfa) Enzyme Replacement Therapy in Canadian Patients With Fabry Disease
  • Clinicaltrails.gov identifier: NCT01298141
  • Purpose: The purpose of this study is to observe the safety of agalsidase alfa in Canadian patients with Fabry disease.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Shelly Jelinski
  • Research Associate: Josmar Alas
  • Ethics ID: REB15-1064

FACTS gene therapy

  • Study name: Autologous Stem Cell Transplantation of Cells Engineered to Express Alpha-Galactosidase A in Patients With Fabry Disease
  • Clinicaltrails.gov identifier: NCT02800070
  • Purpose: This is a first-in-human study for the treatment of Fabry disease. Eligible patients will have an autologous stem cell transplantation using CD34+ cells that are transduced with the lentivirus vector containing the human alpha-gal A gene. The researchers of this study would like to see if the re-introduction of transduced cells will help increase the levels of alpha-gal A enzyme levels and to determine the safety and toxicity of autologous stem cell transplantation using CD34+ cells transduced with lentivirus vector containing the alpha-gal A gene. This study's objective is to determine the safety and toxicity of lentivirus alpha-gal A transduced CD34+ cells in adult males with Fabry disease.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Shelly Jelinski
  • Research Associate: Josmar Alas
  • Ethics ID: REB16-0667

Fabry HCM

  • Study name: Screening for Fabry Cardiomyopathy using Cardiac Magnetic Resonance Imaging (CMR).
  • Purpose: We plan to prospectively evaluate the sensitivity and specificity of CMR to detect cases of Fabry disease through the diagnosis of new cases in patients known to have hypertrophic cardiomyopathy.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Shelly Jelinski
  • Research Associate: Josmar Alas
  • Ethics ID: REB15-0192

FOS

  • Study name: Study to Collect Data on Fabry Disease Patients With Enhanceable Alpha-Galactosidase A Activity (Fabry Outcome Survey)
  • Clinicaltrails.gov identifier: NCT00106912
  • Purpose: This study will collect data needed to design a treatment trial for patients with Fabry disease using the experimental drug AT-1001.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Connie Mohan
  • Research Associate: Josmar Alas
  • Ethics ID: REB15-0387

Fabry registry

  • Study name: Fabry Disease Registry
  • Clinicaltrails.gov identifier: NCT00196742
  • Purpose: The Fabry Registry is an ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Fabry disease, irrespective of treatment status.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Connie Mohan
  • Research Associate: Josmar Alas
  • Ethics ID: REB15-2248

Gaucher registry

  • Study name: Gaucher Disease Registry
  • Clinicaltrails.gov identifier: NCT00358943
  • Purpose: An ongoing, international multi-center, strictly observational program that tracks the routine clinical outcomes for patients with Gaucher disease, irrespective of treatment status.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Connie Mohan
  • Research Associate: Josmar Alas
  • Ethics ID: REB15-2249

Pompe registry

  • Study name: Pompe Pregnancy Sub-Registry
  • Clinicaltrails.gov identifier: NCT00567073
  • Purpose: The objective is to track pregnancy outcomes in women with Pompe Disease and to follow infants born to women with Pompe Disease.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Connie Mohan
  • Research Associate: Josmar Alas
  • Ethics ID: REB15-2276

HOS

  • Study name: Hunter Outcome Survey
  • Clinicaltrails.gov identifier: NCT00882921
  • Purpose: The objective of this study is to evaluate the effect of anti-idursulfase antibodies on idursulfase safety (measured by infusion related adverse events) between patients who develop anti-idursulfase antibodies and patients who do not after long-term idursulfase enzyme replacement therapy (ERT).
  • PI: Dr. Aneal Khan
  • Research Coordinator: Connie Mohan
  • Research Associate: Josmar Alas
  • Ethics ID: REB15-0556

SHP 609-302

  • Study name: Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Patients With Hunter Syndrome That Have Completed Study HGT-HIT-094
  • Clinicaltrails.gov identifier: NCT02412787
  • Purpose: This extension study will allow participants that completed Study HGT-HIT-094 to continue receiving Elaprase treatment in conjunction with idursulfase IT or to continue receiving Elaprase treatment and begin concurrent IT treatment for those that did not received idursulfase IT treatment in Study HGT-HIT-094.
  • PI:  Dr. Aneal Khan
  • Research Coordinator: Shelly Jelinski
  • Research Associate: Josmar Alas
  • Ethics ID: REB15-3275

MPS1 registry

  • Study name:  Mucopolysaccharidosis I (MPS I) Registry
  • Clinicaltrails.gov identifier: NCT00144794
  • Purpose: The Mucopolysaccharidosis I (MPS I) Registry is an ongoing, observational database that tracks the outcomes of patients with MPS I. The data collected by the MPS I Registry will provide information to better characterize the natural history and progression of MPS I as well as the clinical responses of patients receiving enzyme replacement therapy, such as Aldurazyme (Recombinant Human Alpha-L-Iduronidase), or other treatment modalities.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Connie Mohan
  • Research Associate: Josmar Alas
  • Ethics ID: REB15-2250

NGS LSD

  • Study name: Screening for Lysosomal Storage Disease (LSD) using a Next Generation Sequencing Approach.
  • Clinicaltrails.gov identifier: N/A
  • Purpose: We propose to utilize next generation sequencing to diagnose lysosomal storage diseases in order to establish what proportion of people suspected of having LSD were found to test positive. The ultimate goal of our project is to establish the fastest, least invasive, and most cost-effective method of diagnosing lysosomal storage diseases using next generation sequencing.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Connie Mohan
  • Research Associate: Josmar Alas
  • Ethics ID: REB16-1204

Mito NGS

  • Study name: A novel platform for diagnosing mitochondrial diseases
  • Clinicaltrails.gov identifier: N/A
  • Purpose: Providing a non-invasive approach to diagnosing mitochondrial disease using next generation sequencing.
  • PI: Dr. Aneal Khan
  • Research Coordinator: Connie Mohan
  • Research Associate: Josmar Alas                   
  • Ethics ID: REB13-0753

Urea cycle disorders:

Ravicti

  • Study name: A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders (UCDs).
  • Clinicaltrails.gov identifier: NCT02246218
  • Purpose: This is an open-label study consisting of a transition period to RAVICTI, followed by a safety extension period for at least 6 months and up to 24 months of treatment with RAVICTI, depending on age at enrollment. It is designed to capture information important for evaluating safety, pharmacokinetics and efficacy in young children.
  • PI: Aneal Khan
  • Sub-PI: Rebecca Sparkes
  • Research Coordinator: Shelly Jelinski
  • Research Associate: Josmar Alas
  • Ethics ID: REB14-1412

Small Molecule Disease:

CIMDRN

  • Study name:  Emerging Team in Rare Diseases: Achieving the “Triple Aim” for Inborn Errors of Metabolism.
  • Purpose: Understand the clinical course of disease for children with IEM from the perspectives of clinical improvement, patient/family experiences, and impact on the health care system.
  • PI: Rebecca Sparkes
  • Sub-PI: Aneal Khan
  • Research Coordinator: Connie Mohan
  • Research Associate: Josmar Alas
  • Ethics ID: REB14-1043

Devices:

Vibration therapy

  • Study name: Whole Body Vibration Therapy Project with Patients with Cerebral Palsy.
  • Purpose: To determine whether vibration therapy can be tolerated in children with cerebral palsy (CP) with impaired mobility.
  • Investigators: Aneal Khan, Chris Newell
  • Research Coordinator: Shelly Jelinski
  • Research Associate: Josmar Alas
  • Ethics ID: REB14-0997