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Research Opportunities

Participate in a Research Study

Scientists, clinicians and patient advocacy groups around the world are conducting research studies to better understand CDG, patient and family experiences and develop treatments. Your participation in research is essential to accelerating scientific discoveries, informing future treatments and improving patient care.

Discover ongoing CDG research studies and participate today!

If you are a clinician, researcher or patient advocacy group conducting a research study and would like to promote it on CDG Hub, please Contact Us.

  • CDG Type(s): All CDG types or NGLY1-CDDG with a confirmed diagnosis
  • Study Type: Data Collection Survey
  • Location: Online
  • Status: Active

As a parent or caregiver of a child diagnosed with CDG or NGLY1-deficiency, you may have experienced that your child is growing differently than an unaffected developing child. You or your child’s providers may have noted the difficulty of interpreting your child’s growth when using the existing reference growth charts which are different from the specific growth patterns of children with CDG or NGLY1.

In collaboration with the Frontiers in CDG Consortium (FCDGC) Research Team, CDG Care is developing a CDG/NGLY1 specific growth chart that can be used as a reference for families and clinicians to monitor growth. These charts will also be used to track response to therapy, as normative data for growing children with CDG or NGLY1 can help guide treatment decisions and evaluate the effectiveness of new treatments in clinical trials.

Data will be collected for the study through June 2022.

Learn more about this important opportunity by visiting the study page or contact CDG CARE at info@cdgcare.org with any questions.

View Study Website
  • CDG Type(s): All CDG types
  • Study Type: Data collection Surveys
  • Location: Online
  • Status: Active

World CDG Organization is conducting an international CDG journey mapping study to understand the experiences and needs of people living with CDG and their families. All individuals living with CDG, families, caregivers and ANGEL families are invited to participate in the study.

The objective of the study is to answer questions such as:

  • What are the concerns, priorities, needs, and expectations when living with CDG?
  • Which symptoms have a major impact on their quality of life?
  • What are the current CDG care and management strategies?
  • What does it mean to live with the disease?

Data is collected through two online questionnaires which are available in English, Dutch, French, German, Italian, Portuguese and Spanish.

View Study Website
  • CDG Type(s): N-linked CDG types
  • Study Type: Newborn screening blood spot card collection
  • Location: United States
  • Status: Active

In collaboration with CDG patient association partners, the Frontiers in CDG Consortium (FCDGC) is conducting a feasibility study for new born screening of N-linked CDG types. The deadline for participation is December 31, 2022

This research opportunity is open to all families in the United States who have a confirmed diagnosis of an N-linked glycosylation disorder (see here for a list of all N-linked CDG types). Children/young adults of any age can participate if they were born in one of the following states: California, New Jersey or New York.  For all remaining States, in order to be eligible to participate, the age of the child diagnosed with CDG must be < 2 years old. Parents/Caregivers will be guided through filling out the required forms to have their child’s newborn screening blood spot cards sent in for research analysis. No new blood collection is necessary.

Families who meet the eligibility criteria and are interested in participating can contact the research team:

Email: Dr. Miao He, Research Team coordinator Research Team; Hem@chop.edu
Phone:  leave a voicemail at 215-590-1177

 

View Study Website