The FoG

Foundation Glycosylation

The FoG is a proud sponsor of the OGT Conference 2024

The OGT Conference 2024 will bring together top researchers, clinicians, and professionals from around the globe to explore the latest advancements in the fields of O-GlcNAc Transferase X-Linked Intellectual Disability (also known as OGT-CDG). This premier event will provide an unparalleled platform to discuss cutting-edge research, potential novel therapies, and innovative technologies that are shaping the future of OGT-XLID treatment and diagnosis.

Conference link: OGT-CDG Conference Nov 9, 2024 – Cure OGT

Website link: Cure OGT


THANK YOU CDG CARE for having shared this exciting information!

Phase III clinical trial of pediatric subjects with PMM2-CDG begins crossover to open label epalrestat

STURGIS, Mich., March 18, 2024 - Maggie's Pearl, a collaboration between Perlara, Maggie's Cure, and the Mayo Clinic, announced that the Phase III trial of oral epalrestat therapy in pediatric subjects with PMM2-CDG (formerly, Congenital Disorder of Glycosylation Type 1a) has been green-lighted to transition to open label. All study subjects on placebo may transition to open label epalrestat at their 15-month study visit. The principal investigator, study team, participants, and their families remain blinded to original treatment assignments until all subjects reach their 15-month visit.

The crossover recommendation was unanimous among an independent three-member data monitoring committee, comprising two physician scientists with PMM2 expertise and a biostatistician. The DMC concluded the planned interim analysis and determined that the trial can proceed safely. They recommended that each study participant continue with their randomly assigned treatment until the 15-month visit, when they can transition to open label epalrestat.

Administered by the Mayo Clinic, the clinical trial is a prospective, single-center, randomized, double-blind, placebo-controlled study. In December 2021, the Food and Drug Administration notified Maggie's Pearl that the Phase III clinical trial in 40 patients with PMM2-CDG could proceed. The trial recruited 38 study subjects and closed enrollment in November 2023. The first 29 participants will complete their 15-month visits over the next 2-3 months.

PMM2-CDG (phosphomannomutase-2-congenital disorder of glycosylation) is caused by mutations in a gene that supplies the instructions for making the PMM2 enzyme. The enzyme is involved in a process called glycosylation, in which sugar chains are created, altered, and chemically attached to specific proteins to form glycoproteins. Those proteins are key to normal growth and function of tissues and organs. No approved treatment options exist for patients with PMM2-CDG.

"The DMC recommendation to allow study participants to receive epalrestat upon completing 15 months of randomized treatment is very encouraging," said Ethan Perlstein, CEO of Maggie's Pearl. "We can't thank participating families enough. They are medical pioneers and an example for all rare disease communities of what is possible despite the hardships of a placebo-controlled study. We look forward to opening discussions with FDA in the coming months to make epalrestat widely available for all PMM2-CDG families."

The primary study objective is to evaluate the safety and probable benefit of oral epalrestat therapy in pediatric subjects with PMM2-CDG. More at: clinicaltrials.gov/ct2/show/NCT04925960.

About Maggie's Pearl:

Established in August 2020, Maggie's Pearl LLC is a joint venture between Perlara, Maggie's Cure, and the Mayo Clinic to identify potential drug therapies to treat and improve the lives of PMM2-CDG patients. Maggie's Pearl was inspired by Maggie Carmichael, a 10-year-old girl from Sturgis, Michigan, who was diagnosed with PMM2-CDG at eight months of age. At that time, Maggie's parents were told there was no treatment for the rare, and potentially fatal, genetic disease. Globally, roughly 1,000 people are known to have PMM2-CDG. Learn More at www.maggiespearl.com

Phase III clinical trial of pediatric subjects with PMM2-CDG begins crossover to open label epalrestat

STURGIS, Mich., March 18, 2024 - Maggie's Pearl, a collaboration between Perlara, Maggie's Cure, and the Mayo Clinic, announced that the Phase III trial of oral epalrestat therapy in pediatric subjects with PMM2-CDG (formerly, Congenital Disorder of Glycosylation Type 1a) has been green-lighted to transition to open label. All study subjects on placebo may transition to open label epalrestat at their 15-month study visit. The principal investigator, study team, participants, and their families remain blinded to original treatment assignments until all subjects reach their 15-month visit.

The crossover recommendation was unanimous among an independent three-member data monitoring committee, comprising two physician scientists with PMM2 expertise and a biostatistician. The DMC concluded the planned interim analysis and determined that the trial can proceed safely. They recommended that each study participant continue with their randomly assigned treatment until the 15-month visit, when they can transition to open label epalrestat.

Administered by the Mayo Clinic, the clinical trial is a prospective, single-center, randomized, double-blind, placebo-controlled study. In December 2021, the Food and Drug Administration notified Maggie's Pearl that the Phase III clinical trial in 40 patients with PMM2-CDG could proceed. The trial recruited 38 study subjects and closed enrollment in November 2023. The first 29 participants will complete their 15-month visits over the next 2-3 months.

PMM2-CDG (phosphomannomutase-2-congenital disorder of glycosylation) is caused by mutations in a gene that supplies the instructions for making the PMM2 enzyme. The enzyme is involved in a process called glycosylation, in which sugar chains are created, altered, and chemically attached to specific proteins to form glycoproteins. Those proteins are key to normal growth and function of tissues and organs. No approved treatment options exist for patients with PMM2-CDG.

"The DMC recommendation to allow study participants to receive epalrestat upon completing 15 months of randomized treatment is very encouraging," said Ethan Perlstein, CEO of Maggie's Pearl. "We can't thank participating families enough. They are medical pioneers and an example for all rare disease communities of what is possible despite the hardships of a placebo-controlled study. We look forward to opening discussions with FDA in the coming months to make epalrestat widely available for all PMM2-CDG families."

The primary study objective is to evaluate the safety and probable benefit of oral epalrestat therapy in pediatric subjects with PMM2-CDG. More at: clinicaltrials.gov/ct2/show/NCT04925960.

About Maggie's Pearl:

Established in August 2020, Maggie's Pearl LLC is a joint venture between Perlara, Maggie's Cure, and the Mayo Clinic to identify potential drug therapies to treat and improve the lives of PMM2-CDG patients. Maggie's Pearl was inspired by Maggie Carmichael, a 10-year-old girl from Sturgis, Michigan, who was diagnosed with PMM2-CDG at eight months of age. At that time, Maggie's parents were told there was no treatment for the rare, and potentially fatal, genetic disease. Globally, roughly 1,000 people are known to have PMM2-CDG. Learn More at www.maggiespearl.com

THANK YOU CDG CARE for having shared this exciting information!

CDG FAMILY CONFERENCE

The FoG is proud to have been a PLATINUM SPONSOR for the Sanford Burnham Prebys Rare Disease Day Symposium & CDG Family Conference, which was held on March 1, 2024.

For more information about the symposium, CLICK HERE.

Fou

Fou

Foundation Glycosylation is proud to have been a

Gold Sponsor for The 6th World Conference on CDG.

CDG HUB

Visit the CDG Hub's latest newsletter.


CDG CANADA


We invite you to visit the website for CDG Canada.

CDG CARE 


We invite you to visit

the website for CDG Care

and the CDG Care Newsletter for October 2024

PORTUGESE CDG


We invite you to visit the website of The Portuguese Association for CDG.

Sanford Burnham Prebys. 


We invite you to watch this interesting video with Hudson Freeze, Ph.D of Sanford Burnham Prebys.

CONTACT

Foundation Glycosylation

Saint John Regional Hospital Foundation

Level One, Saint John Regional Hospital

400 University Avenue

P.O. Box 2100

Saint John, New Brunswick, Canada

E2L 4L2

DONATE NOW

The FoG, a local not-for-profit, supports research on the development of therapies targeting Congenital Disorders of Glycosylation (CDG), helps raise awareness of the disorder, and advocates for individuals living with these rare enzyme deficiencies.