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# Amour Fund

Amour Science Foundation

## Sitemaps

- [XML Sitemap](https://www.amourfund.org/sitemap.xml): Contains all public & indexable URLs for this website.

## Posts

- [Blog](https://www.amourfund.org/home/blog/)
- [California recognized May 16 as World CDG Awareness Day](https://www.amourfund.org/california-recognized-may-16-as-world-cdg-awareness-day/)
- [We met our goal to raise $10,000 to for CDG Research! Thank you all for your generous support, we are truly grateful. #CureCDG](https://www.amourfund.org/we-met-our-goal-to-raise-10000-to-for-cdg-research-thank-you-all-for-your-generous-support-we-are-truly-grateful-curecdg/) - We met our goal to raise $10,000 to for CDG Research! Thank you all for your generous support, we are truly grateful. #CureCDG pic.twitter.com/gA4Rx9UVKh — Amour Fund (@AmourFund) March 13, 2017
- [Aram just hanging out in his new ride at the NAPA Center](https://www.amourfund.org/aram-just-hanging-out-in-his-new-ride-at-the-napa-center/) - Aram just hanging out in his new ride. A post shared by NAPA Center (@napacenter) on Sep 22, 2015 at 2:57pm PDT
- [Everyone likes bubbles in the ball pit.](https://www.amourfund.org/everyone-likes-bubbles-in-the-ball-pit/) - List knows it takes a lot of bubbles and enthusiasm to be a speech therapist. This queen of the ball pit recommends talking as much as possible with your kids throughout their day to encourage and foster language growth. From getting ready to go to school to grocery shopping, it's important to always be talking!
- [Los Angeles recognized May 16 as World CDG Awareness Day](https://www.amourfund.org/los-angeles-recognized-may-16-as-world-cdg-awareness-day/) - Los Angeles recognized May 16 as World CDG Awareness Day. California bill is next. #CureCDG pic.twitter.com/LnypDSJvFh — Amour Fund (@AmourFund) February 21, 2017
- [PUBLISHED: Clinical, laboratory & molecular findings & long-term follow-up data in 96 French patients with PMM2-CDG](https://www.amourfund.org/published-clinical-laboratory-molecular-findings-long-term-follow-up-data-in-96-french-patients-with-pmm2-cdg/) - PUBLISHED: Clinical, laboratory & molecular findings & long-term follow-up data in 96 French patients with PMM2-CDGhttps://t.co/ecZEUnkhA3 pic.twitter.com/7swzMgcj4h — Amour Fund (@AmourFund) October 19, 2017
- [Designing a Treatment for PMM2-CDG](https://www.amourfund.org/designing-a-treatment-for-pmm2-cdg/) - Designing a Treatment for PMM2-CDG https://t.co/SAmc5m5wjR via @YouTube — Amour Fund (@AmourFund) May 17, 2017
- [Amour Fund Accomplishments in 2017](https://www.amourfund.org/amour-fund-accomplishments-in-2017/) - Amour Fund - https://t.co/6BIrxObuq1 — Amour Fund (@AmourFund) December 27, 2017
- [Aram trying hard at NAPA Center](https://www.amourfund.org/aram-trying-hard-at-napa-center/) - With just a little encouragement from dad, Aram knocked the bowling pins down! #strike A post shared by NAPA Center (@napacenter) on Jun 23, 2016 at 11:49am PDT
- [Aram is the "Kid of the Week" at NAPA Center](https://www.amourfund.org/aram-is-the-kid-of-the-week-at-napa-center/) - Aram can get into a sitting position all by himself, which makes cruising around in his new ride a breeze. He loves waving goodbye and giving big hugs to his favorite people, mom and #Elmo. It's been amazing to see Aram grow into one cool little dude with newfound strength and confidence. A post shared
- [Aram taking a brake at NAPA Center](https://www.amourfund.org/aram-taking-a-brake-at-napa-center/) - When you just want to play with your therapist but everyone else is begging for just one more picture. #workhardplayhard #nopicturesplease #funfridayphoto A post shared by NAPA Center (@napacenter) on May 6, 2016 at 11:47am PDT
- [Aram at NAPA Center with his "Ninja Suit"](https://www.amourfund.org/160-2/) - Lauren knows that anything with wheels makes Aram smile. Also, we see you Geoff trying to play in the kids swing again...???? A post shared by NAPA Center (@napacenter) on Sep 9, 2016 at 1:37pm PDT
- [NAPA Center gets a visit from Santa](https://www.amourfund.org/ho-ho-ho/) - A word from Santa. A post shared by NAPA Center (@napacenter) on Dec 21, 2017 at 11:12am PST

## Pages

- [Home](https://www.amourfund.org/) - Amour Science Foundation
- [Clinical Trials](https://www.amourfund.org/research/clinical-trials/) - This is one stop shop for all clinical trial for PMM2 deficiency (PMM2-CDG) that patients can enroll in to help finding a cure for CDG.
- [CDG Patient Registry](https://www.amourfund.org/patient-registry/) - Why the RDCRN Contact Registry? The Rare Diseases Clinical Research Network (RDCRN) is a national network of top rare diseases researchers, powered by patient partnerships and funded by the National Institutes of Health. The RDCRN Contact Registry collects and stores the contact information of people who want to participate in RDCRN-sponsored research or learn more
- [CDG Children's Book](https://www.amourfund.org/home/cdg-childrens-book/) - To purchase a copy of "A.Z.'s Adventures to the Sugar Tree Forest" please see below. Story The storyline features the adventures of a little boy on a quest to collect “glycan fruit”, which his body needs to remain healthy and happy. Along the way, he and friends find the solutions they need to reach the
- [About](https://www.amourfund.org/home/about/) - What is PMM2-CDG? PMM2 deficiency or PMM2-CDG is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disorder. A defective copy of the PMM2 gene is the most common cause of a disease called “congenital disorders of glycosylation” or “PMM2-CDG”. PMM2-CDG is the most common of a growing family of more than 100 extremely rare
- [Research Papers](https://www.amourfund.org/research/research-existing-pmm2-related-research-papers/) - Existing PMM2-Related Research Papers Sorbitol is a-severity biomarker for PMM2 CDG with therapeutic implications D-galactose supplementation in individuals with PMM2-CDG Should patients with PMM2-CDG be screened for adrenal insufficiency Towards a therapy for PMM2 Deficiency Socio-emotional Problems in Children with CDG Pharmacological-Chaperoning-A-Potential-Treatment Nutritional Therapies in CGDC Successful prenatal mannose treatment for PMM2-CDG in mice Mutations
- [COVID-19](https://www.amourfund.org/cdg-and-covid-19/) - COVID-19 and CDG Video
- [CDG COVID-19 Vaccine Recommendations for Adults](https://www.amourfund.org/cdg-and-covid-19/recommendations-for-covid-19-vaccine/) - The recommendation by CDG experts is for CDG patients, parents and caregivers to get the COVID-19 vaccine. Source: GCDGC CDG-COVID-Vaccine-Recommendation_Adults-2Download
- [World CDG Statement on COVID-19 Outbreak](https://www.amourfund.org/cdg-and-covid-19/statement-on-covid-19/) - WHAT DO WE KNOW? Congenital disorders of glycosylation (CDG) are a family of complex metabolic diseases. Known CDG population is mostly pediatric. COVID-19 is a newly identified virus causing flu-like and respiratory infection (and, in severe cases pneumonia) symptoms. Less frequently, gastrointestinal manifestations (e.g. diarrhea) may occur. Although data is still scarce, some vulnerable (“high
- [Guidance on COVID-19 for CDG Patients and Families](https://www.amourfund.org/cdg-and-covid-19/guidance-on-covid-19/) - During these unprecedented times, patients and families have many questions about the potential risks of Coronavirus, especially as communities consider reopening workplaces, schools, and other activities. There is much still uncertain about risks for all people and it is not known if people with CDG are at a higher risk either of contracting COVID-19 or
- [Video](https://www.amourfund.org/video/)
- [Research](https://www.amourfund.org/research/) - Ongoing research is critical to learning more about this rare disease, and to eventually find a potential treatment. The following pages provide links to existing PMM2-CDG research papers, clinical trials and summarize current research efforts.
- [News](https://www.amourfund.org/home/sample-page/) - FDA Grants AT-007 Pediatric Rare Disease Designation and Orphan Designation for Treatment of PMM2-CDG Applied Therapeutics, Inc. (Nasdaq: APLT), a clinical-stage biopharmaceutical company developing a pipeline of novel drug candidates against validated molecular targets in indications of high unmet medical need, announced today that the U.S. Food and Drug Administration (FDA) has granted AT-007 both Pediatric Rare Disease Designation
- [Resources](https://www.amourfund.org/resources/) - There are several resources available to help parents learn more about PMM2-CDG, and about how their child is impacted. The following pages provide links to existing resources, social media groups, registries, research centers, therapy centers and and CDG clinics. Websites NORD Rare Disease Information – PMM2-CDG NIH information on Congenital disorders of glycosylation Organizations Frontiers in Congenital
- [Donor Dashboard](https://www.amourfund.org/donor-dashboard/)
- [CDG Clinics](https://www.amourfund.org/resources/cdg-clinics/) - United States Children's Hospital New Orleans / Tulane University Medical CenterNew Orleans, Louisiana, United States Hans Andersson, MD 504-988-5101 handers@tulane.eduHeley Severin, Study Coordinator 504-988-0653 hseverin1@tulane.edu Mayo Clinic in RochesterRochester, Minnesota, United States Eva Morava-Kozicz, MD, PhD 507-266-2967 Morava-Kozicz.Eva@mayo.eduKailtin Schwartz, B.S. 507-293-9114 Schwartz.kaitlin@mayo.eduSuzy Boyer, RDN, LD 507-266-2967 boyer.suzanne@mayo.edu Children's Hospital of Philadelphia Philadelphia, Pennsylvania, United States
- [Mouse Model](https://www.amourfund.org/research/mouse-model-2/) - Amour Fund is proud to partner with Dr. Edmondson of Children’s Hospital of Philadelphia and Dr. Zhaolan Zhou of the University of Pennsylvania in the Establishment of a Personalized Mouse Model of PMM2-CDG. The project has been successful in generating compound heterozygote mice with floxed PMM2, and knock-in allele of the most common patient-specific PMM2-CDG
- [CDG Map](https://www.amourfund.org/resources/cdg-map/)

## Categories

- [Uncategorized](https://www.amourfund.org/category/uncategorized/)