Association for Creatine Deficiencies (ACD)
Amicus Brief to support newborn screening
Safeguard children born with treatable, yet difficult to diagnose disorders.
Posted August 5, 2024
Background & Context
I am a nonprofit leader and parent of two children affected by a rare disorder that results in intellectual disability and epilepsy if left untreated. If diagnosed at birth, this disorder is treated with oral creatine supplementation and results in neurotypical outcomes! Newborn screening is a health initiative that saves hundreds of babies each year and under fire by misinformed parents. The state of New Jersey is defending their storage of these samples and I would like to submit an amicus brief in support of the state.
Immediate Problem
Submit amicus brief in New Jersey
Work & Deliverables
I would like to file an amicus brief in New Jersey. I've been in touch with the Assistant Attorney general, I have a draft of the brief. I need help reviewing and submitting.
Preparation Phase
- Schedule a Zoom
- Review draft brief
- Review plaintiff submitted complaint
Collaboration Phase
- Advise on improvement of brief
- Format brief to meet requirements of New Jersey
Wrap Up
- Submit brief
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Association for Creatine Deficiencies (ACD)
Our mission is to provide patient, family, and public education, to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for Cerebral Creatine Deficiency Syndromes (CCDS). ACD awards research grants to promising projects and encourages collaboration between research labs. We also contract research for specific projects we believe have high translational value. A late diagnosis of one type of CCDS, GAMT, means a lifetime of intellectual disability and seizures. A diagnosis at birth prevents those impacts and allows patients to live a full life. We nominated GAMT deficiency for the federal Recommended Uniform Screening Panel in 2016 and were finally approved by the Secretary of Health and Human Services in 2023. We are now focused on individual states adding GAMT to their newborn screening panels.
Association for Creatine Deficiencies (ACD)
Our mission is to provide patient, family, and public education, to advocate for early intervention through newborn screening, and to promote and fund medical research for treatments and cures for Cerebral Creatine Deficiency Syndromes (CCDS). ACD awards research grants to promising projects and encourages collaboration between research labs. We also contract research for specific projects we believe have high translational value. A late diagnosis of one type of CCDS, GAMT, means a lifetime of intellectual disability and seizures. A diagnosis at birth prevents those impacts and allows patients to live a full life. We nominated GAMT deficiency for the federal Recommended Uniform Screening Panel in 2016 and were finally approved by the Secretary of Health and Human Services in 2023. We are now focused on individual states adding GAMT to their newborn screening panels.