RESOURCES
RCDP Links
https://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata
https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1
http://rimuhc.ca/-/nancy-braverman-md-m-sc-
FDA and nih Resources
A high-level overview of the FDA's drug development process. Link
FDA's main page for information specifically on orphan drug development. Link
FDA's Office of Orphan Products Development Page. Link
NIH information on clinical trials. Link
NIH information on patient registries. Link
NIH glossary of common terms. Link
NIH information on clinical trials involving children. Link
Videos
In July 2023, MLD presented a talk at the Rhizokids Family Conference in Alabama explaining the regulatory requirements around the FDA’s regulation process for supplements. The presentation was so well-received we were asked to make it publicly available, so here is the re-recorded version. Relevant links to content referenced during the presentation are below:
FDA NDI Guidance - Draft Guidance for Industry: New Dietary Ingredient Notifications and Related Issues | FDA
FTC Health Products Compliance Guide - Health Products Compliance Guidance (ftc.gov)
Reporting to FDA:
Safety Reporting – How to Report a Problem with Dietary Supplements | FDA
Consumer Complaints- Consumer Complaint Coordinators | FDA
Serious Adverse Events Reporting Portal - Safety Reporting Portal (hhs.gov)
Report Unlawful Sale of Drugs - Reporting Unlawful Sales of Medical Products on the Internet | FDA
Reporting to FTC:
Health Product Fraud - ReportFraud.ftc.gov
A short commentary on the importance of patient engagement in the development of therapies for rare diseases. By Jeffrey Sherman, MD, FACP, chief medical officer of Horizon Pharma.
Insight from Chris Garabedian, former CEO of Sarepta Therapeutics on the importance of communication between patient advocacy groups and drug company's and regulatory agencies in the orphan drug space.
An introductory video discussing patient registries and how they can be used to understand the disease and advance potential treatments.
Introductory video on the process of discovering, developing and testing new potential therapy and the role patients can play in this process.
A video in which Steve Kaminsky the former CSO of Rettsyndrome.org discussed the importance of a Natural History Study in rare diseases.
Janet Woodcock, MD, in her former role as Director of the Center for Disease Evaluation and Research at the FDA discussed the increasing role of patients and advocates in the development of orphan drugs. She also discussed how the FDA approaches the need for flexibility in clinical trial designs in rare diseases.
Relevant Publications
Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata, 2020. PubMed Link
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update, 2020. PubMed Link
Disturbed neurotransmitter homeostasis in ether lipid deficiency, 2019. PubMed Link
Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment, 2019. PubMed Link
Structural and functional roles of ether lipids, 2018. PubMed Link
Role of peroxisomes in human lipid metabolism and its importance for neurological development, 2018. PubMed Link
From peroxisomal disorders to common neurodegenerative diseases – the role of ether phospholipids in the nervous system, 2017. PubMed Link
Growth charts for individuals with rhizomelic chondrodysplasia punctata, 2017. PubMed Link
Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction, 2017. PubMed Link
Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata, 2017. PubMed Link
Peroxisome biogenesis disorders, 2016. PubMed Link
Congenital heart defects common in rhizomelic chondrodysplasia punctata, 2016. PubMed Link
Peroxisomes in brain development and function, 2016. PubMed Link
Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjogren-Larsson syndrome, 2015. PubMed Link
Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene, 2015. PubMed Link
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform, 2015. PubMed Link
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1, 2015. PubMed Link
Alkylglycerone phosphate synthase (AGPS) deficient mice: models for rhizomelic chondrodysplasia punctate type 3 (RCDP3) malformation syndrome, 2014. PubMed Link
Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination, 2014. PubMed Link
A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency, 2014. PubMed Link
The neurology of rhizomelic chondrodysplasia punctata, 2013. PubMed Link
Rhizomelic chondrodysplasia punctata and cardiac pathology, 2013. PubMed Link
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3, 2012. PubMed Link
The importance of ether-phospholipids: a view from the perspective of mouse models, 2012. PubMed Link
Impaired neurotransmission in ether lipid-deficient nerve terminals, 2012. PubMed Link
Functions of plasmalogen lipids in health and disease, 2012. PubMed Link
In vitro and in vivo plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor, 2011. PubMed Link
Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice, 2011. PubMed Link
Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice, 2011. PubMed Link
A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton, 2010. PubMed Link
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata, 2006. PubMed Link
Functions and biosynthesis of plasmalogens in health and disease, 2004. PubMed Link
Natural history of rhizomelic chondrodysplasia punctata, 2003. PubMed Link
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice, 2003. PubMed Link
Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata, 2003. PubMed Link
Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1, 2002. PubMed Link
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype, 2002. PubMed Link
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor, 1997. PubMed Link
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor, 1997. PubMed Link
Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata, 1997. PubMed Link
Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder, 1994. PubMed Link
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder, 1992. PubMed Link