RCDP Links


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




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, 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 CSO of discusses the importance of a Natural History Study in rare diseases.


Janet Woodcock, MD, Director of the Center for Disease Evaluation and Research at the FDA discusses the increasing role of patients and advocates in the development of orphan drugs. She also discusses how the FDA approaches the need for flexibility in clinical trial designs in rare diseases.  


Relevant Publications

  • 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