Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy

Treatments for Mucopolysaccharidosis IVA (MPS IVA, also called Morquio syndrome type A) by enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are limited in efficacy depending on the age of initiation and clinical phenotype. Thus, this study aims to assess the effects of treatments on MPS IVA patients compared to untreated MPS IVA patients and an age-matched control group.

The full article can be viewed here.

Lasting Lessons from the Pandemic: Advancing the Understanding of Special Education and Therapeutic Needs of Children with Neurodegenerative Disorders – special white paper for review

Check out this important discussion:

When the COVID-19 pandemic halted in-person instruction, educators, therapists, and parents faced unprecedented challenges as they sought to maintain the delivery of educational and therapeutic services. Without any kind of model, new methods of delivering special education and therapeutic services arose out of necessity: Educators and therapists faced the burden of learning in the moment. The abrupt transition to distance delivery presented a unique challenge for children with neurodegenerative conditions who require consistent and intensive instruction and treatment to maintain their fragile skills. This brief is designed for educators and therapists who play a critical role in protecting the neurocognitive function and quality of life of children with neurodegenerative conditions.

To learn more about these issues in depth , review the white paper available HERE.

Experts’ views on COVID-19 vaccination and the impact of the pandemic on patients with Gaucher disease

The current outbreak of the novel severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), causing coronavirus disease 2019 (COVID-19), has become a worldwide pandemic with high morbidity and mortality in individuals with chronic disorders.1 The pandemic introduced many unanticipated challenges for patients with chronic and rare diseases, such as Gaucher disease (GD).2 GD is the most common inborn error of metabolism, caused by biallelic glucosylceramidase beta (GBA) variants and affecting the recycling of cellular glycolipids; GD manifests as hepatosplenomegaly, thrombocytopenia, anaemia and bone disease.3

The entire article is available here.

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease – new PubMed article!

Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.Thompson-Stone R, Ream MA, Gelb M, Matern D, Orsini JJ, Levy PA, Rubin JP, Wenger DA, Burton BK, Escolar ML, Kurtzberg J.Mol Genet Metab. 2021 Apr 3:S1096-7192(21)00083-4. doi: 10.1016/j.ymgme.2021.03.016. Online ahead of print.PMID: 33832819 

Excerpt – “Objective: to provide updated evidence and consensus-based recommendations for the classification of individuals who screen positive for Krabbe Disease (KD) and recommendations for long-term follow-up for those who are at risk for late onset Krabbe Disease (LOKD).

Read the full text of the article here.

Sanfilippo Children’s Foundation 2021 grants round opens February 24, 2021

The Sanfilippo Children’s Foundation is now accepting Expressions of Interest for their 2021 Grants Round.

Important dates:
– Wednesday 24 February: Grant round opens (Expression of Interest application forms will be made available on our website)
– Wednesday 24 March: Expression of Interest due

The Sanfilippo Children’s Foundation is particularly interested in three focus areas:
– halt disease progression through therapies such as enzyme replacement, gene therapy and cell therapy and strategies to enhance the effectiveness of such emerging therapies
– repair and reverse the cell damage caused by Sanfilippo Syndrome, which could include the application of neuroregeneration advances made for other neurodegenerative diseases
– improve quality of life through palliative care and symptom management specific to Sanfilippo Syndrome

More information about our research strategy and funding program can be found on our website:

The purpose of the Sanfilippo Children’s Foundation is to drive research for a world without Sanfilippo Syndrome.

This will be achieved by:

  • Funding research which might halt progression of the condition, reverse damage caused or improve quality of life for patients with the condition;
  • Providing clear, accurate and up-to-date information to diagnosed families regarding the disease, therapeutic avenues and current research programs;
  • Raising awareness of the disease amongst the community, including the medical profession;
  • Advocating for improved outcomes for the Sanfilippo patient community;
  • Improving the diagnosis path – more accurate and earlier diagnosis to enable appropriate treatment.

Research suggests mucopolysaccharidosis patients may be less vulnerable to COVID-19

Researchers at the University of Gdańsk, Poland have conducted tests that show certain genes in the DNA of MPS patients render their cells less susceptible to COVID-19 infection than normal cells, though the typical – for storage diseases – narrowing of the respiratory tract and presence of thick mucous are still risk factors for infection. The full text of the article is available here

Recent research reviews the impact of COVID-19 on lysosomal disease patients

Recent research from Italy reviews the impact of COVID-19 on patients with lysosomal disease, in a manuscript titled “Impact of COVID-19 related healthcare crisis on treatments for patients with lysosomal storage disorders, the first Italian experience” published in the journal Molecular Genetics & Metabolism. The complete text of the article is available here.

10 present and former LDN members to present latest research at WORLDSymposium

Present and former LDN Members will present a series of studies and insights relating to lysosomal diseases at the 16th annual WORLDSymposium to be held from February 10-13, 2020 in Orlando, Florida. WORLDSymposium is designed to help researchers and clinicians to better manage and understand diagnostic options for patients with lysosomal diseases, identify areas requiring additional basic and clinical research, public policy and regulatory attention, and identify the latest findings in the natural history of lysosomal diseases.

  1. Behzad Najafian, LDN Project PI (2:30 pm Monday) to present “Podocyte globotriaosylceramide (GL-3) content in female adult patients with Fabry disease and amenable mutations reduces following 6 months of treatment with migalastat”
  2. Sarah Kim, LDN Fellow, (4:00 pm Monday) to present “Quantification of cerebrospinal fluid chitotriosidase in a clinical laboratory is validated for use in diagnosis and clinical trials”
  3. LI Ou, LDN Fellow (1:15 pm Tuesday) to present “Liver-targeting gene editing achieves significant neurological benefits in MPS I mice”
  4. Paul J.Orchard, LDN Project Co-PI (2:25 pm Tuesday) to present “High dose hematopoietic stem cell transplantation leads to rapid hematopoietic and microglial recovery and disease correction in a mouse model of Hurler syndrome”
  5. Ankit Desi, LDN Fellow and Project Co-PI (3:45 pm Tuesday) to present “Benefits of prophylactic short-course immunomodulation in patients with infantile Pompe disease: Demonstration of long-term safety and efficacy in a large cohort”
  6. Raymond Wang, former LDN Project PI (3:30 pm Wednesday) to present “Long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis type VII”
  7. Marc Patterson, former LDN Project PI, LDN Education Core Director (4:15 pm Wednesday) to present “Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment”
  8. Raffi Schiffmann, LDN Project PI (9:15 am Thursday) to present “Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3”
  9. Stephanie Austin, LDN Project Co-PI (10:45 am Thursday) to present “Extended treatment with VAL-1221, a novel protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease”
  10. Paul Harmatz, LDN Project site PI (11:00 am Thursday) to present “A new randomized placebo controlled study to establish the safety and efficacy of velmanase alfa (human recombinant alpha-mannosidase) enzyme replacement therapy for the treatment of alpha-mannosidosis”