Lysosomal Disease Network Request for Proposals (RFP)

The Lysosomal Disease Network (LDN) has issued a Request for Proposals (RFP) for studies aiming to participate in the competitive re-application to the National Institutes of Health “Rare Diseases Clinical Research Network” program. Details are provided in this document.

A Letter of Intent (LOI), with outline (a brief outline addressing proposed elements of the standard NIH PHS 398 form), is due at the LDN office not later than 5:00 p.m. on January 1, 2018. Investigators will receive a response from the LDN to their LOI and brief outline mid-January. Completed outlines of applications are due by January 30, 2018. On February 9, 2018, a “Pitch Meeting” will occur at the LDN Expert Advisory Committee gathering at the Manchester Grand Hyatt San Diego Hotel, San Diego, California, USA. At that time each applicant will deliver an oral presentation of their proposal to the LDN Expert Advisory Committee.

The LDN strongly urges all interested researchers to take advantage of this NIH funding opportunity.

Lysosomal Disease Network’s
Council of
Patient Advocates
2018 Meeting

The Lysosomal Disease Network’s Council of Patient Advocates (“COPA”) will convene their 2018 meeting on Monday morning, February 5, 2018. The COPA meeting will be held at the Manchester Grand Hyatt San Diego Hotel in San Diego, California, which is also the venue for WORLDSymposium™ 2018. The COPA meeting is open to patients, their family members/caregivers, and patient advocacy group representatives who desire an active role in partnering with the LDN to provide input to patient-focused studies and clinical trials. There is no cost to attend this meeting. Patients, their family members/caregivers, and patient advocacy group representatives are invited to RSVP between now and January 25, 2018.

The Lysosomal Disease Network Awards LDN Fellow for 2017-2018

The Lysosomal Disease Network (LDN) is pleased to announce that it has selected Laura Adang, MD, PhD of The Children’s Hospital of Philadelphia for a fellowship that provides $50,000 for lysosomal disease clinical research. Her research project is entitled “Metachromatic leukodystrophy: characterization of genetic mutations, age of onset, and clinical subtypes.” Dr. Adang’s mentor for this project is Dr. Adeline Vanderver, also with The Children’s Hospital of Philadelphia. Dr. Adang’s fellowship period is August 1, 2017 – July 31, 2018. Click here for more information about the LDN’s fellowship opportunities.

Laura Adang, MD, PhD

Laura Adang, MD, PhD

The project is a multi-center retrospective natural history study to characterize the disease course in patients affected by metachromatic leukodystrophy (MLD). It will use statistical modeling to analyze collected clinical data to classify distinct subpopulations within the heterogeneous MLD population. Ultimately, it will evaluate the correlation and distinctions between the subpopulations with respect to genetic, radiographic, and ancillary clinical phenotypes, including gallbladder and renal involvement. Dr. Adang said the project goals include “validating or possibly redefining the clinical subtypes of metachromatic leukodystrophy. This can be used to design future studies and therapeutic trials. Importantly, with a better understanding of metachromatic leukodystrophy, we will be able to offer our families better anticipatory guidance, establish appropriate standards of care, and design better future therapeutic trials.”

Dr. Marc Patterson, Director, Education Core of the Lysosomal Disease Network, said “The Lysosomal Disease Network looks forward to a very productive research project, and wishes Dr. Adang the greatest success in achieving the goals of this research project, with a peer-reviewed publication summarizing the findings. Dr. Adang will also participate in the NIH-funded RDCRN Rare Disease Clinical Research Training Program, which is also open to new clinical investigators.”

A Rare Opportunity for
Young Researchers:
The Rare Disease
Clinical Research
Training Program

The Rare Diseases Clinical Research Network (RDCRN) annually offers rare disease researchers this excellent training and networking opportunity. This is available to researchers associated with one of the RDCRN’s research consortia. (The Lysosomal Disease Network is one such RDCRN consortium.)

This year-long course consists of both in-person and remote sessions providing the tools and mentorship needed for a successful career in rare diseases clinical research. Topics include: statistics in small populations, interactions with industry and pharmaceutical companies, successful grant writing, working with patient and family advocates and groups, research career design and planning, and successful publishing in rare diseases.

Participation requires a 10% time-commitment from the applicant’s program chair or department chair for the applicant’s dedicated, focused research time. In addition, the program requires: two 2-day trips to the Washington, D.C. area; two 1-hour webinars per month; completion of a mentored research project with culmination in a poster presentation at a RDCRN meeting in the Washington, D.C. area; and about 4 hours of projects/reading per month for preparation. Certificates will be awarded to participants completing at least 75% of the course content at or above acceptable levels.

Twenty applicants will be accepted for a “funded” position. This funding will cover $1,000 of travel costs for the program. Applicants can apply for the funded program, while also indicating that they wish to be considered for the unfunded program if not chosen for funding. Applicants are requested to submit the following: their CV; a 1-page description of their proposed rare disease research project; and a letter of commitment from their supervisor regarding the 10% protected-time for this training program, as well as attesting to the applicant’s rare disease research aptitude. A second letter from an outside mentor is encouraged, in order to show community support for the applicant.

For the 2017-2018 session of this Program, the Application submission deadline was August 1, 2017. Information about the 2018-2019 Training Program will be posted here on the LDN home page as soon as it becomes available.

Join the Contact Registry

You (or your child) are invited to participate in the nationwide Contact Registry for lysosomal disease patients. The Rare Diseases Clinical Research Network (RDCRN) offers this patient Contact Registry. This is a method by which patients with lysosomal diseases can register themselves online with the RDCRN in order to be contacted in the future about clinical research opportunities and updates on the progress of the research projects. The contact registry is anonymous and free of charge.

The Lysosomal Disease Network encourages lysosomal disease patients or their families to register. Because of the rarity of lysosomal diseases, the Contact Registry plays an important role in estimating the incidence and prevalence of these conditions, and in keeping interested persons informed about available clinical research for treatment and cure of lysosomal diseases.

NIH-funded
LDN Investigators
2017 Meeting

The Council of Research Experts (CORE) – also known as the NIH-funded Investigators, or Lysosomal Disease Network Investigators – met on Friday, February 17, 2017 in San Diego, California. Dr. Rashmi Gopal-Srivastava’s presentation slides from that meeting can be found here (clicking on this link results in a 7.4 MB download to your computer). Dr. Jeffrey Krischer’s presentation slides from that meeting can be found here (clicking on this link results in a 2.8 MB download to your computer).

4th Conference on
Clinical Research for
Rare Diseases (CCRRD)

On November 3, 2016 the Rare Diseases Clinical Research Network (RDCRN) hosted the 4th Conference on Clinical Research for Rare Diseases (CCRRD) in Washington D.C. The Lysosomal Disease Network’s current fellows Michael Flanagan, PhD; Li Ou, PhD; Reena Kartha, PhD and Kwangchae Yoon, PharmD; and past fellows Zoheb Kazi, MD; Mari Mori, MD; Melani Solomon, MD and Joseph Schneider, PharmD participated in this conference. Goals of the conference included discussing the instruction of new investigators in rare disease research methodology; developing a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.

The following day, the semi-annual RDCRN principal investigators’ meeting, attended by the principal investigators of all of the twenty-two RDCRN research consortia, was held in Washington D.C. Chester B. Whitley, PhD, MD, LDN principal investigator, presented an overview of a few of the scientific achievements of the Lysosomal Disease Network.

NIH-funded
LDN Investigators
2016 Meeting

The Council of Research Experts (CORE) – also known as the NIH-funded Investigators, or Lysosomal Disease Network Investigators – met on Friday, March 4, 2016. Presentation slides from the 2016 meeting can be found here.

Lysosomal Disease Network

Lysosomal diseases are a collection of more than 70 clinical syndromes with incidence rates ranging from 1 in 20,000 (Gaucher disease) to 1 in 300,000 (Wolman disease) live births; taken together these conditions are responsible for a significant amount of disability and disease burden.

Testing New Therapies

The rarity of each lysosomal disease means that no single medical research center has an opportunity to see sufficient numbers of patients with any one disease to effectively describe the full spectrum of each disease or adequately test any new therapies.

Combined and Integrated Efforts

The combined and integrated efforts of the LDN focus on creating a network of centers with expertise in one or more of these diseases in order to solve major challenges in diagnosis, disease management, and therapy. Solutions to these problems will have a direct impact on patients suffering from lysosomal disease and important implications for medical practice.

Lysosomal diseases include:

aspartylglucosaminuria; Batten disease; cholesteryl ester storage disease; cystinosis; Danon disease; Fabry disease; fucosidosis; galactosialidosis types I, II & III; Gaucher disease types I, II & III; GM1 gangliosidosis (infantile, juvenile, adult-onset); Krabbe disease; alpha-mannosidosis types I and II; beta-mannosidosis; metachromatic leukodystrophy; mucolipidosis types II, III, and IV; mucopolysaccharidosis types I, II, III, IV, and VI (Hurler, Hurler–Scheie, and Scheie; Hunter, Sanfilippo, Morquio, and Maroteaux–Lamy syndromes, respectively); multiple sulfatase deficiency; neuronal ceroid lipofuscinosis (infantile, late infantile, juvenile, adult); Niemann–Pick disease; Pompe disease; Sandhoff disease (infantile, juvenile); Schindler disease types I and II; sialidosis types I and II; Tay-Sachs disease (infantile, juvenile and late-onset); Wolman disease (lysosomal acid lipase deficiency).

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