Programs

  • Program 1 [2020]

    COMPASSSION and EDUCATION ... COVID forced a pivot and a deferral of our annual MLD Family ConferenceTM. Continued online, telephone, and in person family visits in their hometowns during. Hosted men's, women's, and couple's virtual gatherings every 4-6 weeks. Meet with families and small family groups where an MLD Family Conference is not possible. These visits bring families in geography together to meet each other - often for the very first time to educate and further connect those families with the MLD Foundation and other families. We share research and clinical trial updates, answer questions, and allocate the bulk of the time to building relationships between the families. (approx 20 families). Direct Quality of Life case management for several families. Direct family financial support through our independently managed MLD Family Compassion Fund.
    Geographies
    Not indicated
    Dates
    Jan 1, 2020 – Dec 31, 2020
    Source
    990
    No causes provided
    No populations provided
    –
    $16.6K

  • Program 2 [2020]

    INFLUENCE RESEARCH & AWARENESS - Regularly attend medical and scientific conferences including the NIH/RDCRN-Lysosomal Disease Network's WORLD meeting, RDCRN/GLIA-LCN meeting, visiting the FDA, NIH, NINDS, World RARE Disease Day events in DC, HHS/NICHD Newborn Screening meetings, organized two RUSP Roundtable meetings (newborn screening policy and technology), continued MLD newborn screening pilot study, defined and sought funding for RANSIP RUSP approval and broad NBS implementation program, started development relationships with two new biotech/pharma companies, terminated a development program with one existing partner, and visited researchers at their home facilities representing the interests of MLD families and other researchers. Supported global clinical trial recruiting and development of MLD standards of care. Working towards standards for clinical research excellence to improve quality of life for patients/families and further lysosomal and leukodystrophy research. EDUCATION ... Visited NIH, FDA, Capitol Hill to educate on issues of importance to MLD affected families, researchers, and industry. World RARE disease day events, FDA rare disease workshops, HHS/ACHDNC (newborn screening) testimony. Focus on the implementation of electronic medical records, orphan disease research, registries, and newborn screening for rare diseases. Host numerous websites to inform, educate, influence, and support MLD families and research.
    Geographies
    Not indicated
    Dates
    Jan 1, 2020 – Dec 31, 2020
    Source
    990
    No causes provided
    No populations provided
    –
    $36.4K

  • Program 3 [2020]

    NEWBORN SCREENING and DIAGNOSTICS ... Early detection and diagnosis is critical for the best outcomes from current and emerging therapies. MLD Foundation continues to drive pilot studies to validate the screen and the NBS diagnostic processes. Established a MLD NBS Expert Advisory Group in Feb 2020 to gather and assess all data justifying the implementation of a MLD NBS, the generation of a RUSP application for the federal ACHDNC HRSA/HHS committee, and to generate flows for the referrals of babies diagnosed with MLD. These materials will be sed ro state by state NBS implementation in the US and abroad. Similar efforts are being organized for diagnostic confirmation at later ages.
    Geographies
    Not indicated
    Dates
    Jan 1, 2020 – Dec 31, 2020
    Source
    990
    No causes provided
    No populations provided
    –
    $28.8K