Orphan Disease Center -- ADLD Center Grant Program

Funding Agency:
University of Pennsylvania

The ADLD Center, in collaboration with the Orphan Disease Center, will provide a 1-year grant to support research related to Autosomal Dominant Leukodystrophy (ADLD). Up to 2 awards will be granted at $50,000 each.

Adult-onset Autosomal Dominant Leukodystrophy (ADLD) is a rare genetic disorder that develops symptoms in the fourth or fifth decade due to nerve damage that slowly progresses. The onset often includes autonomic conditions such as bowel or bladder dysfunction, male impotence, loss of fine motor skills, and orthostatic hypotension. Later symptoms include difficulties using and controlling legs and arms, ultimately leading to paralysis and problems swallowing, and eventually developing into intellectual impairment. ADLD is a fatal disorder, but it is slowly progressive; patients often survive for several decades.

ADLD can be caused by one of two genetic defects - either a duplication of the gene LMNB1 that encodes for the protein Lamin B1, or an upstream deletion. Lamin B1 is a protein that is present in every cell in the body and plays an essential role in cell structure. Either of the two aforementioned genetic changes results in toxic overexpression of Lamin B1. Although Lamin B1 is present in all cells in the body, overexpression of Lamin B1 mainly causes problems in the central nervous system where it causes demyelination.

 The Orphan Disease Center, in collaboration with the ADLD Center, is seeking grant applications for multidisciplinary teams of scientists that aim to further progress our understanding of the disease, the available therapeutic options, and investigating strategies to establish outcome measurements. The RFA could focus on one, or several, of the following aims to further advance ADLD research and therapeutic approaches:

  1. Identification of short-term biomarkers that can monitor disease activity and treatment response.

  2. Establishment of outcome measures for future clinical trials.

  3. Development of therapeutic approaches in early symptomatic patients.

  4. Supporting pilot clinical trials, preclinical trials, or animal model trials that promote drug repurposing strategies.

  5. Development of a standardized evaluation criteria for clinical projects allowing uniformity of patients as well as the severity and progression of the disease.

  6. Development of cellular models (i.e. oligodendrocytes) for evaluation of therapeutic options to translate for clinical use.

  7. Evaluate pre-clinical patients (MRIs, genetic testing).

Letters of Interest (LOIs) Due: January 9, 2023

Agency Website

Eligibility Requirements

All individuals holding a faculty-level appointment at an academic institution or a senior position at a non-profit institution or foundation are eligible to respond to this RFA.

Amount

$150,000

Funding Type

Grant

Eligibility

Faculty

Category

Medical
Medical - Basic Science
Medical - Clinical Science
Medical - Translational

External Deadline

January 9, 2023