NORD's
Washington Office
 Read about events on Capitol Hill, funding for rare-disease research, and other topics of interest from NORD's office in Washington, DC.
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Research
Pelizaeus-Merzbacher Disease
A study is in progress at Wayne
State University to increase understanding of Pelizaeus-Merzbacher disease and
how it affects nerve cells and their parts. This rare, progressive, central
nervous system disorder is associated with a lack of the fatty covering (known
as the myelin sheath) in nerve cells.
There are several forms of Pelizaeus-Merzbacher disease. Symptoms include impaired
coordination of movement and motor abilities. By studying this disease at the
cellular level and at the clinical level, the researchers hope to gain a better
understanding of how mutations in the proteolipid protein gene (PLP1), located
on the X chromosome, lead to the various symptoms of PMD.
The research team hopes to evaluate at least ten families per year over the
next five years. Participants will be asked to travel to Detroit for a two-day
study visit. Assistance will be provided in making travel arrangements, and
all travel costs will be paid. For additional information about this study,
contact James Garbern, MD, PhD, at (313) 577-1689 or jgarbern@med.wayne.edu
or visit the study Web site.
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Since 1983, working toward the prevention, treatment, and cure of rare
“orphan” diseases.
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Previous Clinical Trials
These studies were listed earlier on this page. Contact the researchers if you would
like to know whether they are still recruiting.
CADASIL
Pelizaeus-Merzbacher Disease
Platelet Disorders
ARVC/ARVD
Immune Thrombocytopenic Purpura
Sturge-Weber Syndrome
Brain Metastases Originating from Breast Cancer
Duplication 12p
Rheumatoid Arthritis/Juvenile Rheumatoic Arthritis, Lupus, Scleroderma or Myositis
Moyamoya Disease
Prader-Willi Syndrome
Larsen Syndrome Registry and Web Site
Primary Liver Cancer
Risk Factors in Autoimmune Disease
Neuroendocrine Unit Studies at MGH
Congenital Lactic Acidosis
Hereditary Angioedema
NINDS Physicians Study Fabry's Disease
Inherited Bone Marrow Failure Disorders
Genzyme Recruiting Patients for Dose Frequency Study
Fabry Disease
Primary Ciliary Dyskinesia
Neurofibromatosis Type I
Primary Lateral Sclerosis
FENIB
Alkaptonuria
Behcet's Disease
Infantile Neuronal Ceroid Lipofuscinosis (INCL)
Turner Syndrome
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