TREATMENT
HORIZON

Lysosomal-Storage Disorders (LSDs):

Over the past years the treatments available for patients with lysosomal storage disorders has rapidly increased. Hematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction, and chaperone therapies are currently available, and gene therapies and other treatments are rapidly advancing. Despite these advances, the efficacy of most of these therapies is limited, as treatments are usually initiated when organ damage has already occurred.


Griscelli Syndrome (GS):

Bone marrow transplantation is the most effective treatment for GS type 2.


Hermansky-Pudlak Syndrome (HPS):

Treatment of HPS patients with excessive bleeding may consist of transfusions of normal blood platelets. Women with excessive menstrual bleeding can be treated with oral contraceptives. Desmopressin acetate can also be administered to patients with acute bleeding and has proven effective for some patients with this symptom.

Patients with HPS types 1, 2 or 4 who develop pulmonary fibrosis may eventually need a lung transplant.


Choroideremia:

Management of choroideremia includes periodic ophthalmologic examination to monitor progression or appearance of cataract, and the use of UV-blocking sunglasses. There are no proven treatments of choroideremia although in recent years there have been momentous leaps made in clinical research and development, as a gene therapy trial is ongoing.