ALLMedicine™ Osteopetrosis Center

Mar 19th, 2023 - Discovery in 1904 of the disorder initially called "marble bones", then in 1926 more appropriately referred to as "osteopetrosis", is attributed to Heinrich E. Albers-Schönberg (1865-1921), the first radiologist. He used the new technique of Röntg...

Mar 13th, 2023 - Background The history of stem cell transplant goes back as early as 1939, when the first documented clinical transplant was performed. In 1968, the first successful allogenic stem cell transplant was made possible followed by series of achievemen...

Mar 13th, 2023 - Background The history of stem cell transplant goes back as early as 1939, when the first documented clinical transplant was performed. In 1968, the first successful allogenic stem cell transplant was made possible followed by series of achievemen...

Mar 13th, 2023 - The history of stem cell transplant goes back as early as 1939, when the first documented clinical transplant was performed. In 1968, the first successful allogenic stem cell transplant was made possible followed by series of achievements in 1970s...

Mar 3rd, 2023 - Autosomal dominant osteopetrosis (ADO) is the most common form of osteopetrosis. ADO is characterized by generalized osteosclerosis along with characteristic radiographic features such as a "bone-in-bone" appearance of long bones and sclerosis of ...

Nov 3rd, 2022 - This single-institution, phase II study is designed to test the ability to achieve donor hematopoietic engraftment while maintaining low rates of transplant-related mortality (TRM) using busulfan- and fludarabine-based conditioning regimens with b...

Jul 13th, 2022 - This is a non-randomized Phase 1 study to evaluate the preliminary safety and efficacy of hematopoietic gene therapy consisting of autologous CD34+ enriched hematopoietic cells transduced with the lentiviral vector (LV) carrying the human TCIRG1 t...

Feb 26th, 2020 - Friedreich ataxia (FRDA) is a devastating neurodegenerative disease that affects children and young adults. Patients become progressively unable to coordinate movements and walking until severe disability ensues. Most patients develop dilated card...

Jul 31st, 2019 - This revised transplant protocol will test the following: 1) the ability to achieve engraftment with the reduced intensity protocol and a second infusion of stem cells on day 42, 2) the mortality associated with transplant by day 100, 3) patient o...

Jul 2nd, 2019 - Osteopetrosis is a rare inherited metabolic bone disease characterized by impaired osteoclast function resulting in defective bone resorption and generalized high bone mass and mineral density (BMD). In patients with severe disease, this high bone...

Apr 2nd, 2021 - Transcript: Sergio A. Giralt, MD: There is another study from Jeffrey Laurence, MD, where he was looking at the potential beneficial effects of defibrotide on markers of endothelial damage. And he did show that defibrotide could protect endoth...

May 2nd, 2017 - UPDATED May 4, 2017 // The world's top 10 most expensive drugs are all orphan drugs for rare and ultrarare diseases, according to a new analysis. Leading that pack at number 1 is glycerol phenylbutyrate (Ravicti, Horizon Pharma), an orphan drug ap...

May 2nd, 2017 - UPDATED May 4, 2017 // The world's top 10 most expensive drugs are all orphan drugs for rare and ultrarare diseases, according to a new analysis. Leading that pack at number 1 is glycerol phenylbutyrate (Ravicti, Horizon Pharma), an orphan drug ap...

Jan 14th, 2016 - On initial presentation, exclusion of other diseases that result in a similar "bright bone" appearance on radiography is important. The causes of diffuse osteosclerosis include hypervitaminosis D, hypoparathyroidism, myelofibrosis, Paget disease, ...

Jul 18th, 2015 - Long-term survival after hematopoietic stem cell transplantation for infantile osteopetrosis was highest when grafts were taken from human leukocyte antigen (HLA)-matched siblings, according to the largest cohort of patients with the disease that.