About 735 results

ALLMedicine™ Osteopetrosis Center

Research & Reviews  282 results

Osteosclerotic metaphyseal dysplasia, dysosteosclerosis or osteomyelitis? Paediatric ca...
BMJ Case Reports; Chundoo S, McGoldrick DM et. al.

May 14th, 2022 - Osteosclerotic metaphyseal dysplasia (OMD) is an extremely rare form of osteopetrosis, which bears significant clinical similarities to dysosteosclerosis (DSS). We aim to present a rare case of OMD with mandibular swelling and osteomyelitis infect...

Alterations in Hematopoietic and Mesenchymal Stromal Cell Components of the Osteopetrot...
Stem Cells Translational Medicine; Zeytin IC, Alkan B et. al.

Apr 1st, 2022 - Osteopetrosis is a rare inherited disease characterized by impaired osteoclast activity causing defective bone resorption and bone marrow aplasia. It is fatal in early childhood unless hematopoietic stem cell transplantation is performed. But, the...

Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recess...
Bone Dudiki T, Nascimento DW et. al.

Mar 29th, 2022 - The cellular and molecular mechanisms of bone development and homeostasis are clinically important, but not fully understood. Mutations in integrins and Kindlin3 in humans known as Leukocyte adhesion deficiencies (LAD) cause a wide spectrum of com...

Hearing Loss in Malignant Infantile Osteopetrosis: A Case-Based Review.
The Journal of International Advanced Otology; De Cuyper E, De Cuyper C et. al.

Feb 19th, 2022 - Osteopetrosis, or marble bone disease, is a rare genetic disease of bone resorption. It includes a clinically heterogeneous group of conditions that are characterized by increased bone density on radiographs due to a defect in osteoclasts. A most ...

The Treatment of Subtrochanteric Fracture with Reversed Contralateral Distal Femoral Lo...
Orthopaedic Surgery; Tu Y, Liu FX et. al.

Dec 17th, 2021 - To describe the application of reversed contralateral distal femoral locking compression plate (DF-LCP) inserted through a progressive and intermittent drilling procedure in the treatment of osteopetrotic subtrochanteric fracture (OSF). Three pati...

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Drugs  2 results see all →

Clinicaltrials.gov  5 results

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

Nov 5th, 2021 - 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...

A Trial to Evaluate Safety and Efficacy of RP-L401-0120 in Subjects With Infantile Malignant Osteopetrosis

Aug 24th, 2021 - 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...

Stem Cell Transplantation for Children Affected With Osteopetrosis

May 30th, 2017 - The primary objective of this trial will be answered strictly by those patients enrolled who receive a haploidentical stem cell donor graft. Patients with a matched sibling donor will be offered participation in this clinical trial and will receiv...

Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis

Mar 25th, 2015 - PROTOCOL OUTLINE: This is a randomized, placebo controlled, open label study. Patients are randomized to one of two arms (interferon gamma in combination with calcitriol or calcitriol alone). Arm I: Patients receive calcitriol once daily. Interfer...

Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis

Jun 4th, 2012 - The purpose of this study is to evaluate the efficacy and side effects of donor hematopoietic cells using chemotherapy regimen without total-body irradiation in children undergoing a hematopoietic stem cell transplant for Malignant infantile osteo...

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News  5 results

Rare Disease Treatments Make Up Top 10 Most Costly Drugs

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...

Rare Disease Treatments Make Up Top 10 Most Costly Drugs

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...

A 49-Year-Old Man With Pain at the Site of a Previous Fracture

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, ...

HLA-matched sibling transplants provide best outcomes in infantile osteopetrosis
Lucas Franki

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.

Pyle-type Metaphyseal Dysplasia

Diagnosis Pyle-type metaphyseal dysplasia (or Pyle's disease) Differential diagnosis: Chronic anemia (e.g. Sickle-cell disease), osteopetrosis, Gaucher disease and Niemann-Pick disease.

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