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Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children. more...

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Clinical Features

This syndrome shows a wide range of abnormalities and symptoms. The main characteristics of the syndrome are exocrine pancreatic dysfunction, haematologic abnormalities and growth retardation. Neutropenia may be intermittent or persistent and is the most common haematological finding. Low neutrophil counts leave patients at risk of developing severe recurrent infections that may be life-threatening. Anemia (low red blood cell counts) and thrombocytopenia (low platelet counts) may also occur. Bone marrow is typically hypocellular, with maturation arrest in the myeloid lineages that give rise to neutrophils, macrophages, platelets and red blood cells. Patients may also develop progressive marrow failure or transform to acute myelogenous leukemia. Pancreatic exocrine insufficiency arises due to a lack of acinar cells that produce digestive enzymes. These are extensively depleted and replaced by fat. A lack of pancreatic digestive enzymes leaves patients unable to digest and absorb fat. However, pancreatic status may improve with age in some patients. More than 50% of patients are below the third percentile for height, and short stature appears to be unrelated to nutritional status. Other skeletal abnormalities include metaphyseal dysostosis (45% of patients), thoracic dystrophy (rib cage abnormalities in 46% of patients), and costochondral thickening (shortened ribs with flared ends in 32% of patients). Skeletal problems are one of the most variable components of SDS, with 50% affected siblings from the same family discordant for clinical presentation or type of abnormality. Despite this, a careful review of radiographs from 15 patients indicated that all of them had at least one skeletal anomaly, though many were sub-clinical.


Initially, the clinical presentation of SDS may appear similar to cystic fibrosis. However, CF can be excluded with a normal sweat chloride test result. The variation, intermittent nature, and potential for long-term improvement of some clinical features make this syndrome difficult to diagnose. SDS may present with either malabsorption, or hematological problems. Rarely, SDS may present with skeletal defects, including severe rib cage abnormalities that lead to difficulty in breathing. Diagnosis is generally based on evidence of exocrine pancreatic dysfunction and neutropenia. Skeletal abnormalities and short stature are characteristics that can be used to support the diagnosis. The gene responsible for the disease has been identified and genetic testing is now available. Though useful in diagnostics, a genetic test does not surmount the need for careful clinical assessment and monitoring of all patients.


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Altus Completes Study on Lead Product for Malabsorption
From Business Wire, 5/14/03

Business Editors/Health/Medical Writers


CAMBRIDGE, Mass.--(BUSINESS WIRE)--May 14, 2003

Altus Biologics Inc., a developer of novel orally delivered proteins, today announced results obtained from a Phase 1 trial of TheraCLEC(TM), an orally delivered enzyme replacement therapy. TheraCLEC is currently being investigated for the treatment of malabsorption as a result of pancreatic insufficiency. The primary objectives of the study were to assess the safety and tolerability of repeated escalating doses of TheraCLEC in healthy volunteers. Analysis of the data showed a favorable safety and tolerability profile across a wide range of doses.

"We are very encouraged by the results of this study," said Christopher Stevens, M.D., Director, Medical Affairs and Clinical Research at Altus(R). Dr. Stevens noted, "TheraCLEC in repeated doses was well tolerated and demonstrated an overall favorable safety and tolerability profile. We believe this orally delivered enzyme will provide a major breakthrough for the treatment of pancreatic insufficiency and will make a real difference in the lives of patients especially given the limitations of current treatments."

Robert Gallotto, Vice President of Commercial Development, Branded Products for Altus stated, "Altus has reached a major milestone in the development of orally-delivered protein therapies with the completion of a well-designed and controlled safety study of its enzyme replacement therapy for pancreatic insufficiency." Mr. Gallotto added, "Based on these results, we are aggressively advancing our clinical development program with the initiation of a multi-center, dose ranging clinical trial to assess the safety and clinical activity of TheraCLEC in patients with cystic fibrosis."

About TheraCLEC(TM)

TheraCLEC is a novel therapy intended to treat malabsorption as a result of pancreatic insufficiency, a condition that affects most cystic fibrosis (CF) patients, as well as many patients with chronic pancreatitis, pancreatic cancer, Shwachman-Diamond syndrome and other diseases. In each of these diseases, a deficiency of pancreatic enzymes causes poor absorption of essential nutrients, which often leads to malnutrition, impaired growth and poor survival. TheraCLEC is intended to replace missing digestive enzymes to promote and maintain proper digestion and growth in affected patients. A clinical study for TheraCLEC is underway at CF care centers throughout the United States.

TheraCLEC is the first in a portfolio of products under development applying Altus' technology and expertise for orally delivered protein therapies. Protein therapeutics delivered as oral lumenal therapies offer distinct advantages over systemically delivered proteins because they are directly and more readily delivered to the site of action. This may lead to a significant therapeutic effect, and an improved safety profile. Altus' focus is to develop and maximize the potential of orally delivered proteins to treat gastrointestinal and metabolic diseases. TheraCLEC is being developed in collaboration with the Cystic Fibrosis Foundation, Bethesda, MD and in Europe with Dr. Falk Pharma, Freiburg, Germany. Dr. Falk Pharma has licensed the commercial rights to TheraCLEC for Europe. Altus retains exclusive commercial rights in all other territories.

About Cystic Fibrosis

One of the conditions in which enzyme replacement is used as a life-saving treatment is cystic fibrosis. Cystic fibrosis is a life-threatening disease affecting approximately 30,000 patients in the United States, 35,000 patients in Europe and a significant number of additional patients globally. CF is an inherited disorder in which mucus secretions become abnormally thick, hampering the normal functioning of the respiratory, digestive, and reproductive systems. As a result, malnutrition can occur and normal growth may be hindered. Today in the US, nearly 90 percent of people with CF are afflicted with pancreatic insufficiency and have an average life expectancy in the early 30's, while CF patients without pancreatic insufficiency have a life expectancy of about 50 years. One in 31 Americans-more than 10 million people-is an unknowing carrier of the defective CF gene.

About Altus

Altus Biologics Inc. is a privately held life sciences company that has developed a unique, powerful and proprietary protein crystallization technology, known as Crystalomics(TM), to enable the rapid commercialization of high-value protein-based products. Altus focuses on the commercialization and development of targeted therapies for the treatment of gastrointestinal and metabolic diseases. Altus' technology allows its products to act chiefly by creating a highly stable protein therapeutic that allows for oral delivery of the protein to the gastrointestinal tract that provides a localized or topical effect within the gastrointestinal (GI) lumen. Through its branded products portfolio, the company's vision is to be the worldwide leader in the rapid and efficient development of valuable orally delivered proteins. The Company has a series of products in various stages of research and development all leveraging the Crystalomics technology. Crystalomics is also proving to be an innovative drug delivery technology that can transform proteins into highly concentrated, stable, and pure crystalline products that offer significant advantages in the overall route of administration, safety, and storage of protein therapeutics, as well as in the manufacture of small-molecule drugs. Altus has numerous development partners and is constantly evaluating the opportunity to expand its product development efforts through partnering opportunities. Altus(R) and Crystalomics(TM) are trademarks of Altus Biologics Inc.

For more information on Altus, visit or for more information about Altus' clinical trials, patients and physicians can contact the Altus Medical Product Information Department at 617-299-2900.

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COPYRIGHT 2003 Gale Group

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