Clinical Trial

Disease: Hemophilia B & Mucopolysaccharidosis, MPS, (NCT04628871)

Disease info:

Haemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. Hemophilia B is caused by mutations in the F9 gene which encodes coagulation factor IX.

Hemophilia primarily affects males, but a milder, symptomatic form of hemophilia B in female carriers has also been described.

Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body.

Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme.

The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder.

This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.

Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia).

There are two types of MPS II, called the severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression.The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.


Severe MPS I occurs in approximately 1 in 100,000 newborns.  Prevalence is estimated at around 1 in 30,000 males.

Haemophilia is estimated at around 1 in 30,000 males. Severe MPS I occurs in approximately 1 in 100,000 newborns, while attenuated MPS I occurs in about 1 in 500,000 newborns. MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males.
Official title:
Long-Term Follow-up of Subjects Who Were Treated With SB-318, SB-913, or SB-FIX, for Targeted Genome Editing Into the Albumin Gene in the Liver

United States, California

UCSF Benioff Children's Hospital Oakland, Oakland, California, United States, 94609


United States, Illinois

Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, United States, 60611


United States, New York

New York University Grossman School of Medicine, New York, New York, United States, 10016


United States, North Carolina

University of North Carolina, Chapel Hill, North Carolina, United States, 27514


United States, Ohio

Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States, 45229

Study start:
Nov. 3, 2020
13 participants
Gene editing method:
Zinc Finger Nuclease (ZFN)
Type of edit:
Gene correction
IDUA (candidate SB-318) IDS (candidate SB-913) F9 gene (candidate SB-FIX)
Delivery method:
Adeno-associated virus (AAV) vector - In-vivo
Long term follow up study of clinical trials NCT02702115, NCT03041324, and NCT02695160.
IND Enabling Pre-clinical
Phase I Safety
Phase II Safety and Dosing
Phase III Safety and Efficacy

Status: Active not recruiting


Long-term follow-up of subjects who received SB-318, SB-913, or SB-FIX in a previous trial and completed at least 52 weeks post-infusion follow-up in their primary protocol. Enrolled subjects will be followed for a total of up to 10 years following exposure to SB-318, SB-913, or SB-FIX.

Last updated: Apr. 20, 2024
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