Official Title
An Expanded Access Program for Risdiplam in Patients With Type 1 or Type 2 Spinal Muscular Atrophy
Brief Summary

This expanded access program (EAP) will provide access to risdiplam for eligible participants with Type 1 or Type 2 spinal muscular atrophy (SMA) before it is commercially available in the United States for the indication of SMA.

Approved for marketing
Muscular Atrophy, Spinal

Drug: Risdiplam

Risdiplam will be administered orally once daily

Eligibility Criteria

Inclusion Criteria:

All Participants:

- Not eligible for treatment with currently approved treatments for SMA, or cannot
continue treatment with currently approved medications as documented by the treating
physician, or in the treating physician's judgment, the participant is at risk of
lack/loss of treatment efficacy of the current therapy.

- The participant does not qualify for and has no access to SMA treatment in the context
of an ongoing clinical trial.

- Adequately recovered from any acute illness at the time of screening, and considered
clinically well enough to participate, in the opinion of the treating physician.

- Participants with retinopathy of prematurity should have evidence of stable disease.

Type 1 SMA Participants:

- Confirmed diagnosis of 5q-autosomal recessive SMA.

Type 2 SMA Participants:

- Confirmed diagnosis of 5q-autosomal recessive SMA.

- Negative blood pregnancy test at screening (all women of childbearing potential,
including those who have had a tubal ligation), and agreement to comply with measures
to prevent pregnancy and restrictions on egg and sperm donation.

- Males with female partners of reproductive potential must agree to use highly
effective contraception during therapy, and for at least 4 months after treatment

Exclusion Criteria:

- Inability to meet program requirements.

- Concomitant or previous participation in any investigational drug or device study
within 90 days prior to screening or 5 half-lives, whichever is longer.

- Administration of other SMN-2 targeting therapy within 120 days of starting risdiplam

- Administration of SMA gene therapy within the last 3 months (12 weeks) of receiving
risdiplam therapy.

- Any serious medical condition, treatment, or abnormality in clinical laboratory tests
that, in the treating physician's judgment, precludes the participant's safe
participation in the program.

- Ascertained or presumptive hypersensitivity (e.g., anaphylactic reaction) to risdiplam
or to the constituents of its formulation.

- Suspicion of illicit drug or alcohol abuse, in the treating physician's judgment.

- Any prior use of an inhibitor or inducer of flavin-containing monooxygenases 1 (FMO1)
or flavin-containing monooxygenases 3 (FMO3) taken within 2 weeks (or within 5 times
the elimination half-life, whichever is longer) prior to dosing.

Eligibility Gender
Eligibility Age
Minimum: 2 Months ~ Maximum: N/A
United States

Arkansas Children's Hospital; Pediatrics
Little Rock, Arkansas, United States

Children's Hospital Los Angeles
Los Angeles, California, United States

Stanford University
Palo Alto, California, United States

University of Colorado in Denver-Anschutz Medical Campus
Aurora, Colorado, United States

Nemours Children's Hospital
Orlando, Florida, United States

Comprehensive NeuroBehavioral Institute
Plantation, Florida, United States

Rare Disease Research, LLC
Atlanta, Georgia, United States

Ann and Robert H. Lurie Children Hospital of Chicago
Chicago, Illinois, United States

Southern Illinois University, School of Medicine
Springfield, Illinois, United States

Indiana Hemophilia & Thrombosis center
Indianapolis, Indiana, United States

University of Iowa
Iowa City, Iowa, United States

University of Kansas Medical Center
Kansas City, Kansas, United States

University of Louisville
Louisville, Kentucky, United States

Massachusetts General Hospital; Neurology
Boston, Massachusetts, United States

Helen DeVos Children's Hospital at Spectrum Health
Grand Rapids, Michigan, United States

University of Mississippi Medical Center; Neurology
Jackson, Michigan, United States

Gillette Spcl Children's Clin; Pediatric Endocrinology
Saint Paul, Minnesota, United States

St. Louis Children Hospital
Saint Louis, Missouri, United States

Goryeb Children's Hospital
Morristown, New Jersey, United States

Northwell Hospital
New Hyde Park, New York, United States

NYU Langone
New York, New York, United States

University of Rochester Medical Center
Rochester, New York, United States

Wake Forest Baptist Medical Center
Winston-Salem, North Carolina, United States

Akron Childrens Hospital
Akron, Ohio, United States

Nationwide Children's Hospital
Columbus, Ohio, United States

University of Virginia Children's Hospital; Developmental
Charlottesville, Virginia, United States

University of Wisconsin American Family; Childrens Hospital
Madison, Wisconsin, United States

Childrens Hospital of Wisconsin
Milwaukee, Wisconsin, United States

Medical College of Wisconsin, Inc.
Milwaukee, Wisconsin, United States

Clinical Trials, Study Director
Hoffmann-La Roche

Genentech, Inc.
NCT Number
MeSH Terms
Muscular Atrophy
Muscular Atrophy, Spinal