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 discontinuation.

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 therapy.

- 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
United States

Arkansas Children's Hospital; Pediatrics
Little Rock, Arkansas, 72202

Children's Hospital Los Angeles
Los Angeles, California, 90010

Stanford University
Palo Alto, California, 94304

University of Colorado in Denver-Anschutz Medical Campus
Aurora, Colorado, 80045

Nemours Children's Hospital
Orlando, Florida, 32827

Comprehensive NeuroBehavioral Institute
Plantation, Florida, 33317

Rare Disease Research, LLC
Atlanta, Georgia, 30318

Ann and Robert H. Lurie Children Hospital of Chicago
Chicago, Illinois, 60611

Southern Illinois University, School of Medicine
Springfield, Illinois, 62702

Indiana Hemophilia & Thrombosis center
Indianapolis, Indiana, 46260

University of Iowa
Iowa City, Iowa, 52242

University of Kansas Medical Center
Kansas City, Kansas, 66160

University of Louisville
Louisville, Kentucky, 40202

Massachusetts General Hospital; Neurology
Boston, Massachusetts, 02114

Helen DeVos Children's Hospital at Spectrum Health
Grand Rapids, Michigan, 49503

University of Mississippi Medical Center; Neurology
Jackson, Michigan, 39216

Gillette Spcl Children's Clin; Pediatric Endocrinology
Saint Paul, Minnesota, 55101

St. Louis Children Hospital
Saint Louis, Missouri, 63110

Goryeb Children's Hospital
Morristown, New Jersey, 07960

Northwell Hospital
New Hyde Park, New York, 11042

NYU Langone
New York, New York, 10003

University of Rochester Medical Center
Rochester, New York, 14642

Wake Forest Baptist Medical Center
Winston-Salem, North Carolina, 27157

Akron Childrens Hospital
Akron, Ohio, 44308

Nationwide Children's Hospital
Columbus, Ohio, 43205

University of Virginia Children's Hospital; Developmental
Charlottesville, Virginia, 22903

University of Wisconsin American Family; Childrens Hospital
Madison, Wisconsin, 53792

Childrens Hospital of Wisconsin
Milwaukee, Wisconsin, 53201

Medical College of Wisconsin, Inc.
Milwaukee, Wisconsin, 53226-3596

Clinical Trials
Study Director
Hoffmann-La Roche

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